Outimaija Mäkitie

Publications
CV
Public outreach and news

Articles

Article: HORMONE RESEARCH IN PAEDIATRICS. 2024;:1-15
A novel PHIP variant in a family with severe early-onset obesity.
Loid P; Vuorela N; Aaltonen K; Kuittinen J; Mäkitie O
Article: SCIENCE. 2024;385(6715):eadd8947
Germline mutations in a G protein identify signaling cross-talk in T cells
Ham H; Jing H; Lamborn IT; Kober MM; Koval A; Berchiche YA; Anderson DE; Druey KM; Mandl JN; Isidor B; Ferreira CR; Freeman AF; Ganesan S; Karsak M; Mustillo PJ; Teo J; Zolkipli-Cunningham Z; Chatron N; Lecoquierre F; Oler AJ; Schmid JP; Kuhns DB; Xu X; Hauck F; Al-Herz W; Wagner M; Terhal PA; Muurinen M; Barlogis V; Cruz P; Danielson J; Stewart H; Loid P; Rading S; Keren B; Pfundt R; Zarember KA; Vill K; Potocki L; Olivier KN; Lesca G; Faivre L; Wong M; Puel A; Chou J; Tusseau M; Moutsopoulos NM; Matthews HF; Simons C; Taft RJ; Soldatos A; Masle-Farquhar E; Pittaluga S; Brink R; Fink DL; Kong HH; Kabat J; Kim WS; Bierhals T; Meguro K; Hsu AP; Gu J; Stoddard J; Banos-Pinero B; Slack M; Trivellin G; Mazel B; Soomann M; Li S; Watts VJ; Stratakis CA; Rodriguez-Quevedo MF; Bruel A-L; Lipsanen-Nyman M; Saultier P; Jain R; Lehalle D; Torres D; Sullivan KE; Barbarot S; Neu A; Duffourd Y; Similuk M; McWalter K; Blanc P; Bezieau S; Jin T; Geha RS; Casanova J-L; Makitie OM; Kubisch C; Edery P; Christodoulou J; Germain RN; Goodnow CC; Sakmar TP; Billadeau DD; Kury S; Katanaev VL; Zhang Y; Lenardo MJ; Su HC
Article: EUROPEAN JOURNAL OF IMMUNOLOGY. 2024;:e2451189
Reduction in mucosal-associated invariant T cells (MAIT) in APECED patients is associated with elevated serum IFN-γ concentration
Hetemaki I; Sarkkinen J; Wong HH; Heikkila N; Laakso S; Miettinen S; Mayranpaa MI; Makitie O; Arstila TP; Kekalainen E
Article: HORMONE RESEARCH IN PAEDIATRICS. 2024;:1-11
A de novo PRPF8 Pathogenic Variant in Transient Severe Hypophosphatemia with Delayed Puberty and Growth Failure.
Koljonen L; Salonen P; Rusanen S; Mäyränpää MK; Pekkinen M; Mäkitie O
Article: JOURNAL OF CLINICAL IMMUNOLOGY. 2024;44(6):140
Neurological Diseases and Prevalence of Antineuronal Antibodies in Patients with Autoimmune Polyendocrine Syndrome Type 1 - A National Cohort Study.
Laakso SM; Häkkinen A; Mäkitie O; Laakso S
Article: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2024;153(6):1736-1742
Increased type 7 inflammation in gynecologic cervicovaginal samples in patients with APS-7
Hetemaki I; Saari V; Yohannes DA; Holopainen E; Holster T; Jokiranta S; Mayranpaa MI; Virtanen S; Makitie O; Kekalainen E; Laakso S
Article: TRENDS IN ENDOCRINOLOGY AND METABOLISM. 2024;35(6):478-489
A perspective on muscle phenotyping in musculoskeletal research.
Foessl I; Ackert-Bicknell CL; Kague E; Laskou F; Jakob F; Karasik D; Obermayer-Pietsch B; Co-authors; Alonso N; Bjørnerem Å; Brandi ML; Busse B; Calado Â; Cebi AH; Christou M; Curran KM; Hald JD; Semeraro MD; Douni E; Duncan EL; Duran I; Formosa MM; Gabet Y; Ghatan S; Gkitakou A; Hassler EM; Högler W; Heino TJ; Hendrickx G; Khashayar P; Kiel DP; Koromani F; Langdahl B; Lopes P; Mäkitie O; Maurizi A; Medina-Gomez C; Ntzani E; Ohlsson C; Prijatelj V; Rabionet R; Reppe S; Rivadeneira F; Roshchupkin G; Sharma N; Søe K; Styrkarsdottir U; Szulc P; Teti A; Tobias J; Valjevac A; van de Peppel J; van der Eerden B; van Rietbergen B; Zekic T; Zillikens MC
Article: ACTA PAEDIATRICA, INTERNATIONAL JOURNAL OF PAEDIATRICS. 2024;113(6):1446-1452
Bisphosphonate treatment for skeletal complications in paediatric cancer-Experience from a single tertiary centre
Utriainen P; Stenberg JEE; Vettenranta KK; Makitie OM
Article: CELL REPORTS MEDICINE. 2024;5(5):101529
Genetic variants for head size share genes and pathways with cancer.
Knol MJ; Poot RA; Evans TE; Satizabal CL; Mishra A; Sargurupremraj M; van der Auwera S; Duperron M-G; Jian X; Hostettler IC; van Dam-Nolen DHK; Lamballais S; Pawlak MA; Lewis CE; Carrion-Castillo A; van Erp TGM; Reinbold CS; Shin J; Scholz M; Håberg AK; Kämpe A; Li GHY; Avinun R; Atkins JR; Hsu F-C; Amod AR; Lam M; Tsuchida A; Teunissen MWA; Aygün N; Patel Y; Liang D; Beiser AS; Beyer F; Bis JC; Bos D; Bryan RN; Bülow R; Caspers S; Catheline G; Cecil CAM; Dalvie S; Dartigues J-F; DeCarli C; Enlund-Cerullo M; Ford JM; Franke B; Freedman BI; Friedrich N; Green MJ; Haworth S; Helmer C; Hoffmann P; Homuth G; Ikram MK; Jack CR; Jahanshad N; Jockwitz C; Kamatani Y; Knodt AR; Li S; Lim K; Longstreth WT; Macciardi F; Cohorts for Heart and Aging Research in Genomic Ep; Enhancing NeuroImaging Genetics through Meta-Analy; Mäkitie O; Mazoyer B; Medland SE; Miyamoto S; Moebus S; Mosley TH; Muetzel R; Mühleisen TW; Nagata M; Nakahara S; Palmer ND; Pausova Z; Preda A; Quidé Y; Reay WR; Roshchupkin GV; Schmidt R; Schreiner PJ; Setoh K; Shapland CY; Sidney S; St Pourcain B; Stein JL; Tabara Y; Teumer A; Uhlmann A; van der Lugt A; Vernooij MW; Werring DJ; Windham BG; Witte AV; Wittfeld K; Yang Q; Yoshida K; Brunner HG; Le Grand Q; Sim K; Stein DJ; Bowden DW; Cairns MJ; Hariri AR; Cheung C-L; Andersson S; Villringer A; Paus T; Cichon S; Calhoun VD; Crivello F; Launer LJ; White T; Koudstaal PJ; Houlden H; Fornage M; Matsuda F; Grabe HJ; Ikram MA; Debette S; Thompson PM; Seshadri S; Adams HHH
Article: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2024;153(5):1445-1455
Dysregulated germinal center reaction with expanded T follicular helper cells in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy lymph nodes
Hetemaki I; Sarkkinen J; Heikkila N; Drechsel K; Mayranpaa MI; Farkkila A; Laakso S; Makitie O; Arstila TP; Kekalainen E
Article: PEDIATRIC RESEARCH. 2024;95(6):1578-1586
Low-grade inflammation from prenatal period to age 6-8 years in a Vitamin D trial
Hauta-alus HH; Rosendahl J; Holmlund-Suila EM; Valkama SM; Enlund-Cerullo M; Nurhonen M; Kajantie E; Makitie O; Andersson S
Article: ORPHANET JOURNAL OF RARE DISEASES. 2024;19(1):169
Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients
Arponen H; Vakkilainen S; Tomnikov N; Kallonen T; Silling S; Maekitie O; Rautava J
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2024;:dgae209
Progressive Impairment of Prepubertal Growth in Children With APECED
Saari V; Alanko V; Holopainen E; Makitie O; Laakso S
Article: JBMR PLUS. 2024;8(4):ziae017
Demographic and disease-related factors impact bone turnover and vitamin D in children with hemato-oncological diseases
Jackmann N; Gustafsson J; Utriainen P; Magnusson P; Harila A; Atanasova D; Rinaldo C; Frisk P; Makitie O
Article: CALCIFIED TISSUE INTERNATIONAL. 2024;114(2):157-170
PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic Features in Five New Families
Costa A; Martins A; Machado C; Lundberg E; Nilsson O; Wang F; Costantini A; Tournis S; Hoeppner J; Grasemann C; Maekitie O
Article: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY: GLOBAL. 2024;3(1):100190
Shorter birth length and decreased T-cell production and function predict severe infections in children with non-severe combined immunodeficiency cartilage-hair hypoplasia.
Pello E; Kainulainen L; Vakkilainen M; Klemetti P; Taskinen M; Mäkitie O; Vakkilainen S
Article: THERAPEUTIC ADVANCES IN CHRONIC DISEASE. 2024;15:20406223241247643
Real-world non-interventional post-authorization safety study of long-term use of burosumab in children and adolescents with X-linked hypophosphatemia: first interim analysis
M. Boot A; Ariceta G; Beck-Nielsen SS; Brandi ML; Briot K; Collantes CDL; Giannini S; Haffner D; Keen R; Levtchenko E; Mughal MZ; Makitie O; Nilsson O; Schnabel D; Tripto-Shkolnik L; Zillikens MC; Liu J; Tudor A; Emma F
Article: NATURE GENETICS. 2023;55(11):1820-1830
An atlas of genetic determinants of forearm fracture
Nethander M; Moverare-Skrtic S; Kampe A; Coward E; Reimann E; Grahnemo L; Borbely E; Helyes Z; Funck-Brentano T; Cohen-Solal M; Tuukkanen J; Koskela A; Wu J; Li L; Lu T; Gabrielsen ME; Magi R; Hoff M; Lerner UH; Henning P; Ullum H; Erikstrup C; Brunak S; Langhammer A; Tuomi T; Oddsson A; Stefansson K; Pettersson-Kymmer U; Ostrowski SR; Pedersen OBV; Styrkarsdottir U; Makitie O; Hveem K; Richards JB; Ohlsson C
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2023;108(11):2879-2885
Epidemiology and Causes of Primary Adrenal Insufficiency in Children: A Population-Based Study
Borchers J; Pukkala E; Makitie O; Laakso S
Article: ORPHANET JOURNAL OF RARE DISEASES. 2023;18(1):304
The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data
Ariceta G; Beck-Nielsen SS; Boot AM; Brandi ML; Briot K; Collantes CDL; Emma F; Giannini S; Haffner D; Keen R; Levtchenko E; Makitie O; Mughal MZ; Nilsson O; Schnabel D; Tripto-Shkolnik L; Liu J; Williams A; Wood S; Zillikens MC
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2023;108(10):e1082-e1091
Alkaline Phosphatase and Hyperphosphatasemia in Vitamin D Trial in Healthy Infants and Toddlers
Pontan F; Hauta-alus H; Valkama S; Rosendahl J; Enlund-Cerullo M; Andersson S; Makitie O; Holmlund-Suila E
Article: BMC MUSCULOSKELETAL DISORDERS. 2023;24(1):735
Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy
Ishaq T; Loid P; Ishaq HA; Seo GH; Makitie O; Naz S
Article: ORPHANET JOURNAL OF RARE DISEASES. 2023;18(1):147
Oral findings in patients with cartilage-hair hypoplasia-cross-sectional observational study
Arponen H; Vakkilainen S; Rautava J; Maekitie O
Article: CALCIFIED TISSUE INTERNATIONAL. 2023;112(6):675-682
Bone Tissue Evaluation Indicates Abnormal Mineralization in Patients with Autoimmune Polyendocrine Syndrome Type I: Report on Three Cases
Laakso S; Tong X; Blouin S; Keplinger P; Valimaki V-V; Kroger H; Makitie O; Hartmann MA
Article: JAMA NETWORK OPEN. 2023;6(5):e2314319
Effect of Vitamin D₃ Supplementation in the First 2 Years of Life on Psychiatric Symptoms at Ages 6 to 8 Years: A Randomized Clinical Trial
Sandboge S; Raikkonen K; Lahti-Pulkkinen M; Hauta-alus H; Holmlund-Suila E; Girchenko P; Kajantie E; Makitie O; Andersson S; Heinonen K
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2023;191(5):1164-1209
Nosology of genetic skeletal disorders: 2023 revision
Unger S; Ferreira CR; Mortier GR; Ali H; Bertola DR; Calder A; Cohn DH; Cormier-Daire V; Girisha KM; Hall C; Krakow D; Makitie O; Mundlos S; Nishimura G; Robertson SP; Savarirayan R; Sillence D; Simon M; Sutton VR; Warman ML; Superti-Furga A
Article: GENES. 2023;14(4):869
Identification of GLI1 and KIAA0825 Variants in Two Families with Postaxial Polydactyly
Ahmad S; Ali MZ; Muzammal M; Khan AU; Ikram M; Muurinen M; Hussain S; Loid P; Khan MA; Makitie O
Article: EUROPEAN JOURNAL OF ENDOCRINOLOGY (EJE). 2023;188(4):K17-K23
Pubertal development and hypogonadism in males with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy: a retrospective study
Traskila E; Holopainen E; Mayranpaa MI; Toppari J; Makitie O; Laakso S
Article: EUROPEAN CHILD AND ADOLESCENT PSYCHIATRY. 2023;32(4):601-609
Prenatal maternal and cord blood vitamin D concentrations and negative affectivity in infancy
Sammallahti S; Holmlund-Suila E; Zou R; Valkama S; Rosendahl J; Enlund-Cerullo M; Hauta-Alus H; Lahti-Pulkkinen M; El Marroun H; Tiemeier H; Makitie O; Andersson S; Raikkonen K; Heinonen K
Journal article: NATURE GENETICS. 2023;55(11):1820
An atlas of genetic determinants of forearm fracture
Nethander M; Moverare-Skrtic S; Kampe A; Coward E; Reimann E; Grahnemo L; Borbely E; Helyes Z; Funck-Brentano T; Cohen-Solal M; Tuukkanen J; Koskela A; Wu J; Li L; Lu T; Gabrielsen ME; Magi R; Hoff M; Lerner UH; Henning P; Ullum H; Erikstrup C; Brunak S; Langhammer A; Tuomi T; Oddsson A; Stefansson K; Pettersson-Kymmer U; Ostrowski SR; Pedersen OBV; Styrkarsdottir U; Makitie O; Hveem K; Richards JB; Ohlsson C
Article: FRONTIERS IN ORAL HEALTH. 2023;4:1087761
Dental health of patients with X-linked hypophosphatemia: A controlled study
Larsson A; Regnstrand T; Skott P; Makitie O; Bjornsdottir S; Garming-Legert K
Article: HORMONE RESEARCH IN PAEDIATRICS. 2023;96(4):385-394
Effects of a 2-year early childhood vitamin D3 intervention on tooth enamel and oral health at age 6-7 years
Arponen H; Waltimo-Siren J; Hauta-Alus HH; Tuhkiainen M; Sorsa T; Tervahartiala T; Andersson S; Makitie O; Holmlund-Suila E
Article: FRONTIERS IN GENETICS. 2023;14:1192368
Variation in the fibroblast growth factor 23 (FGF23) gene associates with serum FGF23 and bone strength in infants
Enlund-Cerullo M; Holmlund-Suila E; Valkama S; Hauta-alus H; Rosendahl J; Andersson S; Pekkinen M; Makitie O
Article: FRONTIERS IN ENDOCRINOLOGY. 2023;14:1142310
A novel link between chronic inflammation and humanin regulation in children
Zhao Y; Makitie O; Laakso S; Fedosova V; Savendahl L; Zaman F
Article: PRENATAL DIAGNOSIS. 2022;42(12):1525-1537
Genetic spectrum of prenatally diagnosed skeletal dysplasias in a Finnish patient cohort
Rajala K; Kasanen E; Toiviainen-Salo S; Valta H; Makitie O; Stefanovic V; Tanner L
Article: ELIFE. 2022;11:e79278
Pathogenic variants of sphingomyelin synthase SMS2 disrupt lipid landscapes in the secretory pathway
Sokoya T; Parolek J; Foged MM; Danylchuk DI; Bozan M; Sarkar B; Hilderink A; Philippi M; Botto LD; Terhal PA; Makitie O; Piehler J; Kim Y; Burd CG; Klymchenko AS; Maeda K; Holthuis JCM
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2022;198(6):1023-1031
The human cathelicidin hCAP-18 in serum of children with haemato-oncological diseases
Jackmann N; Englund S; Frisk P; Makitie O; Utriainen P; Mortberg A; Henriques-Normark B; Putsep K; Harila-Saari A
Article: PAEDIATRIC AND PERINATAL EPIDEMIOLOGY. 2022;36(5):665-672
Bone mineral density in very low birthweight adults-A sibling study
Sandboge S; Kuula J; Bjorkqvist J; Hovi P; Makitie O; Kajantie E
Article: BMC MUSCULOSKELETAL DISORDERS. 2022;23(1):818
Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds
Kausar M; Ul Ain N; Hayat F; Fatima H; Azim S; Ullah H; Mushtaq M; Khalid S; Hussain S; Naz S; Janjua J; Bin Amjad S; Baig RM; Makitie O; Qamar R; Ikegawa S; Gen N; Khor CC; Foo JN; Siddiqi S
Article: JBMR PLUS. 2022;6(8):e10660
