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Fibroblast Growth Factor 23 Concentrations Reflect Sex Differences in Mineral Metabolism and Growth in Early Infancy
Holmlund-suila E, Viljakainen H, Ljunggren Ö, Hytinantti T, Andersson S, Mäkitie O
Hormone research in paediatrics 2016;85(4):232-41

Functioning and Challenges in Equality and Accessibility Among People with Short Stature
Pesola K, Anttila H, Mäkitie O, Leppäjoki S, Hiekkala S
Studies in health technology and informatics 2016;229():402-4

Global Consensus Recommendations on Prevention and Management of Nutritional Rickets
Munns Cf, Shaw N, Kiely M, Specker Bl, Thacher Td, Ozono K, et al
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, et al
The Journal of clinical endocrinology and metabolism 2016;101(2):394-415

Impaired growth and intracranial calcifications in autosomal dominant hypocalcemia caused by a GNA11 mutation
Tenhola S, Voutilainen R, Reyes M, Toiviainen-salo S, Jüppner H, Mäkitie O
European journal of endocrinology / European Federation of Endocrine Societies 2016;175(3):211-8

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, Mäkitie O, Viljakainen H
Clinical endocrinology 2016;85(3):378-85

Osteoporosis and Bone Mass Disorders: From Gene Pathways to Treatments
Rivadeneira F, Mäkitie O
Trends in endocrinology and metabolism: TEM 2016;27(5):262-81

Skeletal Characteristics of WNT1 Osteoporosis in Children and Young Adults
Mäkitie Re, Haanpää M, Valta H, Pekkinen M, Laine Cm, Lehesjoki Ae, et al
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2016;31(9):1734-42

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum
Taylan F, Costantini A, Coles N, Pekkinen M, Héon E, Şıklar Z, et al
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2016;31(8):1577-85

Value of rare low bone mass diseases for osteoporosis genetics
Costantini A, Mäkitie O
BoneKEy reports 2016;5():773-

Altered Osteocyte-Specific Protein Expression in Bone after Childhood Solid Organ Transplantation
Pereira Rc, Valta H, Tumber N, Salusky Ib, Jalanko H, Mäkitie O, et al
PloS one 2015;10(9):e0138156-

A novel splice mutation in PLS3 causes X-linked early onset low-turnover osteoporosis
Laine Cm, Wessman M, Toiviainen-salo S, Kaunisto Ma, Mäyränpää Mk, Laine T, et al
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2015;30(3):510-8

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia
Tham E, Nishimura G, Geiberger S, Horemuzova E, Nilsson D, Lindstrand A, et al
Clinical genetics 2015;87(5):496-8

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, et al
Clinical and experimental rheumatology 2015;33(6):924-30

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, et al
Calcified tissue international 2015;97(4):364-75

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, et al
Metabolism: clinical and experimental 2015;64(11):1574-81

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 Bs, Wong By, et al
The Journal of clinical endocrinology and metabolism 2015;100(7):2515-8

Congenital constriction band syndrome with limb defects
Koskimies E, Syvänen J, Nietosvaara Y, Mäkitie O, Pakkasjärvi N
Journal of pediatric orthopedics 2015;35(1):100-3

Cranial base pathology in pediatric osteogenesis imperfecta patients treated with bisphosphonates
Arponen H, Vuorimies I, Haukka J, Valta H, Waltimo-sirén J, Mäkitie O
Journal of neurosurgery. Pediatrics 2015;15(3):313-20

Early Protein Intake Is Associated with Body Composition and Resting Energy Expenditure in Young Adults Born with Very Low Birth Weight
Matinolli Hm, Hovi P, Männistö S, Sipola-leppänen M, Eriksson Jg, Mäkitie O, et al
The Journal of nutrition 2015;145(9):2084-91

FGF23 gene variation and its association with phosphate homeostasis and bone mineral density in Finnish children and adolescents
Pekkinen M, Laine Cm, Mäkitie R, Leinonen E, Lamberg-allardt C, Viljakainen H, et al
Bone 2015;71():124-30

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, et al
Calcified tissue international 2015;96(6):575-9

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 Lr, et al
Hormone research in paediatrics 2015;84(2):108-15

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, et al
PloS one 2015;10(7):e0131883-

New Genetic Forms of Childhood-Onset Primary Osteoporosis
Kämpe Aj, Mäkitie Re, Mäkitie O
Hormone research in paediatrics 2015;84(6):361-9

Shwachman-Bodian-Diamond syndrome: metaphyseal chondrodysplasia in children with pancreatic insufficiency and neutropenia
Levin Tl, Mäkitie O, Berdon We, Lachman Rs
Pediatric radiology 2015;45(7):1066-71

SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED)
Mäkitie O, Geiberger S, Horemuzova E, Hagenäs L, Moström E, Nordenskjöld M, et al
Clinical genetics 2015;87(3):273-8

Systematic growth monitoring for the early detection of celiac disease in children
Saari A, Harju S, Mäkitie O, Saha Mt, Dunkel L, Sankilampi U
JAMA pediatrics 2015;169(3):e1525-

Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome
Gripp Kw, Robbins Km, Sobreira Nl, Witmer Pd, Bird Lm, Avela K, et al
American journal of medical genetics. Part A 2015;167A(2):271-81

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, et al
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2015;30(5):906-12

Association between joint hypermobility, scoliosis, and cranial base anomalies in paediatric Osteogenesis imperfecta patients: a retrospective cross-sectional study
Arponen H, Mäkitie O, Waltimo-sirén J
BMC musculoskeletal disorders 2014;15():428-

Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course
Grigelioniene G, Geiberger S, Horemuzova E, Moström E, Jäntti N, Neumeyer L, et al
American journal of medical genetics. Part A 2014;164A(7):1635-41

Bone health and risk factors of cardiovascular disease--a cross-sectional study in healthy young adults
Pirilä S, Taskinen M, Turanlahti M, Kajosaari M, Mäkitie O, Saarinen-pihkala Um, et al
PloS one 2014;9(10):e108040-

Breast-fed infants and their later cardiovascular health: a prospective study from birth to age 32 years
Pirilä S, Taskinen M, Viljakainen H, Mäkitie O, Kajosaari M, Saarinen-pihkala Um, et al
The British journal of nutrition 2014;111(6):1069-76

Caffey disease: New perspectives on old questions
Nistala H, Makitie O, Juppner H
BONE 2014;:246-51

Compromised peak bone mass in patients with inflammatory bowel disease--a prospective study
Laakso S, Valta H, Verkasalo M, Toiviainen-salo S, Mäkitie O
The Journal of pediatrics 2014;164(6):1436-43.e1

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes
Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid Bm, et al
JOURNAL OF MEDICAL GENETICS 2014;51(1):45-54

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, et al
JOURNAL OF CLINICAL DENSITOMETRY 2014;17(2):275-80

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, et al
The Journal of rheumatology 2014;41(12):2474-81

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, et al
Molecular genetics & genomic medicine 2014;2(5):402-11

Increased heterogeneity of bone matrix mineralization in pediatric patients prone to fractures: a biopsy study
Tamminen Is, Misof Bm, Roschger P, Mäyränpää Mk, Turunen Mj, Isaksson H, et al
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2014;29(5):1110-7

Pediatric solid organ transplantation and osteoporosis: a descriptive study on bone histomorphometric findings
Tamminen Is, Valta H, Jalanko H, Salminen S, Mäyränpää Mk, Isaksson H, et al
Pediatric nephrology (Berlin, Germany) 2014;29(8):1431-40

Suppressed bone turnover in obesity: a link to energy metabolism? A case-control study
Viljakainen H, Ivaska Kk, Paldánius P, Lipsanen-nyman M, Saukkonen T, Pietiläinen Kh, et al
The Journal of clinical endocrinology and metabolism 2014;99(6):2155-63

Unusually severe hypophosphatemic rickets caused by a novel and complex re-arrangement of the PHEX gene
Pekkarinen T, Lorenz-depiereux B, Lohman M, Mäkitie O
American journal of medical genetics. Part A 2014;164A(11):2931-7

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, et al
PloS one 2014;9(1):e87292-

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 Sc, Blennow E, et al
Journal of medical genetics 2013;50(8):521-8

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, et al
BONE 2013;52(1):347-53

Causes, mechanisms and management of paediatric osteoporosis
Makitie O
NATURE REVIEWS RHEUMATOLOGY 2013;9(8):465-75

Cerebroretinal microangiopathy with calcifications and cysts, Revesz syndrome and aplastic anemia
Linnankivi T, Polvi A, Makitie O, Lehesjoki Ae, Kivela T
BONE MARROW TRANSPLANTATION 2013;48(1):153-

Characteristics and associated anomalies in radial ray deficiencies in FinlandA population-based study
Pakkasjarvi N, Koskimies E, Ritvanen A, Nietosvaara Y, Makitie O
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2013;161A(2):261-7

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 Ml, Makitie A, Makitie O, Ranki A
CLINICAL LYMPHOMA MYELOMA & LEUKEMIA 2013;13(1):73-6

Hypercalciuria and kidney function in children with haemophilia
Ranta S, Valta H, Viljakainen H, Mäkitie O, Mäkipernaa A
Haemophilia : the official journal of the World Federation of Hemophilia 2013;19(2):200-5

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
JOURNAL OF PEDIATRICS 2013;162(4):844-9

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 Lr, Jahnukainen K
EUROPEAN JOURNAL OF ENDOCRINOLOGY 2013;168(2):281-8

Maternal preeclampsia and bone mineral density of the adult offspring
Miettola S, Hovi P, Andersson S, Strang-karlsson S, Pouta A, Laivuori H, et al
AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY 2013;209(5):443.e1-443.e10

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, et al
Pregnancy hypertension 2013;3(2):98-

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
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2013;161A(6):1491-4

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, et al
LANCET 2013;382(9902):1424-32