Mosaic Deletions of Known Genes Explain Skeletal Dysplasias With High and Low Bone Mass
Muurinen M; Taylan F; Tournis S; Eisfeldt J; Balanika A; Vastardis H; Ala-Mello S; Makitie O; Costantini A
Article: CLINICAL NUTRITION. 2022;41(2):279-287
Iron status in early childhood is modified by diet, sex and growth: Secondary analysis of a randomized controlled vitamin D trial
Holmlund-Suila EM; Hauta-alus HH; Enlund-Cerullo M; Rosendahl J; Valkama SM; Andersson S; Makitie O
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2022;107(2):e528-e537
Pregnancy Outcome in Women With APECED (APS-1): A Multicenter Study on 43 Females With 83 Pregnancies
Laakso S; Holopainen E; Betterle C; Saari V; Vogt E; Schmitt MM; Winer KK; Kareva M; Sabbadin C; Husebye ES; Orlova E; Lionakis MS; Makitie O
Article: FRONTIERS IN ENDOCRINOLOGY. 2022;13:904507
Recurrent Hypokalemia and Adrena Steroids in Patients With APECED
Borchers J; Makitie O; Jaaskelainen J; Laakso S
Article: FRONTIERS IN PEDIATRICS. 2022;10:969881
Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome
Loid P; Lipsanen-Nyman M; Ala-Mello S; Hannula-Jouppi K; Kere J; Makitie O; Muurinen M
Article: FRONTIERS IN IMMUNOLOGY. 2022;13:1004694
Lymphomas in cartilage-hair hypoplasia - A case series of 16 patients reveals advanced stage DLBCL as the most common form
Kukkola H-L; Utriainen P; Huttunen P; Taskinen M; Maekitie O; Vakkilainen S
Article: FRONTIERS IN ENDOCRINOLOGY. 2022;13:954730
Lipocalin-2 is associated with FGF23 in WNT1 and PLS3 osteoporosis
Loid P; Hauta-Alus H; Makitie O; Magnusson P; Makitie RE
Article: FRONTIERS IN MOLECULAR BIOSCIENCES. 2022;9:1032026
A multi-omics study to characterize the transdifferentiation of human dermal fibroblasts to osteoblast-like cells
Pihlstrom S; Maatta K; Ohman T; Makitie RE; Aronen M; Varjosalo M; Makitie O; Pekkinen M
Article: FRONTIERS IN GENETICS. 2022;13:839349
Targeted Exome Sequencing of Genes Involved in Rare CNVs in Early-Onset Severe Obesity
Loid P; Pekkinen M; Mustila T; Tossavainen P; Viljakainen H; Lindstrand A; Maekitie O
Article: FRONTIERS IN ENDOCRINOLOGY. 2022;13:845889
A Novel Osteochondrodysplasia With Empty Sella Associates With a TBX2 Variant
Maekitie RE; Toiviainen-Salo S; Kaitila I; Maekitie O
Article: THERAPEUTIC ADVANCES IN CHRONIC DISEASE. 2022;13:20406223221117471
Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-Linked hypophosphataemia: rationale and description
Brandi ML; Ariceta G; Beck-Nielsen SS; Boot AM; Briot K; de Lucas Collantes C; Emma F; Giannini S; Haffner D; Keen R; Levtchenko E; Makitie O; Nilsson O; Schnabel D; Tripto-Shkolnik L; Zillikens MC; Liu J; Tudor A; Mughal MZ
Article: PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA. 2021;118(51):e2100687118
A gene-centric approach to biomarker discovery identifies transglutaminase 1 as an epidermal autoantigen.
Landegren N; Ishii N; Aranda-Guillén M; Gunnarsson HI; Sardh F; Hallgren Å; Ståhle M; Hagforsen E; Bradley M; Edqvist P-HD; Pontén F; Mäkitie O; Eidsmo L; Norlén L; Achour A; Dahlbom I; Korponay-Szabó I; Agardh D; Alimohammadi M; Eriksson D; Hashimoto T; Kämpe O
Article: CALCIFIED TISSUE INTERNATIONAL. 2021;109(6):626-632
A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report
Makitie RE; Pekkinen M; Morisada N; Kobayashi D; Yonezawa Y; Nishimura G; Ikegawa S; Makitie O
Article: JBMR PLUS. 2021;5(11):e10537
Abnormal Bone Tissue Organization and Osteocyte Lacunocanalicular Network in Early-Onset Osteoporosis Due to SGMS2 Mutations
Makitie RE; Blouin S; Valimaki V-V; Pihlstrom S; Maatta K; Pekkinen M; Fratzl-Zelman N; Makitie O; Hartmann MA
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2021;106(11):3312-3319
Women With Chronic Hypoparathyroidism Have Low Risk of Adverse Pregnancy Outcomes
Bjornsdottir S; Clarke B; Makitie O; Sandstrom A; Tiblad E; Spelman T; Kampe O
Article: EUROPEAN JOURNAL OF ENDOCRINOLOGY (EJE). 2021;185(5):K13-K17
Infections and demanding endocrine care contribute to increased mortality in patients with APECED
Borchers J; Makitie O; Laakso S
Article: CLINICAL IMMUNOLOGY. 2021;231:108851
Patients with autoimmune polyendocrine syndrome type 1 have an increased susceptibility to severe herpesvirus infections
Hetemaki I; Laakso S; Valimaa H; Kleino I; Kekalainen E; Makitie O; Arstila TP
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2021;106(10):2865-2875
Phosphate Concentrations and Modifying Factors in Healthy Children From 12 to 24 Months of Age
Koljonen L; Enlund-Cerullo M; Hauta-Alus H; Holmlund-Suila E; Valkama S; Rosendahl J; Andersson S; Pekkinen M; Makitie O
Article: ACTA ONCOLOGICA. 2021;60(9):1140-1145
Bisphosphonate treatment in children with acute lymphoblastic leukemia and osteonecrosis - radiological and clinical findings in a national cohort
Utriainen P; Niinimaki TT; Huurre AJ; Vepsalainen KL; Makitie OM; Niinimaki RA
Article: JAMA NETWORK OPEN. 2021;4(9):e2124493
Effect of High-Dose vs Standard-Dose Vitamin D Supplementation on Neurodevelopment of Healthy Term Infants A Randomized Clinical Trial
Tuovinen S; Raikkonen K; Holmlund-Suila E; Hauta-Alus H; Helve O; Rosendahl J; Enlund-Cerullo M; Kajantie E; Valkama S; Viljakainen H; Makitie O; Andersson S; Heinonen K
Article: BMC MUSCULOSKELETAL DISORDERS. 2021;22(1):630
RAB33B and PCNT variants in two Pakistani families with skeletal dysplasia and short stature
Ain NU; Fatima Z; Naz S; Makitie O
Article: JBMR PLUS. 2021;5(7):e10509
An ARHGAP25 variant links aberrant Rac1 function to early-onset skeletal fragility
Makitie RE; Henning P; Jiu Y; Kampe A; Kogan K; Costantini A; Valimaki V-V; Medina-Gomez C; Pekkinen M; Salusky IB; Schalin-Jantti C; Haanpaa MK; Rivadeneira F; Bassett JHD; Williams GR; Lerner UH; Pereira RC; Lappalainen P; Makitie O
Article: JOURNAL OF CLINICAL IMMUNOLOGY. 2021;41(5):1064-1071
Pulmonary Follow-Up Imaging in Cartilage-Hair Hypoplasia: a Prospective Cohort Study
Vakkilainen S; Klemetti P; Martelius T; Seppanen MJR; Makitie O; Toiviainen-Salo S
Article: ACTA PAEDIATRICA, INTERNATIONAL JOURNAL OF PAEDIATRICS. 2021;110(7):2252-2258
Prevalence of and factors influencing vitamin D deficiency in paediatric patients diagnosed with cancer at northern latitudes
Jackmann N; Gustafsson J; Harila-Saari A; Ljungman G; Nezirevic Dernroth D; Frisk P; Makitie O
Article: ORPHANET JOURNAL OF RARE DISEASES. 2021;16(1):236
Towards an ICF-based self-report questionnaire for people with skeletal dysplasia to study health, functioning, disability and accessibility
Anttila H; Tallqvist S; Munoz M; Leppajoki-Tiistola S; Makitie O; Hiekkala S
Article: JOURNAL OF MEDICAL GENETICS. 2021;58(5):351-356
Novel form of rhizomelic skeletal dysplasia associated with a homozygous variant in GNPNAT1
Ain NU; Baroncelli M; Costantini A; Ishaq T; Taylan F; Nilsson O; Makitie O; Naz S
Article: BONE. 2021;146:115900
Bone material properties and response to teriparatide in osteoporosis due to WNT1 and PLS3 mutations
Fratzl-Zelman N; Wesseling-Perry K; Makitie RE; Blouin S; Hartmann MA; Zwerina J; Valimaki V-V; Laine CM; Valimaki MJ; Pereira RC; Makitie O
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2021;106(3):e1140-e1155
The Effects of Vitamin D Supplementation During Infancy on Growth During the First 2 Years of Life
Hauta-Alus HH; Holmlund-Suila EM; Kajantie E; Rosendahl J; Valkama SM; Enlund-Cerullo M; Andersson S; Makitie O
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2021;106(2):e739-e748
Early Detection of Abnormal Growth Associated with Juvenile Acquired Hypothyroidism
Saari A; Pokka J; Makitie O; Saha M-T; Dunkel L; Sankilampi U
Article: BMC MUSCULOSKELETAL DISORDERS. 2021;22(1):61
Positive airway pressure therapy for obstructive sleep apnea in patients with Osteogenesis imperfecta: a prospective pilot study
Arponen H; Bachour A; Back L; Valta H; Makitie A; Makitie O; Waltimo-Siren J
Article: BMC MUSCULOSKELETAL DISORDERS. 2021;22(1):31
Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report
Yasin S; Makitie O; Naz S
Article: FRONTIERS IN ENDOCRINOLOGY. 2021;12:741548
Craniofacial and Craniocervical Features in Cartilage-Hair Hypoplasia: A Radiological Study of 17 Patients and 34 Controls
Arponen H; Evaelahti M; Maekitie O
Article: FRONTIERS IN ENDOCRINOLOGY. 2021;12:784195
Endocrine Disorders and Genital Infections Impair Gynecological Health in APECED (APS-1)
Saari V; Laakso S; Tiitinen A; Maekitie O; Holopainen E
Article: FRONTIERS IN PEDIATRICS. 2021;9:610227
Serum and Urinary Osteocalcin in Healthy 7-to 19-Year-Old Finnish Children and Adolescents
Paldanius PM; Ivaska KK; Makitie O; Viljakainen H
Article: FRONTIERS IN IMMUNOLOGY. 2021;12:668219
Fecal Bacteria Implicated in Biofilm Production Are Enriched and Associate to Gastrointestinal Symptoms in Patients With APECED - A Pilot Study
Hetemaki I; Jian C; Laakso S; Makitie O; Pajari A-M; de Vos WM; Arstila TP; Salonen A
Article: FRONTIERS IN GENETICS. 2021;12:680838
Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia
Costantini A; Valta H; Suomi A-M; Makitie O; Taylan F
Article: HUMAN MUTATION. 2021;42(1):89-101
Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature
Ain NU; Muhammad N; Dianatpour M; Baroncelli M; Iqbal M; Fard MAF; Bukhari I; Ahmed S; Hajipour M; Tabatabaie Z; Foroutan H; Nilsson O; Faghihi MA; Makitie O; Naz S
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2021;185(1):112-118
A new family with epiphyseal chondrodysplasia type Miura
Kenis V; Melchenko E; Mazunin I; Pekkinen M; Makitie O
Article: BMC MUSCULOSKELETAL DISORDERS. 2020;21(1):808
Functioning and equality according to International Classification of Functioning, Disability and Health (ICF) in people with skeletal dysplasia compared to matched control subjects - a cross-sectional survey study
Hyvonen H; Anttila H; Tallqvist S; Munoz M; Leppajoki-Tiistola S; Teittinen A; Makitie O; Hiekkala S
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;37(9):1653-1664
Collagen X Biomarker (CXM), Linear Growth, and Bone Development in a Vitamin D Intervention Study in Infants
Hauta-alus HH; Holmlund-Suila EM; Valkama SM; Enlund-Cerullo M; Rosendahl J; Coghlan RF; Andersson S; Makitie O
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;37(9):1642-1652
Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia
Reilly ML; ul Ain N; Muurinen M; Tata A; Huber C; Simon M; Ishaq T; Shaw N; Rusanen S; Pekkinen M; Hogler W; Knapen MFCM; van den Born M; Saunier S; Naz S; Cormier-Daire V; Benmerah A; Makitie O
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;37(1):12-20
An Expert Perspective on Phosphate Dysregulation With a Focus on Chronic Hypophosphatemia
Aljuraibah F; Bacchetta J; Brandi ML; Florenzano P; Javaid MK; Makitie O; Raimann A; Rodriguez M; Siggelkow H; Tiosano D; Vervloet M; Wagner CA
Article: BONE. 2020;141:115670
Peripheral quantitative computed tomography (pQCT) in 12-and 24-month-old children - Practical aspects and descriptive data
Valkama S; Holmlund-Suila E; Ireland A; Hauta-alus H; Enlund-Cerullo M; Rosendahl J; Andersson S; Makitie O
Article: BONE. 2020;141:115629
Fibroblast growth factor 23 concentrations and modifying factors in children from age 12 to 24 months
Enlund-Cerullo M; Hauta-alus H; Valkama S; Rosendahl J; Andersson S; Maekitie O; Holmlund-Suila E
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;36(2):283-297
NovelRPL13Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia
Costantini A; Alm JJ; Tonelli F; Valta H; Huber C; Tran AN; Daponte V; Kirova N; Kwon Y-U; Bae JY; Chung WY; Tan S; Sznajer Y; Nishimura G; Nareoja T; Warren AJ; Cormier-Daire V; Kim O-H; Forlino A; Cho T-J; Makitie O
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;35(10):1962-1973
Unique, Gender-Dependent SerummicroRNAProfile inPLS3Gene-Related Osteoporosis
Makitie RE; Hackl M; Weigl M; Frischer A; Kampe A; Costantini A; Grillari J; Makitie O
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;35(12):2381-2392
Exome Sequencing Reveals a Phenotype Modifying Variant inZNF528in Primary Osteoporosis With aCOL1A2Deletion
Skarp S; Xia J-H; Zhang Q; Loija M; Costantini A; Ruddock LW; Makitie O; Wei G-H; Mannikko M
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;35(5):901-912
Biomarkers in WNT1 and PLS3 Osteoporosis: Altered Concentrations of DKK1 and FGF23
Makitie RE; Kampe A; Costantini A; Alm JJ; Magnusson P; Makitie O
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;35(5):875-882
Increased Burden of Common Risk Alleles in Children With a Significant Fracture History
Manousaki D; Kampe A; Forgetta V; Makitie RE; Bardai G; Belisle A; Li R; Andersson S; Makitie O; Rauch F; Richards JB
Article: ORPHANET JOURNAL OF RARE DISEASES. 2020;15(1):326
Outcomes of 42 pregnancies in 14 women with cartilage-hair hypoplasia: a retrospective cohort study
Holopainen E; Vakkilainen S; Makitie O
Article: EUROPEAN JOURNAL OF ENDOCRINOLOGY (EJE). 2020;183(5):513-520
Pubertal development and premature ovarian insufficiency in patients with APECED
Saari V; Holopainen E; Makitie O; Laakso S
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2020;63(8):103958
A novel homozygous missense variant in MATN3 causes spondylo- epimetaphyseal dysplasia Matrilin 3 type in a consanguineous family
Yasin S; Mustafa S; Ayesha A; Latif M; Hassan M; Faisal M; Makitie O; Iqbal F; Naz S
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2020;63(8):103954
Biallelic variants in four genes underlying recessive osteogenesis imperfecta
Hayat A; Hussain S; Bilal M; Kausar M; Almuzzaini B; Abbas S; Tanveer A; Khan A; Siddiqi S; Foo JN; Ahmad F; Khan F; Khan B; Anees M; Makitie O; Alfadhel M; Ahmad W; Umair M
Article: ORPHANET JOURNAL OF RARE DISEASES. 2020;15(1):172
The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study
Padidela R; Nilsson O; Makitie O; Beck-Nielsen S; Ariceta G; Schnabel D; Brandi ML; Boot A; Levtchenko E; Smyth M; Jandhyala R; Mughal Z
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2020;105(6):dgaa140-e2213
Patients With APECED Have Increased Early Mortality Due to Endocrine Causes, Malignancies and infections
Borchers J; Pukkala E; Makitie O; Laakso S
Article: PEDIATRIC BLOOD AND CANCER. 2020;67(4):e28163
Vitamin D status in children with leukemia, its predictors, and association with outcome
Jackmann N; Makitie O; Harila-Saari A; Gustafsson J; Nezirevic Dernroth D; Frisk P
Article: FRONTIERS IN PEDIATRICS. 2020;8:145
GNAS, PDE4D, and PRKAR1A Mutations and GNAS Methylation Changes Are Not a Common Cause of Isolated Early-Onset Severe Obesity Among Finnish Children
Loid P; Pekkinen M; Reyes M; Mustila T; Viljakainen H; Juppner H; Makitie O
Article: HORMONE RESEARCH IN PAEDIATRICS. 2020;93(3):182-196
Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients
Mantovani G; Bastepe M; Monk D; De Sanctis L; Thiele S; Ahmed SF; Bufo R; Choplin T; De Filippo G; Devernois G; Eggermann T; Elli FM; Garcia Ramirez A; Germain-Lee EL; Groussin L; Hamdy NAT; Hanna P; Hiort O; Jueppner H; Kamenicky P; Knight N; Le Norcy E; Lecumberri B; Levine MA; Maekitie O; Martin R; Martos-Moreno GA; Minagawa M; Murray P; Pereda A; Pignolo R; Rejnmark L; Rodado R; Rothenbuhler A; Saraff V; Shoemaker AH; Shore EM; Silve C; Turan S; Woods P; Zillikens MC; Perez de Nanclares G; Linglart A
Article: FRONTIERS IN ENDOCRINOLOGY. 2020;11:393
PLS3Mutations Cause Severe Age and Sex-Related Spinal Pathology
Makitie RE; Niinimaki T; Suo-Palosaari M; Kampe A; Costantini A; Toiviainen-Salo S; Niinimaki J; Makitie O
Article: JOURNAL OF MEDICAL GENETICS. 2020;57(1):18-22
'Metaphyseal dysplasia without hypotrichosis' can present with late-onset extraskeletal manifestations
Vakkilainen S; Costantini A; Taskinen M; Wartiovaara-Kautto U; Makitie O
Article: FRONTIERS IN ENDOCRINOLOGY. 2020;11:109
Severe Phenotype of APECED (APS1) Increases Risk for Structural Bone Alterations
Laakso S; Borchers J; Toiviainen-Salo S; Pekkinen M; Makitie O
Article: FRONTIERS IN ENDOCRINOLOGY. 2020;11:81
Rare Variants in Genes Linked to Appetite Control and Hypothalamic Development in Early-Onset Severe Obesity
Loid P; Mustila T; Makitie RE; Viljakainen H; Kampe A; Tossavainen P; Lipsanen-Nyman M; Pekkinen M; Makitie O
Article: FRONTIERS IN IMMUNOLOGY. 2020;11:2020
The Safety and Efficacy of Live Viral Vaccines in Patients With Cartilage-Hair Hypoplasia
Vakkilainen S; Kleino I; Honkanen J; Salo H; Kainulainen L; Grasbeck M; Kekalainen E; Makitie O; Klemetti P
Article: PLOS GENETICS. 2019;15(12):e1008530
Genetic variation in GC and CYP2R1 affects 25-hydroxyvitamin D concentration and skeletal parameters: A genome-wide association study in 24-month-old Finnish children
Kampe A; Enlund-Cerullo M; Valkama S; Holmlund-Suila E; Rosendahl J; Hauta-alus H; Pekkinen M; Andersson S; Makitie O
Article: OSTEOARTHRITIS AND CARTILAGE. 2019;27(11):1636-1646
Defective WNT signaling may protect from articular cartilage deterioration - a quantitative MRI study on subjects with a heterozygous WNT1 mutation
Lehtovirta S; Makitie RE; Casula V; Haapea M; Niinimaki J; Niinimaki T; Peuna A; Lammentausta E; Makitie O; Nieminen MT
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2019;62(11):103573
Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes
Kausar M; Makitie RE; Toiviainen-Salo S; Ignatius J; Anees M; Makitie O
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2019;104(11):5483-5498
Genetic Variation of the Vitamin D Binding Protein Affects Vitamin D Status and Response to Supplementation in Infants
Enlund-Cerullo M; Koljonen L; Holmlund-Suila E; Hauta-Alus H; Rosendahl J; Valkama S; Helve O; Hytinantti T; Viljakainen H; Andersson S; Makitie O; Pekkinen M
Article: SCIENTIFIC REPORTS. 2019;9(1):13758
The human long non-coding RNA gene RMRP has pleiotropic effects and regulates cell-cycle progression at G2
Vakkilainen S; Skoog T; Einarsdottir E; Middleton A; Pekkinen M; Ohman T; Katayama S; Krjutskov K; Kovanen PE; Varjosalo M; Lindqvist A; Kere J; Makitie O
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2019;62(9):103554
Novel variants in natriuretic peptide receptor 2 in unrelated patients with acromesomelic dysplasia type Maroteaux
ul Ain N; Iqbal M; Valta H; Emerling CA; Ahmed S; Makitie O; Naz S
Article: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2019;144(1):327-330.e8
The autoimmune targets in IPEX are dominated by gut epithelial proteins
Eriksson D; Bacchetta R; Gunnarsson HI; Chan A; Barzaghi F; Ehl S; Hallgren A; van Gool F; Sardh F; Lundqvist C; Laakso SM; Ronnblom A; Ekwall O; Makitie O; Bensing S; Husebye ES; Anderson M; Kampe O; Landegren N
Article: JOURNAL OF PEDIATRICS. 2019;209:139-145.e1
High-Dose Vitamin D Supplementation Does Not Prevent Allergic Sensitization of Infants
Rosendahl J; Pelkonen AS; Helve O; Hauta-alus H; Holmlund-Suila E; Valkama S; Enlund-Cerullo M; Viljakainen H; Hytinantti T; Makitie O; Andersson S; Makela MJ
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2019;34(6):1129-1142
Mesenchymal Cell-Derived Juxtacrine Wnt1 Signaling Regulates Osteoblast Activity and Osteoclast Differentiation
Wang F; Tarkkonen K; Nieminen-Pihala V; Nagano K; Al Majidi R; Puolakkainen T; Rummukainen P; Lehto J; Roivainen A; Zhang F-P; Makitie O; Baron R; Kiviranta R
Article: ENDOCRINE CONNECTIONS. 2019;8(5):559-570
A preliminary transcriptome analysis suggests a transitory effect of vitamin D on mitochondrial function in obese young Finnish subjects
Einarsdottir E; Pekkinen M; Krjutskov K; Katayama S; Kere J; Makitie O; Viljakainen H
Article: JCI INSIGHT. 2019;4(7):126180
Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2
Pekkinen M; Terhal PA; Botto LD; Henning P; Makitie RE; Roschger P; Jain A; Kol M; Kjellberg MA; Paschalis EP; van Lassen K; Murray M; Bayrak-Toydemir P; Magnusson MK; Jans J; Kausar M; Carey JC; Somerharju P; Lerner UH; Olkkonen VM; Klaushofer K; Holthuis JCM; Makitie O
Article: BONE. 2019;121:163-171
Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with "corner fractures"
Costantini A; Valta H; Baratang NV; Yap P; Bertola DR; Yamamoto GL; Kim CA; Chen J; Wierenga KJ; Fanning EA; Escobar L; McWalter K; McLaughlin H; Willaert R; Begtrup A; Alm JJ; Reinhardt DP; Makitie O; Campeau PM
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2019;104(3):439-453
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia
Chang HR; Cho SY; Lee JH; Lee E; Seo J; Lee HR; Cavalcanti DP; Makitie O; Valta H; Girisha KM; Lee C; Neethukrishna K; Bhavani GS; Shukla A; Nampoothiri S; Phadkei SR; Park MJ; Ikegawa S; Wang Z; Higgs MR; Stewart GS; Jung E; Lee M-S; Park JH; Lee EA; Kim H; Myung K; Jeon W; Lee K; Kim D; Kim O-H; Choi M; Lee H-W; Kim Y; Cho T-J
Article: CLINICAL PEDIATRICS. 2019;58(2):241-244
Vitamin D Status in Children With Hemato-Oncological Diseases in Northern Finland
Lumme J; Mottonen M; Pokka T; Makitie O; Harila-Saari A; Niinimaki R
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2019;179(2):190-195
Gynecologic health in cartilage-hair hypoplasia: A survey of 26 adult females
Holopainen E; Vakkilainen S; Makitie O
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2019;104(2):397-407
High Pregnancy, Cord Blood, and Infant Vitamin D Concentrations May Predict Slower Infant Growth
Hauta-alus HH; Kajantie E; Holmlund-Suila EM; Rosendahl J; Valkama SM; Enlund-Cerullo M; Helve OM; Hytinantti TK; Viljakainen H; Andersson S; Makitie O
Article: FRONTIERS IN GENETICS. 2019;10:144
A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family
Kausar M; Chew EGY; Ullah H; Anees M; Khor CC; Foo IN; Makitie O; Siddiqi S
Article: FRONTIERS IN IMMUNOLOGY. 2019;10:1581
A 30-Year Prospective Follow-Up Study Reveals Risk Factors for Early Death in Cartilage-Hair Hypoplasia
Vakkilainen S; Taskinen M; Klemetti P; Pukkala E; Makitie O
Article: FRONTIERS IN ENDOCRINOLOGY. 2019;10:555
Gonadal Failure Is Common in Long-Term Survivors of Childhood High-Risk Neuroblastoma Treated With High-Dose Chemotherapy and Autologous Stem Cell Rescue
Utriainen P; Suominen A; Makitie O; Jahnukainen K
Article: ORPHANET JOURNAL OF RARE DISEASES. 2018;13(1):231
Is sleep apnea underdiagnosed in adult patients with osteogenesis imperfecta? -a single-center cross-sectional study
Arponen H; Bachour A; Back L; Valta H; Makitie A; Waltimo-Siren J; Makitie O
Article: JOURNAL OF BIOMEDICAL SCIENCE. 2018;25(1):82
Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta
Kausar M; Siddiqi S; Yaqoob M; Mansoor S; Makitie O; Mir A; Khor CC; Foo JN; Anees M
Article: ORPHANET JOURNAL OF RARE DISEASES. 2018;13(1):207
Gynecologic assessment of 19 adult females with cartilage-hair hypoplasia - high rate of HPV positivity
Holopainen E; Vakkilainen S; Makitie O
Article: PLOS GENETICS. 2018;14(11):e1007780
Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization
Nazaryan-Petersen L; Eisfeldt J; Pettersson M; Lundin J; Nilsson D; Wincent J; Lieden A; Lovmar L; Ottosson J; Gacic J; Makitie O; Nordgren A; Vezzi F; Wirta V; Kaller M; Hjortshoj TD; Jespersgaard C; Houssari R; Pignata L; Bak M; Tommerup N; Lundberg ES; Tumer Z; Lindstrand A
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2018;61(10):612-615
Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7
Costantini A; Wallgren-Pettersson C; Makitie O
Article: PEDIATRIC BLOOD AND CANCER. 2018;65(10):e27300
Comparing osteonecrosis clinical phenotype, timing, and risk factors in children and young adults treated for acute lymphoblastic leukemia
Mogensen SS; Harila-Saari A; Makitie O; Myrberg IH; Niinimaki R; Vestli A; Hafsteinsdottir S; Griskevicius L; Saks K; Hallbook H; Retpen J; Helt LR; Toft N; Schmiegelow K; Frandsen TL
Article: CALCIFIED TISSUE INTERNATIONAL. 2018;103(3):353-358
Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation
Costantini A; Tournis S; Kampe A; Ul Ain N; Taylan F; Doulgeraki A; Makitie O
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2018;176(9):1972-1975
A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability
Loid P; Makitie R; Costantini A; Viljakainen H; Pekkinen M; Makitie O
Article: NATURE REVIEWS ENDOCRINOLOGY. 2018;14(8):476-500
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement
Mantovani G; Bastepe M; Monk D; de Sanctis L; Thiele S; Usardi A; Ahmed SF; Bufo R; Choplin T; De Filippo G; Devernois G; Eggermann T; Elli FM; Freson K; Garcia Ramirez A; Germain-Lee EL; Groussin L; Hamdy N; Hanna P; Hiort O; Juppner H; Kamenicky P; Knight N; Kottler M-L; Le Norcy E; Lecumberri B; Levine MA; Makitie O; Martin R; Angel Martos-Moreno G; Minagawa M; Murray P; Pereda A; Pignolo R; Rejnmark L; Rodado R; Rothenbuhler A; Saraff V; Shoemaker AH; Shore EM; Silve C; Turan S; Woods P; Zillikens MC; Perez de Nanclares G; Linglart A
Article: JOURNAL OF HUMAN GENETICS. 2018;63(8):923-926
A novel frameshift deletion in PLS3 causing severe primary osteoporosis
Costantini A; Krallis PN; Kampe A; Karavitakis EM; Taylan F; Makitie O; Doulgeraki A
Article: JOURNAL OF PEDIATRIC AND ADOLESCENT GYNECOLOGY. 2018;31(4):422-425
Diversity of Pubertal Development in Cartilage-Hair Hypoplasia; Two Illustrative Cases
Holopainen E; Vakkilainen S; Makitie O
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2018;176(8):1723-1734
Growth in achondroplasia: Development of height, weight, head circumference, and body mass index in a European cohort
Merker A; Neumeyer L; Hertel NT; Grigelioniene G; Makitie O; Mohnike K; Hagenas L
Article: JAMA PEDIATRICS. 2018;172(7):646-654
Effect of Higher vs Standard Dosage of Vitamin D₃ Supplementation on Bone Strength and Infection in Healthy Infants A Randomized Clinical Trial
Rosendahl J; Valkama S; Holmlund-Suila E; Enlund-Cerullo M; Hauta-alus H; Helve O; Hytinantti T; Levalahti E; Kajantie E; Viljakainen H; Makitie O; Andersson S
Article: JOURNAL OF MEDICAL GENETICS. 2018;55(6):403-407
Autosomal recessive chondrodysplasia with severe short stature caused by a biallelic COL10A1 variant
ul Ain N; Makitie O; Naz S
Article: EUROPEAN JOURNAL OF NUTRITION. 2018;57(4):1369-1379
Season, dietary factors, and physical activity modify 25-hydroxyvitamin D concentration during pregnancy
Hauta-alus HH; Holmlund-Suila EM; Rita HJ; Enlund-Cerullo M; Rosendahl J; Valkama SM; Helve OM; Hytinantti TK; Surcel H-M; Makitie OM; Andersson S; Viljakainen HT
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2018;103(5):1985-1996
Altered MicroRNA Profile in Osteoporosis Caused by Impaired WNT Signaling
Makitie RE; Hackl M; Niinimaki R; Kakko S; Grillari J; Makitie O
Article: OSTEOPOROSIS INTERNATIONAL. 2018;29(2):479-487
Defective WNT signaling associates with bone marrow fibrosis-a cross-sectional cohort study in a family with WNT1 osteoporosis
Makitie RE; Niinimaki R; Kakko S; Honkanen T; Kovanen PE; Makitie O
Article: BMC MUSCULOSKELETAL DISORDERS. 2018;19(1):3
Fatigue and disturbances of sleep in patients with osteogenesis imperfecta - a cross-sectional questionnaire study
Arponen H; Waltimo-Siren J; Valta H; Makitie O
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2018;33(1):32-41
Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss-of-Function G₁₁ Mutation
Gorvin CM; Hannan FM; Cranston T; Valta H; Makitie O; Schalin-Jantti C; Thakker RV
Article: FRONTIERS IN ENDOCRINOLOGY. 2018;9:96
Polyostotic Fibrous Dysplasia With and Without McCune-Albright Syndrome-Clinical Features in a Nordic Pediatric Cohort
Utriainen P; Valta H; Bjornsdottir S; Makitie O; Horemuzova E
Article: FRONTIERS IN ENDOCRINOLOGY. 2018;9:380
Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility
Costantini A; Skarp S; Kampe A; Makitie RE; Pettersson M; Mannikko M; Jiao H; Taylan F; Lindstrand A; Makitie O
Article: HORMONE RESEARCH IN PAEDIATRICS. 2018;89(6):442-449
Testicular Function and Bone in Young Men with Severe Childhood-Onset Obesity
Laakso S; Viljakainen H; Lipsanen-Nyman M; Turpeinen U; Ivaska KK; Anand-Ivell R; Ivell R; Makitie O
Article: PLOS ONE. 2018;13(2):e0192596
Low free 25-hydroxyvitamin D and high vitamin D binding protein and parathyroid hormone in obese Caucasians. A complex association with bone?
Saarnio E; Pekkinen M; Itkonen ST; Kemi V; Karp H; Ivaska KK; Risteli J; Koivula M-K; Karkkainen M; Makitie O; Sievanen H; Lamberg-Allardt C
Article: FRONTIERS IN ENDOCRINOLOGY. 2018;9:463
Oral Tongue Malignancies in Autoimmune Polyendocrine Syndrome Type 1
Bruserud O; Costea D-E; Laakso S; Garty B-Z; Mathisen E; Makitie A; Makitie O; Husebye ES
Article: FRONTIERS IN IMMUNOLOGY. 2018;9:2468
A Wide Spectrum of Autoimmune Manifestations and Other Symptoms Suggesting Immune Dysregulation in Patients With Cartilage-Hair Hypoplasia
Vakkilainen S; Makitie R; Klemetti P; Valta H; Taskinen M; Husebye ES; Makitie O
Article: BMC PREGNANCY AND CHILDBIRTH. 2017;17(1):420
Maternal vitamin D status, gestational diabetes and infant birth size
Hauta-alus HH; Viljakainen HT; Holmlund-Suila EM; Enlund-Cerullo M; Rosendahl J; Valkama SM; Helve OM; Hytinantti TK; Makitie OM; Andersson S
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2017;60(12):675-679
High bone mass due to novel LRP5 and AMER1 mutations
Costantini A; Kekalainen P; Makitie RE; Makitie O
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2017;32(12):2394-2404
PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization
Kampe AJ; Costantini A; Levy-shraga Y; Zeitlin L; Roschger P; Taylan F; Lindstrand A; Paschalis EP; Gamsjaeger S; Raas-Rothschild A; Hoevel M; Jiao H; Klaushofer K; Grasemann C; Makitie O
Article: NUTRIENTS. 2017;9(12):E1309-1309
Food and Nutrient Intake and Nutrient Sources in 1-Year-Old Infants in Finland: A Cross-Sectional Analysis
Hauta-alus HH; Korkalo L; Holmlund-Suila EM; Rosendahl J; Valkama SM; Enlund-Cerullo M; Helve OM; Hytinantti TK; Makitie OM; Andersson S; Viljakainen HT
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2017;102(12):4526-4533
Sex and Iron Modify Fibroblast Growth Factor 23 Concentration in 1-Year-Old Children
Holmlund-Suila E; Enlund-Cerullo M; Valkama S; Hauta-alus H; Rosendahl J; Helve O; Hytinantti T; Viljakainen H; Andersson S; Makitie O
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2017;173(12):3195-3200
Two novel mutations in XYLT2 cause spondyloocular syndrome
Taylan F; Abali ZY; Jaentti N; Gunes N; Darendeliler F; Bas F; Poyrazoglu S; Tamcelik N; Tuysuz B; Makitie O
Article: PEDIATRIC BLOOD AND CANCER. 2017;64(11)
Early presentation of osteonecrosis in acute lymphoblastic leukemia: Two children from the Nordic and Baltic cohort
Mogensen SS; Harila-Saari A; Frandsen TL; Lahteenmaki P; Castor A; Kohonen I; Schmiegelow K; Makitie O
Article: OSTEOPOROSIS INTERNATIONAL. 2017;28(10):3023-3032
PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants
Kampe AJ; Costantini A; Makitie RE; Jantti N; Valta H; Mayranpaa M; Kroger H; Pekkinen M; Taylan F; Jiao H; Makitie O
Article: CLINICAL GENETICS. 2017;92(2):204-207
Cartilage-hair hypoplasia with normal height in childhood-4 patients with a unique genotype
Klemetti P; Valta H; Kostjukovits S; Taskinen M; Toiviainen-Salo S; Makitie O
Article: BONE. 2017;101:3-9
Impaired WNT signaling and the spine-Heterozygous WNT1 mutation causes severe age-related spinal pathology
Makitie RE; Niinimaki T; Nieminen MT; Schalin-Jantti C; Niinimaki J; Makitie O
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2017;102(8):3029-3039
Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways
Pettersson M; Viljakainen H; Loid P; Mustila T; Pekkinen M; Armenio M; Andersson-Assarsson JC; Makitie O; Lindstrand A
Article: ACTA OTO-LARYNGOLOGICA. 2017;137(7):778-785
Cachexia at diagnosis is associated with poor survival in head and neck cancer patients
Orell-Kotikangas H; Osterlund P; Makitie O; Saarilahti K; Ravasco P; Schwab U; Makitie AA
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2017;102(7):2340-2348
Osteocyte Protein Expression Is Altered in Low-Turnover Osteoporosis Caused by Mutations in WNT1 and PLS3
Wesseling-Perry K; Makitie RE; Valimaki V-V; Laine TK; Laine CM; Valimaki MJ; Pereira RC; Makitie O
Article: JOURNAL OF MEDICAL GENETICS. 2017;54(5):365-370
Decreased telomere length in children with cartilage-hair hypoplasia
Kostjukovits S; Degerman S; Pekkinen M; Klemetti P; Landfors M; Roos G; Taskinen M; Makitie O
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2017;32(5):1116-1125
Abnormally High and Heterogeneous Bone Matrix Mineralization After Childhood Solid Organ Transplantation: A Complex Pathology of Low Bone Turnover and Local Defects in Mineralization
Fratzl-Zelman N; Valta H; Pereira RC; Misof BM; Roschger P; Jalanko H; Wesseling-Perry K; Klaushofer K; Makitie O
Article: PEDIATRIC RESEARCH. 2017;81(5):731-735
25-hydroxyvitamin D correlates with inflammatory markers in cord blood of healthy newborns
Rosendahl J; Holmlund-Suila E; Helve O; Viljakainen H; Hauta-alus H; Valkama S; Enlund-Cerullo M; Hytinantti T; Tervahartiala T; Sorsa T; Makitie O; Andersson S
Article: BONE MARROW TRANSPLANTATION. 2017;52(5):711-716
Skeletal outcome in long-term survivors of childhood high-risk neuroblastoma treated with high-dose therapy and autologous stem cell rescue
Utriainen P; Vatanen A; Toiviainen-Salo S; Saarinen-Pihkala U; Makitie O; Jahnukainen K
Article: CLINICAL DYSMORPHOLOGY. 2017;26(2):121-123
The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family
Iqbal M; Muhammad N; Ali SA; Kostjukovits S; Makitie O; Naz S
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2017;32(4):776-783
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gs Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B)
Grigelioniene G; Nevalainen PI; Reyes M; Thiele S; Tafaj O; Molinaro A; Takatani R; Ala-Houhala M; Nilsson D; Eisfeldt J; Lindstrand A; Kottler M-L; Makitie O; Juppner H
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2017;102(4):1333-1339
Bisphosphonate Treatment and the Characteristics of Femoral Fractures in Children With Osteogenesis Imperfecta
Vuorimies I; Mayranpaa MK; Valta H; Kroger H; Toiviainen-Salo S; Makitie O
Article: BMC PEDIATRICS. 2017;17(1):91
Towards evidence-based vitamin D supplementation in infants: vitamin D intervention in infants (VIDI) - study design and methods of a randomised controlled double-blinded intervention study
Helve O; Viljakainen H; Holmlund-Suila E; Rosendahl J; Hauta-alus H; Enlund-Cerullo M; Valkama S; Heinonen K; Raikkonen K; Hytinantti T; Makitie O; Andersson S
Article: HUMAN MUTATION. 2017;38(2):180-192
Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation
Nilsson D; Pettersson M; Gustavsson P; Forster A; Hofmeister W; Wincent J; Zachariadis V; Anderlid B-M; Nordgren A; Makitie O; Wirta V; Kaller M; Vezzi F; Lupski JR; Nordenskjold M; Lundberg ES; Carvalho CMB; Lindstrand A
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2017;102(2):535-544
Teriparatide Treatment in Patients With WNT1 or PLS3 Mutation-Related Early-Onset Osteoporosis: A Pilot Study
Valimaki V-V; Makitie O; Pereira R; Laine C; Wesseling-Perry K; Maatta J; Kirjavainen M; Viljakainen H; Valimaki MJ
Article: HORMONE RESEARCH IN PAEDIATRICS. 2017;88(3-4):244-250
A History of Cow's Milk Allergy Is Associated with Lower Vitamin D Status in Schoolchildren
Rosendahl J; Fogelholm M; Pelkonen A; Makela MJ; Makitie O; Erkkola M
Article: BONE. 2017;94:29-33
Timing of dental development in osteogenesis imperfecta patients with and without bisphosphonate treatment
Vuorimies I; Arponen H; Valta H; Tiesalo O; Ekholm M; Ranta H; Evalahti M; Makitie O; Waltimo-Siren J
Article: HORMONE RESEARCH IN PAEDIATRICS. 2017;88(2):147-154
No Severe Hypercalcemia with Daily Vitamin D₃ Supplementation of up to 30 μg during the First Year of Life
Valkama S; Holmlund-Suila E; Enlund-Cerullo M; Rosendahl J; Hauta-alus H; Helve O; Hytinantti T; Viljakainen H; Andersson S; Makitie O
Article: PLOS ONE. 2017;12(6):e0179660
Metabolic milieu associates with impaired skeletal characteristics in obesity
Viljakainen HT; Koistinen HA; Tervahartiala T; Sorsa T; Andersson S; Makitie O
Article: CLINICAL ENDOCRINOLOGY. 2016;85(3):378-385
Obese young adults exhibit lower total and lower free serum 25-hydroxycholecalciferol in a randomized vitamin D intervention
Holmlund-Suila E; Pekkinen M; Ivaska KK; Andersson S; Makitie O; Viljakainen H
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2016;31(9):1734-1742
Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults
Makitie RE; Haanpaa M; Valta H; Pekkinen M; Laine CM; Lehesjoki A-E; Schalin-Jantti C; Makitie O
Article: EUROPEAN JOURNAL OF ENDOCRINOLOGY (EJE). 2016;175(3):211-218
Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation
Tenhola S; Voutilainen R; Reyes M; Toiviainen-Salo S; Juppner H; Makitie O
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2016;31(8):1577-1585
Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum
Taylan F; Costantini A; Coles N; Pekkinen M; Heon E; Siklar Z; Berberoglu M; Kampe A; Kiykim E; Grigelioniene G; Tuysuz B; Makitie O
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2016;101(2):394-415
Global Consensus Recommendations on Prevention and Management of Nutritional Rickets
Munns CF; Shaw N; Kiely M; Specker BL; Thacher TD; Ozono K; Michigami T; Tiosano D; Mughal MZ; Makitie O; Ramos-Abad L; Ward L; DiMeglio LA; Atapattu N; Cassinelli H; Braegger C; Pettifor JM; Seth A; Idris HW; Bhatia V; Fu J; Goldberg G; Savendahl L; Khadgawat R; Pludowski P; Maddock J; Hypponen E; Oduwole A; Frew E; Aguiar M; Tulchinsky T; Butler G; Hogler W
Article: STUDIES IN HEALTH TECHNOLOGY AND INFORMATICS. 2016;229:402-404
Functioning and Challenges in Equality and Accessibility Among People with Short Stature.
Pesola K; Anttila H; Mäkitie O; Leppäjoki S; Hiekkala S
Article: INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY. 2016;170(3):141-148
Serum 25-Hydroxyvitamin D in Early Childhood Is Nonlinearly Associated with Allergy
Savilahti EM; Makitie O; Kukkonen AK; Andersson S; Viljakainen H; Savilahti E; Kuitunen M
Article: HORMONE RESEARCH IN PAEDIATRICS. 2016;85(4):232-241
Fibroblast Growth Factor 23 Concentrations Reflect Sex Differences in Mineral Metabolism and Growth in Early Infancy
Holmlund-Suila E; Viljakainen H; Ljunggren O; Hytinantti T; Andersson S; Makitie O
Article: HORMONE RESEARCH IN PAEDIATRICS. 2016;85(2):83-106
Global Consensus Recommendations on Prevention and Management of Nutritional Rickets
Munns CF; Shaw N; Kiely M; Specker BL; Thacher TD; Ozono K; Michigami T; Tiosano D; Mughal MZ; Maekitie O; Ramos-Abad L; Ward L; DiMeglio LA; Atapattu N; Cassinelli H; Braegger C; Pettifor JM; Seth A; Idris HW; Bhatia V; Fu J; Goldberg G; Saevendahl L; Khadgawat R; Pludowski P; Maddock J; Hyppoenen E; Oduwole A; Frew E; Aguiar M; Tulchinsky T; Butler G; Hoegler W; Aguiar M; Atapattu N; Bhatia V; Braegger C; Butler G; Cassinelli H; DiMeglio LA; Frew E; Fu J; Goldberg G; Hypponen E; Idris HW; Khadgawat R; Kiely M; Maddock J; Makitie O; Michigami T; Mughal MZ; Munns CF; Oduwole A; Ozono K; Pettifor JM; Pludowski P; Ramos-Abad L; Savendahl L; Seth A; Shaw N; Specker BL; Thacher TD; Tiosano D; Tulchinsky T; Ward L
Article: CLINICAL AND EXPERIMENTAL RHEUMATOLOGY. 2015;33(6):924-930
Body composition and adipokines in patients with juvenile idiopathic arthritis and systemic glucocorticoids
Markula-Patjas K; Valta H; Pekkinen M; Andersson S; Aalto K; Lahdenne P; Viljakainen H; Makitie O
Article: METABOLISM: CLINICAL AND EXPERIMENTAL. 2015;64(11):1574-1581
Bone marrow fat unsaturation in young adults is not affected by present or childhood obesity, but increases with age: A pilot study
Huovinen V; Viljakainen H; Hakkarainen A; Saukkonen T; Toiviainen-Salo S; Lundbom N; Lundbom J; Makitie O
Article: CALCIFIED TISSUE INTERNATIONAL. 2015;97(4):364-375
Bone Characteristics and Their Determinants in Adolescents and Young Adults with Early-Onset Severe Obesity
Viljakainen HT; Valta H; Lipsanen-Nyman M; Saukkonen T; Kajantie E; Andersson S; Makitie O
Article: JOURNAL OF NUTRITION. 2015;145(9):2084-2091
Early Protein Intake Is Associated with Body Composition and Resting Energy Expenditure in Young Adults Bornwith Very Low Birth Weight
Matinolli H-M; Hovi P; Mannisto S; Sipola-Leppanen M; Eriksson JG; Makitie O; Jarvenpaa A-L; Andersson S; Kajantie E
Article: PEDIATRIC RADIOLOGY. 2015;45(7):1066-1071
Shwachman-Bodian-Diamond syndrome: metaphyseal chondrodysplasia in children with pancreatic insufficiency and neutropenia
Levin TL; Makitie O; Berdon WE; Lachman RS
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2015;100(7):2515-2518
Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused by AP2S1 Mutation
Tenhola S; Hendy GN; Valta H; Canaff L; Lee BSP; Wong BYL; Valimaki MJ; Cole DEC; Makitie O
Article: CALCIFIED TISSUE INTERNATIONAL. 2015;96(6):575-579
Idiopathic Juvenile Osteoporosis: Clinical Experience from a Single Centre and Screening of LRP5 and LRP6 Genes
Franceschi R; Vincenzi M; Camilot M; Antoniazzi F; Freemont AJ; Adams JE; Laine C; Makitie O; Mughal MZ
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2015;30(5):906-912
TSH Elevations as the First Laboratory Evidence for Pseudohypoparathyroidism Type Ib (PHP-Ib)
Molinaro A; Tiosano D; Takatani R; Chrysis D; Russell W; Koscielniak N; Kottler M-L; Agretti P; De Marco G; Ahtiainen P; Christov M; Makitie O; Tonacchera M; Juppner H
Article: JAMA PEDIATRICS. 2015;169(3):e1525
Systematic Growth Monitoring for the Early Detection of Celiac Disease in Children
Saari A; Harju S; Makitie O; Saha M-T; Dunkel L; Sankilampi U
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2015;30(3):510-518
A Novel Splice Mutation in PLS3 Causes X-linked Early Onset Low-Turnover Osteoporosis
Laine CM; Wessman M; Toiviainen-Salo S; Kaunisto MA; Mayranpaa MK; Laine T; Pekkinen M; Kroger H; Valimaki V-V; Valimaki MJ; Lehesjoki A-E; Makitie O
Article: CLINICAL GENETICS. 2015;87(3):273-278
SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED)
Makitie O; Geiberger S; Horemuzova E; Hagenas L; Mostrom E; Nordenskjold M; Grigelioniene G; Nordgren A
Article: JOURNAL OF NEUROSURGERY: PEDIATRICS. 2015;15(3):313-320
Cranial base pathology in pediatric osteogenesis imperfecta patients treated with bisphosphonates
Arponen H; Vuorimies I; Haukka J; Valta H; Waltimo-Siren J; Makitie O
Article: BONE. 2015;71:124-130
FGF23 gene variation and its association with phosphate homeostasis and bone mineral density in Finnish children and adolescents
Pekkinen M; Laine CM; Makitie R; Leinonen E; Lamberg-Allardt C; Viljakainen H; Makitie O
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2015;167(2):271-281
Truncating Mutations in the Last Exon of NOTCH3 Cause Lateral Meningocele Syndrome
Gripp KW; Robbins KM; Sobreira NL; Witmer PD; Bird LM; Avela K; Makitie O; Alves D; Hogue JS; Zackai EH; Doheny KF; Stabley DL; Sol-Church K
Article: PLOS ONE. 2015;10(7):e0131883
Low Copy Number of the AMY1 Locus Is Associated with Early-Onset Female Obesity in Finland
Viljakainen H; Andersson-Assarsson JC; Armenio M; Pekkinen M; Pettersson M; Valta H; Lipsanen-Nyman M; Makitie O; Lindstrand A
Article: HORMONE RESEARCH IN PAEDIATRICS. 2015;84(2):108-115
Increased Body Adiposity and Serum Leptin Concentrations in Very Long-Term Adult Male Survivors of Childhood Acute Lymphoblastic Leukemia
Jahnukainen K; Heikkinen R; Henriksson M; Andersson S; Ivaska KK; Puukko-Viertomies L-R; Makitie O
Article: JOURNAL OF PEDIATRIC ORTHOPAEDICS. 2015;35(1):100-103
Congenital Constriction Band Syndrome With Limb Defects
Koskimies E; Syvanen J; Nietosvaara Y; Makitie O; Pakkasjarvi N
Article: PLOS ONE. 2015;10(9):e0138156
Altered Osteocyte-Specific Protein Expression in Bone after Childhood Solid Organ Transplantation
Pereira RC; Valta H; Tumber N; Salusky IB; Jalanko H; Makitie O; Perry KW
Article: BMC MUSCULOSKELETAL DISORDERS. 2014;15:428
Association between joint hypermobility, scoliosis, and cranial base anomalies in paediatric Osteogenesis imperfecta patients: a retrospective cross-sectional study
Arponen H; Makitie O; Waltimo-Siren J
Article: JOURNAL OF RHEUMATOLOGY. 2014;41(12):2474-2481
High Adiposity and Serum Leptin Accompanied by Altered Bone Turnover Markers in Severe Juvenile Idiopathic Arthritis
Markula-Patjas KP; Ivaska KK; Pekkinen M; Andersson S; Moilanen E; Viljakainen HT; Makitie O
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2014;164(11):2931-2937
Unusually Severe Hypophosphatemic Rickets Caused by a Novel and Complex Re-Arrangement of the PHEX Gene
Pekkarinen T; Lorenz-Depiereux B; Lohman M; Makitie O
Article: MOLECULAR GENETICS & GENOMIC MEDICINE. 2014;2(5):402-411
Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.
Laurell T; Nilsson D; Hofmeister W; Lindstrand A; Ahituv N; Vandermeer J; Amilon A; Annerén G; Arner M; Pettersson M; Jäntti N; Rosberg H-E; Cattini PA; Nordenskjöld A; Mäkitie O; Grigelioniene G; Nordgren A
Article: PEDIATRIC NEPHROLOGY. 2014;29(8):1431-1440
Pediatric solid organ transplantation and osteoporosis: a descriptive study on bone histomorphometric findings
Tamminen IS; Valta H; Jalanko H; Salminen S; Mayranpaa MK; Isaksson H; Kroger H; Makitie O
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2014;164(7):1635-1641
Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course
Grigelioniene G; Geiberger S; Horemuzova E; Mostrom E; Jantti N; Neumeyer L; Astrom E; Nordenskjold M; Nordgren A; Makitie O
Article: JOURNAL OF PEDIATRICS. 2014;164(6):1436-43.e1
Compromised Peak Bone Mass in Patients with Inflammatory Bowel Disease-A Prospective Study
Laakso S; Valta H; Verkasalo M; Toiviainen-Salo S; Makitie O
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2014;99(6):2155-2163
Suppressed Bone Turnover in Obesity: A Link to Energy Metabolism? A Case-Control Study
Viljakainen H; Ivaska KK; Paldanius P; Lipsanen-Nyman M; Saukkonen T; Pietilainen KH; Andersson S; Laitinen K; Makitie O
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2014;29(5):1110-1117
Increased Heterogeneity of Bone Matrix Mineralization in Pediatric Patients Prone to Fractures: A Biopsy Study
Tamminen IS; Misof BM; Roschger P; Mayranpaa MK; Turunen MJ; Isaksson H; Kroger H; Makitie O; Klaushofer K
Article: JOURNAL OF CLINICAL DENSITOMETRY. 2014;17(2):275-280
Fracture Prediction and the Definition of Osteoporosis in Children and Adolescents: The ISCD 2013 Pediatric Official Positions
Bishop N; Arundel P; Clark E; Dimitri P; Farr J; Jones G; Makitie O; Munns CF; Shaw N
Article: BRITISH JOURNAL OF NUTRITION. 2014;111(6):1069-1076
Breast-fed infants and their later cardiovascular health: a prospective study from birth to age 32 years
Pirila S; Taskinen M; Viljakainen H; Makitie O; Kajosaari M; Saarinen-Pihkala UM; Turanlahti M
Article: PLOS ONE. 2014;9(10):e108040
Bone Health and Risk Factors of Cardiovascular Disease - A Cross-Sectional Study in Healthy Young Adults
Pirila S; Taskinen M; Turanlahti M; Kajosaari M; Makitie O; Saarinen-Pihkala UM; Viljakainen H
Article: PLOS ONE. 2014;9(1):e87292
Vitamin D Binding Protein Genotype Is Associated with Serum 25-Hydroxyvitamin D and PTH Concentrations, as Well as Bone Health in Children and Adolescents in Finland
Pekkinen M; Saarnio E; Viljakainen HT; Kokkonen E; Jakobsen J; Cashman K; Makitie O; Lamberg-Allardt C
Article: JOURNAL OF MEDICAL GENETICS. 2014;51(1):45-54
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
Lindstrand A; Grigelioniene G; Nilsson D; Pettersson M; Hofmeister W; Anderlid B-M; Kant SG; Ruivenkamp CAL; Gustavsson P; Valta H; Geiberger S; Topa A; Lagerstedt-Robinson K; Taylan F; Wincent J; Laurell T; Pekkinen M; Nordenskjold M; Makitie O; Nordgren A
Article: AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY. 2013;209(5):443.e1-443.e10
Maternal preeclampsia and bone mineral density of the adult offspring
Miettola S; Hovi P; Andersson S; Strang-Karlsson S; Pouta A; Laivuori H; Jarvenpaa A-L; Eriksson JG; Makitie O; Kajantie E
Article: THE LANCET. 2013;382(9902):1424-1432
Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial
Bishop N; Adami S; Ahmed SF; Anton J; Arundel P; Burren CP; Devogelaer J-P; Hangartner T; Eva H; Lane JM; Lorenc R; Makitie O; Munns CF; Paredes A; Pavlov H; Plotkin H; Raggio CL; Loreto Reyes M; Schoenau E; Semler O; Sillence DO; Steiner RD
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2013;161(10):2554-2558
The Phenotype Range of Achondrogenesis 1A
Grigelioniene G; Geiberger S; Papadogiannakis N; Makitie O; Nishimura G; Nordgren A; Conner P
Article: JOURNAL OF MEDICAL GENETICS. 2013;50(8):521-528
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT
Kvarnung M; Nilsson D; Lindstrand A; Korenke GC; Chiang SCC; Blennow E; Bergmann M; Stodberg T; Makitie O; Anderlid B-M; Bryceson YT; Nordenskjold M; Nordgren A
Article: NEW ENGLAND JOURNAL OF MEDICINE. 2013;368(19):1809-1816
WNT1 Mutations in Early-Onset Osteoporosis and Osteogenesis Imperfecta
Laine CM; Joeng KS; Campeau PM; Kiviranta R; Tarkkonen K; Grover M; Lu JT; Pekkinen M; Wessman M; Heino TJ; Nieminen-Pihala V; Aronen M; Laine T; Kroger H; Cole WG; Lehesjoki A-E; Nevarez L; Krakow D; Curry CJR; Cohn DH; Gibbs RA; Lee BH; Makitie O
Article: JOURNAL OF PEDIATRICS. 2013;162(4):844-849
Hypoplastic Anemia in Cartilage-Hair Hypoplasia-Balancing between Iron Overload and Chelation
Taskinen M; Toiviainen-Salo S; Lohi J; Vuolukka P; Grasbeck M; Makitie O
Article: PREGNANCY HYPERTENSION. 2013;3(2):98
PP083. Maternal pre-eclampsia and bone mineral density of the adult offspring.
Miettola S; Hovi P; Andersson S; Strang-Karlsson S; Pouta A; Laivuori H; Jarvenpaa A-L; Eriksson JG; Makitie O; Kajantie E
Article: HAEMOPHILIA. 2013;19(2):200-205
Hypercalciuria and kidney function in children with haemophilia
Ranta S; Valta H; Viljakainen H; Makitie O; Makipernaa A
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2013;161A(2):261-267
Characteristics and associated anomalies in radial ray deficiencies in FinlandA population-based study
Pakkasjarvi N; Koskimies E; Ritvanen A; Nietosvaara Y; Makitie O
Article: EUROPEAN JOURNAL OF ENDOCRINOLOGY (EJE). 2013;168(2):281-288
Long-term skeletal consequences of childhood acute lymphoblastic leukemia in adult males: a cohort study
Makitie O; Heikkinen R; Toiviainen-Salo S; Henriksson M; Puukko-Viertomies L-R; Jahnukainen K
Article: CLINICAL LYMPHOMA, MYELOMA AND LEUKEMIA. 2013;13(1):73-76
Combating Cancer Predisposition in Association With Idiopathic Immune Deficiency: A Recurrent Nodal and Cutaneous T-Cell Lymphoproliferative Disease in a Patient With Cartilage-Hair Hypoplasia
Taskinen M; Jeskanen L; Karjalainen-Lindsberg M-L; Makitie A; Makitie O; Ranki A
Article: PLOS ONE. 2013;8(5):e63036
Total and Carboxylated Osteocalcin Associate with Insulin Levels in Young Adults Born with Normal or Very Low Birth Weight
Paldanius PM; Ivaska KK; Hovi P; Andersson S; Eriksson JG; Vaananen K; Kajantie E; Makitie O
Article: HORMONE RESEARCH IN PAEDIATRICS. 2013;79(4):227-235
Risk of Metabolic Bone Disease is Increased Both during and after Weaning off Parenteral Nutrition in Pediatric Intestinal Failure
Mutanen A; Makitie O; Pakarinen MP
Article: PLOS ONE. 2013;8(4):e60856
Vitamin D Deficiency in Children with a Chronic Illness-Seasonal and Age-Related Variations in Serum 25-hydroxy Vitamin D Concentrations
Holmlund-Suila E; Koskivirta P; Metso T; Andersson S; Makitie O; Viljakainen HT
Article: BONE. 2013;52(1):347-353
Anti-tumor necrosis factor treatment in cherubism - Clinical, radiological and histological findings in two children
Hero M; Suomalainen A; Hagstrom J; Stoor P; Kontio R; Alapulli H; Arte S; Toiviainen-Salo S; Landenne P; Makitie O
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2012;158A(12):3119-3125
Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation
Linnankivi T; Makitie O; Valanne L; Toiviainen-Salo S
Article: HAEMOPHILIA. 2012;18(6):955-961
Peripheral quantitative computed tomography (pQCT) reveals alterations in the three-dimensional bone structure in children with haemophilia
Ranta S; Viljakainen H; Makipernaa A; Makitie O
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2012;97(11):E2125-E2132
Screening of Turner Syndrome with Novel Auxological Criteria Facilitates Early Diagnosis
Saari A; Sankilampi U; Hannila M-L; Saha M-T; Makitie O; Dunkel L
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2012;97(11):4139-4147
High-Dose Vitamin D Intervention in Infants-Effects on Vitamin D Status, Calcium Homeostasis, and Bone Strength
Holmlund-Suila E; Viljakainen H; Hytinantti T; Lamberg-Allardt C; Andersson S; Makitie O
Article: EUROPEAN JOURNAL OF MEDICAL GENETICS. 2012;55(10):515-519
Rare variations in WNT3A and DKK1 may predispose carriers to primary osteoporosis
Korvala J; Loija M; Makitie O; Sochett E; Juppner H; Schnabel D; Mora S; Cole WG; Ala-Kokko L; Mannikko M
Article: HEAD AND NECK. 2012;34(10):1450-1455
High prevalence of vitamin D insufficiency in patients with head and neck cancer at diagnosis
Orell-Kotikangas H; Schwab U; Osterlund P; Saarilahti K; Makitie O; Makitie AA
Article: CALCIFIED TISSUE INTERNATIONAL. 2012;91(2):121-130
Impaired Bone Health in Inflammatory Bowel Disease: A Case-Control Study in 80 Pediatric Patients
Laakso S; Valta H; Verkasalo M; Toiviainen-Salo S; Viljakainen H; Makitie O
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2012;27(6):1413-1424
Impaired bone health and asymptomatic vertebral compressions in fracture-prone children: A case-control study
Mayranpaa MK; Viljakainen HT; Toiviainen-Salo S; Kallio PE; Makitie O
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2012;158A(6):1252-1261
Primary osteoporosis without features of OI in children and adolescents: Clinical and genetic characteristics
Laine CM; Koltin D; Susic M; Varley TL; Daneman A; Moineddin R; Cole WG; Makitie O; Sochett E
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2012;27(5):1142-1149
Prevalence and natural course of craniocervical junction anomalies during growth in patients with osteogenesis imperfecta
Arponen H; Makitie O; Haukka J; Ranta H; Ekholm M; Mayranpaa MK; Kaitila I; Waltimo-Siren J
Article: BMC MEDICAL GENETICS. 2012;13:26
Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity
Korvala J; Jueppner H; Makitie O; Sochett E; Schnabel D; Mora S; Bartels CF; Warman ML; Deraska D; Cole WG; Hartikka H; Ala-Kokko L; Mannikko M
Article: AMERICAN JOURNAL OF HUMAN GENETICS. 2012;90(3):540-549
Mutations in CTC1, Encoding the CTS Telomere Maintenance Complex Component 1, Cause Cerebroretinal Microangiopathy with Calcifications and Cysts
Polvi A; Linnankivi T; Kivela T; Herva R; Keating JP; Makitie O; Pareyson D; Vainionpaa L; Lahtinen J; Hovatta I; Pihko H; Lehesjoki A-E
Article: JOURNAL OF MEDICAL GENETICS. 2012;49(2):119-125
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
Klopocki E; Lohan S; Doelken SC; Stricker S; Ockeloen CW; Thiele de Aguiar RS; Lezirovitz K; Mingroni Netto RC; Jamsheer A; Shah H; Kurth I; Habenicht R; Warman M; Devriendt K; Kordass U; Hempel M; Rajab A; Maekitie O; Naveed M; Radhakrishna U; Antonarakis SE; Horn D; Mundlos S
Article: CALCIFIED TISSUE INTERNATIONAL. 2012;90(2):90-95
The Effect of Oral Glucose Tolerance Test on Serum Osteocalcin and Bone Turnover Markers in Young Adults
Paldanius PM; Ivaska KK; Hovi P; Andersson S; Vaananen HK; Kajantie E; Makitie O
Article: JOURNAL OF RHEUMATOLOGY. 2012;39(2):365-373
Prevalence of Vertebral Compression Fractures and Associated Factors in Children and Adolescents with Severe Juvenile Idiopathic Arthritis
Markula-Patjas KP; Valta HL; Kerttula LI; Soini IH; Honkanen VEA; Toiviainen-Salo S-M; Makitie OM
Article: JOURNAL OF PEDIATRICS. 2012;160(1):140-146
The Thoracic and Lumbar Spine in Severe Juvenile Idiopathic Arthritis: Magnetic Resonance Imaging Analysis in 50 Children
Toiviainen-Salo S; Markula-Patjas K; Kerttula L; Soini I; Valta H; Makitie O
Article: HORMONE RESEARCH IN PAEDIATRICS. 2012;77(2):115-120
Osteoporosis-Pseudoglioma Syndrome: Three Novel Mutations in the LRP5 Gene and Response to Bisphosphonate Treatment
Tuysuz B; Bursali A; Alp Z; Suyugul N; Laine CM; Makitie O
Article: PLOS ONE. 2012;7(7):e40090
Vitamin D Is a Major Determinant of Bone Mineral Density at School Age
Pekkinen M; Viljakainen H; Saarnio E; Lamberg-Allardt C; Makitie O
Article: HORMONE RESEARCH IN PAEDIATRICS. 2012;77(5):281-290
Breastfeeding and Determinants of Adult Body Composition: A Prospective Study from Birth to Young Adulthood
Pirila S; Saarinen-Pihkala UM; Viljakainen H; Turanlahti M; Kajosaari M; Makitie O; Taskinen M
Article: FERTILITY AND STERILITY. 2011;96(4):837-842
Semen quality and fertility in adult long-term survivors of childhood acute lymphoblastic leukemia
Jahnukainen K; Heikkinen R; Henriksson M; Cooper TG; Puukko-Viertomies L-R; Makitie O
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2011;26(9):2226-2234
Altered Bone Composition in Children With Vertebral Fracture
Tamminen IS; Mayranpaa MK; Turunen MJ; Isaksson H; Makitie O; Jurvelin JS; Kroger H
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2011;19(8):875-881
Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)
Laine CM; Chung BD; Susic M; Prescott T; Semler O; Fiskerstrand T; D'Eufemia P; Castori M; Pekkinen M; Sochett E; Cole WG; Netzer C; Makitie O
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2011;26(8):1748-1758
Bone Biopsy Findings and Correlation With Clinical, Radiological, and Biochemical Parameters in Children With Fractures
Mayranpaa MK; Tamminen IS; Kroger H; Makitie O
Article: INDIAN JOURNAL OF PEDIATRICS. 2011;78(7):877-879
COL1A1 Mutation in an Indian Child with Caffey Disease
Ranganath P; Laine CM; Gupta D; Makitie O; Phadke SR
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2011;155A(6):1322-1328
Cerebroretinal Microangiopathy With Calcifications and Cysts: Characterization of the Skeletal Phenotype
Toiviainen-Salo S; Linnankivi T; Saarinen A; Mayranpaa MK; Karikoski R; Makitie O
Article: BRITISH JOURNAL OF HAEMATOLOGY. 2011;153(3):364-371
Hypercalciuria in children with haemophilia suggests primary skeletal pathology
Ranta S; Viljakainen H; Makipernaa A; Makitie O
Article: PLOS ONE. 2011;6(4):e19068
Infant Milk Feeding Influences Adult Bone Health: A Prospective Study from Birth to 32 Years
Pirila S; Taskinen M; Viljakainen H; Kajosaari M; Turanlahti M; Saarinen-Pihkala UM; Makitie O
Article: PLOS ONE. 2011;6(3):e17700
Resting Energy Expenditure in Young Adults Born Preterm-The Helsinki Study of Very Low Birth Weight Adults
Sipola-Leppanen M; Hovi P; Andersson S; Wehkalampi K; Vaarasmaki M; Strang-Karlsson S; Jarvenpaa A-L; Makitie O; Eriksson JG; Kajantie E
Article: OSTEOPOROSIS INTERNATIONAL. 2011;22(3):883-891
Maternal vitamin D status affects bone growth in early childhood-a prospective cohort study
Viljakainen HT; Korhonen T; Hytinantti T; Laitinen EKA; Andersson S; Makitie O; Lamberg-Allardt C
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2011;155A(3):595-598
Hajdu-Cheney Syndrome With Severe Dural Ectasia
Avela K; Valanne L; Helenius I; Makitie O
Article: BONE. 2011;48(2):212-217
Dual effect of adipose tissue on bone health during growth
Viljakainen HT; Pekkinen M; Saarnio E; Karp H; Lamberg-Allardt C; Makitie O
Article: HORMONE RESEARCH IN PAEDIATRICS. 2011;75(5):346-353
Zoledronic Acid Treatment in Children with Osteogenesis Imperfecta
Vuorimies I; Toiviainen-Salo S; Hero M; Makitie O
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2010;25(12):2752-2759
Decreasing Incidence and Changing Pattern of Childhood Fractures: A Population-Based Study
Mayranpaa MK; Makitie O; Kallio PE
Article: JOURNAL OF ORTHOPAEDIC RESEARCH. 2010;28(11):1497-1501
Early-Onset Metaphyseal Chondrodysplasia Type Schmid Associated with a COL10A1 Frame-Shift Mutation and Impaired Trimerization of Wild-Type α1(X) Protein Chains
Makitie O; Susic M; Cole WG
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2010;25(10):2165-2174
Long-Term Clinical Outcome and Carrier Phenotype in Autosomal Recessive Hypophosphatemia Caused by a Novel DMP1 Mutation
Makitie O; Pereira RC; Kaitila I; Turan S; Bastepe M; Laine T; Kroger H; Cole WG; Jueppner H
Article: JOURNAL OF PEDIATRICS. 2010;157(3):421-427.e1
Reduced Body Size and Shape-Related Symptoms in Young Adults Born Preterm with Very Low Birth Weight: Helsinki Study of Very Low Birth Weight Adults
Wehkalampi K; Hovi P; Strang-Karlsson S; Raikkonen K; Pesonen A-K; Heinonen K; Makitie O; Jarvenpaa A-L; Eriksson JG; Andersson S; Kajantie E
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2010;25(7):1536-1543
Vertebral Morphology in Aromatase Inhibitor-Treated Males with Idiopathic Short Stature or Constitutional Delay of Puberty
Hero M; Toiviainen-Salo S; Wickman S; Makitie O; Dunkel L
Article: CLINICAL ENDOCRINOLOGY. 2010;72(4):481-488
Low density lipoprotein receptor-related protein 5 (LRP5) mutations and osteoporosis, impaired glucose metabolism and hypercholesterolaemia
Saarinen A; Saukkonen T; Kivela T; Lahtinen U; Laine C; Somer M; Toiviainen-Salo S; Cole WG; Lehesjoki A-E; Makitie O
Article: BONE. 2010;46(4):940-945
Low-density lipoprotein receptor-related protein 5 (LRP5) variation in fracture prone children
Saarinen A; Mayranpaa MK; Lehesjoki A-E; Makitie O
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2010;95(4):1749-1757
Maternal Vitamin D Status Determines Bone Variables in the Newborn
Viljakainen HT; Saarnio E; Hytinantti T; Miettinen M; Surcel H; Makitie O; Andersson S; Laitinen K; Lamberg-Allardt C
Article: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY. 2010;52(3):276-282
Low bone mass in patients with motor disability: prevalence and risk factors in 59 Finnish children
Kilpinen-Loisa P; Paasio T; Soiva M; Ritanen UM; Lautala P; Palmu P; Pihko H; Makitie O
Article: DUODECIM; LAAKETIETEELLINEN AIKAKAUSKIRJA. 2010;126(14):1711-1719
[Shwachman-Diamond syndrome--a diagnostic challenge].
Toiviainen-Salo S; Savilahti E; Mäkitie R; Mäkitie O
Article: JOURNAL OF PEDIATRICS. 2009;155(6):807-811.e2
The Natural History of Shwachman-Diamond Syndrome-Associated Liver Disease from Childhood to Adulthood
Toiviainen-Salo S; Durie PR; Numminen K; Heikkila P; Marttinen E; Savilahti E; Makitie O
Article: JOURNAL OF INTELLECTUAL DISABILITY RESEARCH. 2009;53(12):1014-1023
Vitamin D status and optimal supplementation in institutionalized adults with intellectual disability
Kilpinen-Loisa P; Arvio M; Ilvesmaki V; Makitie O
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2009;149A(11):2371-2377
Calvarial Doughnut Lesions and Osteoporosis: A New Three-Generation Family and Review
Jaakkola E; Laine CM; Mayranpaa MK; Falck A; Ignatius J; Makitie O
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2009;94(11):4144-4151
Body Composition and Bone Mineral Density in Children with Premature Adrenarche and the Association of LRP5 Gene Polymorphisms with Bone Mineral Density
Utriainen P; Jaaskelainen J; Saarinen A; Vanninen E; Makitie O; Voutilainen R
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2009;24(10):1699-1708
Bone Health in Children and Adolescents After Renal Transplantation
Valta H; Makitie O; Ronnholm K; Jalanko H
Article: PLOS MEDICINE. 2009;6(8):e1000135
Decreased Bone Mineral Density in Adults Born with Very Low Birth Weight: A Cohort Study
Hovi P; Andersson S; Jarvenpaa A-L; Eriksson JG; Strang-Karlsson S; Kajantie E; Makitie O
Article: ACTA PAEDIATRICA, INTERNATIONAL JOURNAL OF PAEDIATRICS. 2009;98(8):1329-1333
Insufficient energy and nutrient intake in children with motor disability
Kilpinen-Loisa P; Pihko H; Vesander U; Paganus A; Ritanen U; Makitie O
Article: CLINICAL ENDOCRINOLOGY. 2009;70(5):725-731
LRP5 in premature adrenarche and in metabolic characteristics of prepubertal children
Lappalainen S; Saarinen A; Utriainen P; Voutilainen R; Jaaskelainen J; Makitie O
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2009;149A(3):451-455
Genitopatellar Syndrome in an Adolescent Female With Severe Osteoporosis and Endocrine Abnormalities
Penttinen M; Koillinen H; Nlinikoski H; Makitie O; Hietala M
Article: HORMONE RESEARCH IN PAEDIATRICS. 2009;71(5):290-297
Impact of Aromatase Inhibitor Therapy on Bone Turnover, Cortical Bone Growth and Vertebral Morphology in Pre- and Peripubertal Boys with Idiopathic Short Stature
Hero M; Makitie O; Kroger H; Nousiainen E; Toiviainen-Salo S; Dunkel L
Article: ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA. 2009;88(4):428-433
Bone mineral density and sex hormone status in intellectually disabled women on progestin-induced amenorrhea
Arvio M; Kilpinen-Loisa P; Tiitinen A; Huovinen K; Makitie O
Article: PEDIATRIC BLOOD AND CANCER. 2008;51(4):461-467
Myocardial function in patients with Shwachman-Diamond syndrome:: Aspects to consider before stem cell transplantation
Toiviainen-Salo S; Pitkanen O; Holmstrom M; Koikkalainen J; Lotjonen J; Lauerma K; Taskinen M; Savilahti E; Smallhorn J; Makitie O; Kivisto S
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2008;146A(18):2370-2375
Extended follow-up of the Finnish cartilage-hair hypoplasia cohort confirms high incidence of non-Hodgkin lymphoma and basal cell carcinoma
Taskinen M; Ranki A; Pukkala E; Jeskanen L; Kaitila I; Makitie O
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2008;146A(12):1558-1564
Shwachman-Diamond syndrome is associated with structural brain alterations on MRI
Toiviainen-Salo S; Makitie O; Mannerkoski M; Hamalainen J; Valanne L; Autti T
Article: CLINICAL RHEUMATOLOGY. 2008;27(6):809-812
Bisphosphonate treatment in craniofacial fibrous dysplasia -: a case report and review of the literature
Makitie AA; Tornwall J; Makitie O
Article: JOURNAL OF RHEUMATOLOGY. 2008;35(5):920-926
Early-onset osteoarthritis due to otospondylomegaepiphyseal dysplasia in a family with a novel splicing mutation of the COL11A2 gene
Avcin T; Makitie O; Susic M; Miller S; Thorne C; Tenenbaum J; Laxer RM; Cole WG
Article: JOURNAL OF PEDIATRIC SURGERY. 2008;43(4):700-704
Bone health in patients with cloacal exstrophy and persistent cloaca after bladder augmentation
Taskinen S; Rintala R; Makitie O
Article: JOURNAL OF PEDIATRICS. 2008;152(3):434-436
Magnetic resonance Imaging findings of the pancreas in patients with Shwachman-Diamond Syndrome and mutations in the SBDS gene
Toiviainen-Salo S; Raade M; Durie PR; Ip W; Marttinen E; Savilahti E; Makitie O
Article: JOURNAL OF PEDIATRICS. 2008;152(3):422-428
Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis
Toiviainen-Salo S; Kajosaari M; Piilonen A; Makitie O
Article: JOURNAL OF PEDIATRIC UROLOGY. 2008;4(1):40-42
Intestinal bladder augmentation at school age has no adverse effects on growth.
Taskinen S; Mäkitie O; Fagerholm R
Article: HORMONE RESEARCH IN PAEDIATRICS. 2008;69(4):212-220
Metabolic control and growth during exclusive growth hormone treatment in X-linked hypophosphatemic rickets
Makitie O; Toiviainen-Salo S; Marttinen E; Kaitila I; Sochett E; Sipila I
Article: AMERICAN JOURNAL OF TRANSPLANTATION. 2008;8(1):150-157
Impaired bone health in adolescents after liver transplantation
Valta H; Jalanko H; Holmberg C; Helenius I; Makitie O
Article: BONE. 2007;41(6):965-972
Shwachman-Diamond syndrome is associated with low-turnover osteoporosis
Toiviainen-Salo S; Mayranpaa MK; Durie PR; Richards N; Grynpas M; Ellis L; Ikegawa S; Cole WG; Rommens J; Marttinen E; Savilahti E; Makitie O
Article: BJU INTERNATIONAL. 2007;100(4):906-910
Skeletal health after intestinal bladder augmentation:: findings in 54 patients
Taskinen S; Fagerholm R; Makitie O
Article: CLINICAL RHEUMATOLOGY. 2007;26(10):1773-1777
Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease
Bondestam J; Mayranpaa MK; Ikegawa S; Marttinen E; Kroger H; Makitie O
Article: BONE. 2007;41(3):353-359
Bone densitometry in the diagnosis of vertebral fractures in children:: Accuracy of vertebral fracture assessment
Mayranpaa MK; Helenius I; Valta H; Mayranpaa MI; Toiviainen-Salo S; Makitie O
Article: NEUROPEDIATRICS. 2007;38(4):167-172
High-dose vitamin D supplementation in children with cerebral palsy or neuromuscular disorder
Kilpinen-Loisa P; Nenonen H; Pihko H; Makitie O
Article: CANCER. 2007;110(2):442-451
Bone health in children and adolescents after allogeneic stem cell transplantation -: High prevalence of vertebral compression fractures
Taskinen M; Saarinen-Pihkala UM; Hovi L; Vettenranta K; Makitie O
Article: NEW ENGLAND JOURNAL OF MEDICINE. 2007;356(20):2053-2063
Glucose regulation in young adults with very low birth weight
Hovi P; Andersson S; Eriksson JG; Jarvenpaa A-L; Strang-Karlsson S; Makitie O; Kajantie E
Article: HUMAN MOLECULAR GENETICS. 2007;16(10):1201-1215
COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid
Ho MSP; Tsang KY; Lo RLK; Susic M; Makitie O; Chan TWY; Ng VCW; Sillence DO; Boot-Handford RP; Gibson G; Cheung KMC; Cole WG; Cheah KSE; Chan D
Article: JOURNAL OF RHEUMATOLOGY. 2007;34(4):831-836
Bone health and growth in glucocorticoid-treated patients with juvenile idiopathic arthritis
Valta H; Lahdenne P; Jalanko H; Aalto K; Makitie O
Article: BONE. 2007;40(4):1006-1012
The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men
Saarinen A; Valimaki V-V; Valimaki MJ; Loyttyniemi E; Auro K; Uusen P; Kuris M; Lehesjoki A-E; Makitie O
Article: NEUROMUSCULAR DISORDERS. 2007;17(3):231-234
Skeletal dysplasia presenting as a neuromuscular disorder -: report of three children
Bondestam J; Pihko H; Vanhanen S-L; Brander A; Toiviainen-Salo S; Marttinen E; Maekitie G
Article: HORMONE RESEARCH IN PAEDIATRICS. 2007;67(3):117-122
Parathyroid gland dysfunction in 22q11.2 deletion syndrome
Al-Jenaidi F; Makitie O; Grunebaum E; Sochett E
Article: NEUROLOGY. 2006;67(8):1437-1443
Cerebroretinal microangiopathy with calcifications and cysts.
Linnankivi T; Valanne L; Paetau A; Alafuzoff I; Hakumäki JM; Kivelä T; Lönnqvist T; Mäkitie O; Pääkkönen L; Vainionpää L; Vanninen R; Herva R; Pihko H
Article: CLINICAL ENDOCRINOLOGY. 2006;64(5):489-494
Bone health in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED):: findings in 25 adults
Mäkitie O; Sochett EB; Bondestam S; Sipilä I; Perheentupa J
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2006;21(3):380-387
Incidence and predictors of fractures in children after solid organ transplantation:: A 5-year prospective, population-based study
Helenius I; Remes V; Salminen S; Valta H; Mäkitie O; Holmberg C; Palmu P; Tervahartiala P; Sarna S; Helenius M; Peltonen J; Jalanko H
Article: AMERICAN JOURNAL OF TRANSPLANTATION. 2006;6(2):324-330
Scoliosis after solid organ transplantation in children and adolescents
Helenius I; Jalanko H; Remes V; Sairanen H; Salminen S; Holmberg C; Palmu P; Tervahartiala P; Valta H; Sarna S; Helenius M; Mäkitie O; Peltonen J
Article: HUMAN MUTATION. 2005;26(6):557-565
Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3
Cotterill SL; Jackson GC; Leighton MR; Wagener R; Mäkitie O; Cole WG; Briggs MD
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2005;138A(1):35-40
The natural history of severe anemia in cartilage-hair hypoplasia
Williams MS; Ettinger RS; Hermanns P; Lee B; Carlsson G; Taskinen M; Mäkitie O
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2005;137A(3):241-248
Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations -: Findings in 10 patients
Mäkitie O; Susic M; Ward L; Barclay C; Glorieux FH; Cole WG
Article: JOURNAL OF CLINICAL INVESTIGATION. 2005;115(5):1250-1257
A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders
Gensure RC; Mäkitie O; Barclay C; Chan C; DePalma SR; Bastepe M; Abuzahra H; Couper R; Mundlos S; Sillence D; Kokko LA; Seidman JG; Cole WG; Jüppner H
Article: JOURNAL OF BONE AND MINERAL RESEARCH. 2005;20(5):783-789
Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children
Hartikka H; Mäkitie O; Männikkö M; Doria AS; Daneman A; Cole WG; Ala-Kokko L; Sochett EB
Article: JOURNAL OF PEDIATRICS. 2005;146(3):395-401
Radiographic vertebral morphology:: A diagnostic tool in pediatric osteoporosis
Mäkitie O; Doria AS; Henriques F; Cole WG; Compeyrot S; Silverman E; Laxer R; Daneman A; Sochett EB
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2005;13(3):292-301
Mutations in the known genes are not the major cause of MED;: distinctive phenotypic entities among patients with no identified mutations
Jakkula E; Mäkitie O; Czarny-Ratacjzak M; Jackson GC; Damignani R; Susic M; Briggs MD; Cole WG; Ala-Kokko L
Article: ANNALS OF MEDICINE. 2005;37(4):286-294
Osteoporosis in chronically ill children
Sochett EB; Mäkitie O
Article: JOURNAL OF ORTHOPAEDIC RESEARCH. 2004;22(4):759-767
Chondrocyte cell death and intracellular distribution of COMP and type IX collagen in the pseudoachondroplasia growth plate
Hecht JT; Makitie O; Hayes E; Haynes R; Susic M; Montufar-Solis D; Duke PJ; Cole WG
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2004;125A(3):278-284
Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations:: Description of 12 patients
Mäkitie O; Mortier GR; Czarny-Ratajczak M; Wright MJ; Suri M; Rogala P; Freund M; Jackson GC; Jakkula E; Ala-Kokko L; Briggs MD; Cole WG
Article: CLINICAL GENETICS. 2004;65(2):101-112
Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS
Mäkitie O; Ellis L; Durie PR; Morrison JA; Sochett EB; Rommens JM; Cole WG
Article: HORMONE RESEARCH IN PAEDIATRICS. 2004;61(5):252-256
Growth and metabolic control during puberty in girls with X-linked hypophosphataemic rickets.
Sochett E; Doria AS; Henriques F; Kooh SW; Daneman A; Mäkitie O
Article: JOURNAL OF MEDICAL GENETICS. 2004;41(1):52-59
Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia
Jackson GC; Barker FS; Jakkula E; Czarny-Ratajczak M; Mäkitie O; Cole WG; Wright MJ; Smithson SF; Suri M; Rogala P; Mortier GR; Baldock C; Wallace A; Elles R; Ala-Kokko L; Briggs MD
Article: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2003;122A(3):187-192
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene:: Double-layer patella as a reliable sign
Mäkitie O; Savarirayan R; Bonafé L; Robertson S; Susic M; Superti-Furga A; Cole WG
Article: JOURNAL OF MEDICAL GENETICS. 2003;40(10):741-746
Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia
Ridanpää M; Ward LM; Rockas S; Särkioja M; Mäkelä H; Susic M; Glorieux FH; Cole WG; Mäkitie O
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2003;88(8):3591-3597
Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets
Mäkitie O; Doria A; Kooh SW; Cole WG; Daneman A; Sochett E
Article: INVESTIGATIVE OPHTHALMOLOGY AND VISUAL SCIENCE. 2003;44(5):1830-1836
New locus for autosomal dominant high myopia maps to the long arm of chromosome 17
Paluru P; Ronan SM; Heon E; Devoto M; Wildenberg SC; Scavello G; Holleschau A; Mäkitie O; Cole WG; King RA; Young TL
Article: CLINICAL ENDOCRINOLOGY. 2003;58(2):163-168
Prolonged high-dose phosphate treatment:: a risk factor for tertiary hyperparathyroidism in X-linked hypophosphatemic rickets
Mäkitie O; Kooh SW; Sochett E
Article: JOURNAL OF PEDIATRIC SURGERY. 2002;37(11):1585-1588
Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis
Mäkitie O; Heikkinen M; Kaitila I; Rintala R
Article: PEDIATRIC RADIOLOGY. 2002;32(9):684-689
Neonatal, severe primary hyperparathyroidism: a 7-year clinical and radiological follow-up of one patient
Doria AS; Huang C; Makitie O; Thorner P; Kooh SW; Sochett E; Daneman A
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 2002;10(7):439-447
Worldwide mutation spectrum in cartilage-hair hypoplasia:: ancient founder origin of the major 70A→G mutation of the untranslated RMRP
Ridanpää M; Sistonen P; Rockas S; Rimoin DL; Mäkitie O; Kaitila I
Article: JOURNAL OF PEDIATRICS. 2001;138(6):929-931
Hirschsprung disease associated with severe cartilage-hair hypoplasia
Mäkitie O; Kaitila I; Rintala R
Article: ANNALS OF MEDICINE. 2001;33(3):201-205
Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia.
Mäkitie OM; Tapanainen PJ; Dunkel L; Siimes MA
Article: CELL. 2001;104(2):195-203
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia
Ridanpää M; van Eenennaam H; Pelin K; Chadwick R; Johnson C; Yuan B; vanVenrooij W; Pruijn G; Salmela R; Rockas S; Mäkitie O; Kaitila I; de la Chapelle A
Article: ARCHIVES OF DISEASE IN CHILDHOOD. 2001;84(1):65-67
Increased mortality in cartilage-hair hypoplasia
Mäkitie O; Pukkala E; Kaitila I
Article: JOURNAL OF PEDIATRICS. 2000;137(4):487-492
Deficiency of humoral immunity in cartilage-hair hypoplasia
Mäkitie O; Kaitila I; Savilahti E
Article: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2000;85(2):563-568
Anemia in children with cartilage-hair hypoplasia is related to body growth and to the insulin-like growth factor system
Mäkitie O; Juvonen E; Dunkel L; Kaitila I; Siimes MA
Article: DUODECIM; LAAKETIETEELLINEN AIKAKAUSKIRJA. 2000;116(12):1299-1308
[The role of immune deficiency in cartilage-hair hypoplasia].
Mäkitie O; Kaitila I; Pukkala E; Teppo L; Savilahti E
Article: JOURNAL OF PEDIATRICS. 1999;134(3):315-318
Increased incidence of cancer in patients with cartilage-hair hypoplasia
Mäkitie O; Pukkala E; Teppo L; Kaitila I
Article: EUROPEAN JOURNAL OF PEDIATRICS. 1998;157(10):816-820
Susceptibility to infections and in vitro immune functions in cartilage-hair hypoplasia
Mäkitie O; Kaitila I; Savilahti E
Article: JOURNAL OF PEDIATRICS. 1997;130(4):641-646
Growth in diastrophic dysplasia
Makitie O; Kaitila I
Article: EUROPEAN JOURNAL OF HUMAN GENETICS. 1997;5(1):35-42
Uniparental disomy in cartilage-hair hypoplasia
Sulisalo T; Makitie O; Sistonen P; Ridanpaa M; ElRifai W; Ruuskanaen O; delaChapelle A; Kaitila I
Article: JOURNAL OF MEDICAL GENETICS. 1995;32(1):39-43
CARTILAGE-HAIR HYPOPLASIA
MAKITIE O; SULISALO T; DELACHAPELLE A; KAITILA I
Article: EUROPEAN JOURNAL OF PEDIATRICS. 1995;154(1):30-34
DEFECTIVE IN-VITRO COLONY FORMATION OF HEMATOPOIETIC PROGENITORS IN PATIENTS WITH CARTILAGE-HAIR HYPOPLASIA AND HISTORY OF ANEMIA
JUVONEN E; MAKITIE O; MAKIPERNAA A; RUUTU T; KAITILA I; RAJANTIE J
Show more

All other publications

Letter: JOURNAL OF CLINICAL IMMUNOLOGY. 2024;44(5):115
Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia
Vakkilainen S; Ahonen K; Makitie O
Review: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION. 2024;47(2):285-298
Bone fragility and osteoporosis in children and young adults
Formosa MM; Christou MA; Makitie O
Corrigendum: JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM (JCEM). 2023;108(9):e905
Correction to "High-Dose Vitamin D Intervention in Infants-Effects on Vitamin D Status, Calcium Homeostasis, and Bone Strength".
Conference publication: HORMONE RESEARCH IN PAEDIATRICS. 2023;96:321
Progressively impaired prepubertal growth in children with APECED
Saari V; Alanko V; Holopainen E; Makitie O; Laakso S
Review: FRONTIERS IN ENDOCRINOLOGY. 2023;14:1224318
SGMS2 in primary osteoporosis with facial nerve palsy
Pihlstrom S; Richardt S; Maatta K; Pekkinen M; Olkkonen VM; Makitie O; Maekitie RE
Review: CALCIFIED TISSUE INTERNATIONAL. 2022;110(5):546-561
Early-Onset Osteoporosis
Makitie O; Zillikens MC
Letter: TRANSPLANTATION. 2022;106(4):e244-e246
Long-term Outcome of Kidney Transplantation in 6 Patients With Autoimmune Polyendocrinopathy-candidiasis-ectodermal Dystrophy
Laakso S; Kaijansinkko H; Raisanen-Sokolowski A; Jahnukainen T; Kataja J; Makitie O; Helantera I; Jalanko H
Other: BONE REPORTS. 2021;15:101121
Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature
Basalom S; Fiscaletti M; Miranda V; Huber C; Couture G; Drouin R; Monceau E; Wavrant S; Dube J; Makitie O; Cormier-Daire V; Campeau PM
Review: GENES. 2021;12(5):714
SLC26A2-Associated Diastrophic Dysplasia and rMED-Clinical Features in Affected Finnish Children and Review of the Literature
Harkonen H; Loid P; Makitie O
Review: ENDOCRINE CONNECTIONS. 2021;10(5):R160-R174
New gene discoveries in skeletal diseases with short stature
Costantini A; Muurinen MH; Makitie O
Review: FRONTIERS IN ENDOCRINOLOGY. 2021;12:709711
A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders
Formosa MM; Bergen DJM; Gregson CL; Maurizi A; Kampe A; Garcia-Giralt N; Zhou W; Grinberg D; Ovejero Crespo D; Zillikens MC; Williams GR; Bassett JHD; Brandi ML; Sangiorgi L; Balcells S; Hoegler W; Van Hul W; Makitie O
Review: FRONTIERS IN ENDOCRINOLOGY. 2021;12:709815
The "GEnomics of Musculo Skeletal Traits TranslatiOnal NEtwork": Origins, Rationale, Organization, and Prospects
Koromani F; Alonso N; Alves I; Brandi ML; Foessl I; Formosa MM; Morgenstern MF; Karasik D; Kolev M; Makitie O; Ntzani E; Obermayer-Pietsch B; Ohlsson C; Rauner M; Soe K; Soldatovic I; Teti A; Valjevac A; Rivadeneira F
Review: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;38(2):229-247
High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench
Bergen DJM; Maurizi A; Formosa MM; McDonald GLK; El-Gazzar A; Hassan N; Brandi M-L; Riancho JA; Rivadeneira F; Ntzani E; Duncan EL; Gregson CL; Kiel DP; Zillikens MC; Sangiorgi L; Hogler W; Duran I; Makitie O; Van Hul W; Hendrickx G
Review: JOURNAL OF BONE AND MINERAL RESEARCH. 2020;37(9):1623-1641
Early-Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen
Costantini A; Makitie RE; Hartmann MA; Fratzl-Zelman N; Zillikens MC; Kornak U; Soe K; Makitie O
Review: CURRENT ONCOLOGY REPORTS. 2020;23(1):5
Vitamin D in Head and Neck Cancer: a Systematic Review
Makitie A; Tuokkola I; Laurell G; Makitie O; Olsen K; Takes RP; Florek E; Szyfter K; Sier CFM; Ferlito A
Review: SCANDINAVIAN JOURNAL OF IMMUNOLOGY. 2020;92(4):e12913
Immunodeficiency in cartilage-hair hypoplasia: Pathogenesis, clinical course and management
Vakkilainen S; Taskinen M; Makitie O
Corrigendum: JOURNAL OF BIOMEDICAL SCIENCE. 2019;26(1):31
Correction to: Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta.
Kausar M; Siddiqi S; Yaqoob M; Mansoor S; Makitie O; Mir A; Khor CC; Foo JN; Anees M
Review: ORPHANET JOURNAL OF RARE DISEASES. 2019;14(1):58
FGF23 and its role in X-linked hypophosphatemia-related morbidity
Beck-Nielsen SS; Mughal Z; Haffner D; Nilsson O; Levtchenko E; Ariceta G; Collantes CDL; Schnabel D; Jandhyala R; Makitie O
Review: FRONTIERS IN ENDOCRINOLOGY. 2019;10:70
New Insights Into Monogenic Causes of Osteoporosis
Makitie RE; Costantini A; Kampe A; Alm JJ; Makitie O
Letter: PEDIATRIC RESEARCH. 2018;83(1):2-4
Prothrombotic state in young females with severe early-onset obesity
Loid P; Langstrom S; Viljakainen H; Makipernaa A; Heikinheimo M; Makitie O
Letter: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2017;173(12):3132-3135
Novel mutations in the LRP5 gene in patients with Osteoporosis-pseudoglioma syndrome
Pekkinen M; Grigelioniene G; Akin L; Shah K; Karaer K; Kurtoglu S; Ekbote A; Aycan Z; Sagsak E; Danda S; Astrom E; Makitie O
Letter: EUROPEAN JOURNAL OF NUTRITION. 2017;56(6):2209-2210
Reply to Letter to the Editor to Maternal vitamin D status during pregnancy in Europe: the two sides of the story
Hauta-alus HH; Holmlund-Suila EM; Andersson S; Makitie OM; Viljakainen HT
Review: CURRENT OSTEOPOROSIS REPORTS. 2017;15(4):303-310
Recent Discoveries in Monogenic Disorders of Childhood Bone Fragility
Makitie RE; Kampe AJ; Taylan F; Makitie O
Letter: JOURNAL OF CLINICAL IMMUNOLOGY. 2017;37(6):508-510
Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia
Biggs CM; Kostjukovits S; Dobbs K; Laakso S; Klemetti P; Valta H; Taskinen M; Makitie O; Notarangelo LD
Letter: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2017;140(2):612-614.e5
Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia
Kostjukovits S; Klemetti P; Valta H; Martelius T; Notarangelo LD; Seppanen M; Taskinen M; Makitie O
Letter: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2017;173(3):806-808
CRTAP variants in early-onset osteoporosis and recurrent fractures
Costantini A; Vuorimies I; Makitie R; Mayranpaa MK; Becker J; Pekkinen M; Valta H; Netzer C; Kampe A; Taylan F; Jiao H; Makitie O
Letter: JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY. 2017;139(1):375-378
High prevalence of bronchiectasis in patients with cartilage-hair hypoplasia
Kostjukovits S; Klemetti P; Fohr A; Kajosaari M; Valta H; Taskinen M; Toiviainen-Salo S; Makitie O
Review: HORMONE AND METABOLIC RESEARCH. 2016;48(11):745-754
Abnormal Proteoglycan Synthesis Due to Gene Defects Causes Skeletal Diseases with Overlapping Phenotypes
Taylan F; Makitie O
Review: TRENDS IN ENDOCRINOLOGY AND METABOLISM. 2016;27(5):262-281
Osteoporosis and Bone Mass Disorders: From Gene Pathways to Treatments
Rivadeneira F; Makitie O
Review: BONEKEY REP. 2016;5:773
Value of rare low bone mass diseases for osteoporosis genetics.
Costantini A; Mäkitie O
Letter: CLINICAL GENETICS. 2015;87(5):496-498
Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia
Tham E; Nishimura G; Geiberger S; Horemuzova E; Nilsson D; Lindstrand A; Hammarsjo A; Armenio M; Makitie O; Zabel B; Nordgren A; Nordenskjold M; Grigelioniene G
Review: HORMONE RESEARCH IN PAEDIATRICS. 2015;84(6):361-369
New Genetic Forms of Childhood-Onset Primary Osteoporosis
Kampe AJ; Makitie RE; Makitie O
Review: BONE. 2014;60:246-251
Caffey disease: New perspectives on old questions
Nistala H; Makitie O; Jueppner H
Review: NATURE REVIEWS. RHEUMATOLOGY. 2013;9(8):465-475
Causes, mechanisms and management of paediatric osteoporosis
Makitie O
Letter: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2013;161A(6):1491-1494
Recessive MED With Auricular Swelling Due to Compound Heterozygosity Arg279Tpr/Thr512Lys in the SLC26A2 Gene
Syvanen J; Helenius I; Hero M; Makitie O; Ignatius J
Review: DUODECIM; LAAKETIETEELLINEN AIKAKAUSKIRJA. 2013;129(19):1993-2001
[The changing spectrum of childhood fractures].
Mäyränpää M; Mäkitie O; Kallio P
Letter: BONE MARROW TRANSPLANTATION. 2013;48(1):153
Cerebroretinal microangiopathy with calcifications and cysts, Revesz syndrome and aplastic anemia
Linnankivi T; Polvi A; Makitie O; Lehesjoki A-E; Kivela T
Meeting abstract: BONE. 2012;50:S56-S57
Serum osteocalcin is associated with markers of insulin resistance in young adults
Paldanius PM; Ivaska K; Hovi P; Andersson S; Eriksson JG; Vaananen K; Kajantie E; Makitie O
Published conference paper: ANNALS OF THE NEW YORK ACADEMY OF SCIENCES. 2011;1242:40-55
Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome
Dror Y; Donadieu J; Koglmeier J; Dodge J; Toiviainen-Salo S; Makitie O; Kerr E; Zeidler C; Shimamura A; Shah N; Cipolli M; Kuijpers T; Durie P; Rommens J; Siderius L; Liu JM
Letter: AMERICAN JOURNAL OF MEDICAL GENETICS, PART A. 2011;155A(7):1775
Response to "Lateral Meningocele Syndrome and Hajdu-Cheney Syndrome: Different Disorders With Overlapping Phenotypes" by Gripp
Avela K; Makitie O
Meeting abstract: BONE. 2011;48:S263
Increased body adiposity in severe juvenile idiopathic arthritis
Markula-Patjas K; Makitie O
Meeting abstract: BONE. 2011;48:S208
Serum total and carboxylated osteocalcin are associated with changes in markers of glucose tolerance during OGTT in young adults
Paldanius PM; Ivaska KK; Hovi P; Andersson S; Kajantie E; Eriksson JG; Vaananen K; Makitie O
Review: DUODECIM; LAAKETIETEELLINEN AIKAKAUSKIRJA. 2011;127(9):921-929
[New diagnostic criteria for pediatric osteoporosis--spinal compression fractures are an underdiagnosed problem].
Valta H; Mäkitie O
Review: ENDOCRINE DEVELOPMENT. 2011;21:78-84
Molecular defects causing skeletal dysplasias.
Mäkitie O
Review: DUODECIM; LAAKETIETEELLINEN AIKAKAUSKIRJA. 2011;127(3):273-279
[Cartilage-hair hypoplasia--much more than growth problem].
Taskinen M; Mäkitie O
Editorial comment: HORMONE RESEARCH IN PAEDIATRICS. 2011;76(4):292
Bisphosphonates in Pediatrics - More Questions than Answers
Makitie O
Meeting abstract: BONE. 2009;45:S109
Three patients with osteoporosis-pseudoglioma syndrome (OPPG) due to novel splice site mutations in LRP5
Laine CM; Susic M; Prescott TE; Netzer C; Fiskerstrand T; Chung B; Cole WG; Sochett E; Makitie O
Meeting abstract: BONE. 2009;45:S88-S89
Vitamin D status and optimal supplementation in institutionalized adults with intellectual disability
Kilpinen-Loisa P; Arvio M; Ilvesmaki V; Makitie O
Meeting abstract: BONE. 2009;45:S82
The incidence of fractures in Finnish children has decreased by 18% during the last 22 years
Mayranpaa MK; Makitie O; Kallio P
Meeting abstract: BONE. 2009;45:S61
High prevalence of vertebral compression fractures in patients with juvenile idiopathic arthritis
Markula-Patjas K; Toiviainen-Salo S; Kerttula L; Honkanen V; Makitie O
Meeting abstract: BONE. 2008;42:S56
No disease-causing mutations in LRP6 or PTHrP found in 26 patients with juvenile idiopathic osteoporosis
Koltin D; Laine CM; Saarinen A; Susic M; Parker K; Cole WG; Sochett E; Makitie O
Review: JOURNAL OF CLINICAL DENSITOMETRY. 2008;11(1):29-42
Dual-energy X-ray aborptiometry assessment in children and adolescents with diseases that may affect the skeleton:: The 2007 ISCD Pediatric Official Positions
Bishop N; Braillon P; Burnham J; Cimaz R; Davies J; Fewtrell M; Hogler W; Kennedy K; Makitie O; Mughal Z; Shaw N; Vogiatzi M; Ward K; Bianchi ML
Meeting abstract: BONE. 2007;40(6):S82-S83
High prevalence of asymptornatic vertebral fractures in children after orthotopic liver transplantation
Valta H; Jalanko H; Holmberg C; Makitie O
Meeting abstract: BONE. 2007;40(6):S74-S75
Heterozygous LRP5 mutations in children with fractures
Saarinen A; Mayranpaa MK; Lehesjoki AE; Makitie O
Meeting abstract: BONE. 2007;40(6):S55-S56
Low bone mineral density and increased fracture rate in disabled children
Kilpinen-Loisa P; Paasio T; Soiva M; Ritanen U; Lautala P; Pihko H; Makitie O
Meeting abstract: BONE. 2007;40(6):S62-S63
Bone densitometry in the diagnosis of vertebral fractures in children:: Accuracy of instant vertebral assessment
Mayranpaa MK; Helenius I; Valta H; Mayranpaa MI; Toiviainen-Salo S; Makitie O
Meeting abstract: BONE. 2007;40(6):S58
A new autosomal dominant form of early onset primary osteoporosis in a 3-generation Finnish family
Laine CM; Toiviainen-Salo S; Saarinen A; Mayranpaa MK; Makitie O
Corrigendum: EUROPEAN JOURNAL OF HUMAN GENETICS. 2005;13(10):1166
Mutations in the known genes are not the major cause of MED;: distinctive phenotypic entities among patients with no identified mutations (vol 13, pg 292, 2005)
Jakkula E; Mäkitie O; Czarny-Ratajczak M; Jackson GC; Damignani R; Susic M; Briggs MD; Cole WG; Ala-Kokko L
Review: DUODECIM; LAAKETIETEELLINEN AIKAKAUSKIRJA. 2005;121(19):2059-2067
[Acquired osteoporosis in childhood].
Arikoski P; Kröger L; Mäkitie O
Editorial comment: ANNALS OF MEDICINE. 2005;37(4):276-277
Osteoporosis:: From molecular mechanisms to progress in treatment
Mäkitie O; Heikinheimo MK
Editorial comment: DUODECIM; LAAKETIETEELLINEN AIKAKAUSKIRJA. 2003;119(17):1607-1608
[Osteoporosis--a new challenge for pediatricians].
Mäkitie O; Sochett E; Dunkel L
Show more

Employments

Principal Researcher, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2022-
Postdoctoral Researcher, Department of Molecular Medicine and Surgery, Karolinska Institutet, 2024-2026

Articles

All other publications

Employments

News from KI

Events from KI