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
HORMONE RESEARCH IN PAEDIATRICS 2013;79(4):227-35

[The changing spectrum of childhood fractures]
Mäyränpää M, Mäkitie O, Kallio P
Duodecim; laaketieteellinen aikakauskirja 2013;129(19):1993-2001

The phenotype range of achondrogenesis 1A
Grigelioniene G, Geiberger S, Papadogiannakis N, Mäkitie O, Nishimura G, Nordgren A, et al
American journal of medical genetics. Part A 2013;161A(10):2554-8

Total and carboxylated osteocalcin associate with insulin levels in young adults born with normal or very low birth weight
Paldánius Pm, Ivaska Kk, Hovi P, Andersson S, Eriksson Jg, Väänänen K, et al
PloS one 2013;8(5):e63036-

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, Mäkitie O, Viljakainen Ht
PloS one 2013;8(4):e60856-

WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta
Laine Cm, Joeng Ks, Campeau Pm, Kiviranta R, Tarkkonen K, Grover M, et al
The New England journal of medicine 2013;368(19):1809-16

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, et al
HORMONE RESEARCH IN PAEDIATRICS 2012;77(5):281-90

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, De Aguiar Rst, et al
JOURNAL OF MEDICAL GENETICS 2012;49(2):119-25

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
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 2012;97(11):4139-47

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
HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK 2012;34(10):1450-5

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
JOURNAL OF BONE AND MINERAL RESEARCH 2012;27(6):1413-24

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
CALCIFIED TISSUE INTERNATIONAL 2012;91(2):121-30

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, et al
AMERICAN JOURNAL OF HUMAN GENETICS 2012;90(3):540-9

Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity
Korvala J, Juppner H, Makitie O, Sochett E, Schnabel D, Mora S, et al
BMC MEDICAL GENETICS 2012;:26-

Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation
Linnankivi T, Makitie O, Valanne L, Toiviainen-salo S
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2012;158A(12):3119-25

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
HORMONE RESEARCH IN PAEDIATRICS 2012;77(2):115-20

Peripheral quantitative computed tomography (pQCT) reveals alterations in the three-dimensional bone structure in children with haemophilia
Ranta S, Viljakainen H, Mäkipernaa A, Mäkitie O
Haemophilia : the official journal of the World Federation of Hemophilia 2012;18(6):955-61

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, et al
JOURNAL OF BONE AND MINERAL RESEARCH 2012;27(5):1142-9

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 Sm, et al
JOURNAL OF RHEUMATOLOGY 2012;39(2):365-73

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, et al
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2012;158A(6):1252-61

Rare variations in WNT3A and DKK1 may predispose carriers to primary osteoporosis
Korvala J, Loija M, Makitie O, Sochett E, Juppner H, Schnabel D, et al
EUROPEAN JOURNAL OF MEDICAL GENETICS 2012;55(10):515-9

Screening of Turner Syndrome with Novel Auxological Criteria Facilitates Early Diagnosis
Saari A, Sankilampi U, Hannila Ml, Saha Mt, Makitie O, Dunkel L
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 2012;97(11):E2125-32

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, et al
CALCIFIED TISSUE INTERNATIONAL 2012;90(2):90-5

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
JOURNAL OF PEDIATRICS 2012;160(1):140-6

Vitamin D Is a Major Determinant of Bone Mineral Density at School Age
Pekkinen M, Viljakainen H, Saarnio E, Lamberg-allardt C, Makitie O
PLOS ONE 2012;7(7):e40090-

Altered Bone Composition in Children With Vertebral Fracture
Tamminen Is, Mayranpaa Mk, Turunen Mj, Isaksson H, Makitie O, Jurvelin Js, et al
JOURNAL OF BONE AND MINERAL RESEARCH 2011;26(9):2226-34

Bone Biopsy Findings and Correlation With Clinical, Radiological, and Biochemical Parameters in Children With Fractures
Mayranpaa Mk, Tamminen Is, Kroger H, Makitie O
JOURNAL OF BONE AND MINERAL RESEARCH 2011;26(8):1748-58

[Cartilage-hair hypoplasia--much more than growth problem]
Taskinen M, Mäkitie O
Duodecim; laaketieteellinen aikakauskirja 2011;127(3):273-9

Cerebroretinal Microangiopathy With Calcifications and Cysts: Characterization of the Skeletal Phenotype
Toiviainen-salo S, Linnankivi T, Saarinen A, Mayranpaa Mk, Karikoski R, Makitie O
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2011;155A(6):1322-8

COL1A1 Mutation in an Indian Child with Caffey Disease
Ranganath P, Laine Cm, Gupta D, Makitie O, Phadke Sr
INDIAN JOURNAL OF PEDIATRICS 2011;78(7):877-9

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome
Dror Y, Donadieu J, Koglmeier J, Dodge J, Toiviainen-salo S, Makitie O, et al
ANNALS MEETING REPORTS 2011;:40-55

Dual effect of adipose tissue on bone health during growth
Viljakainen Ht, Pekkinen M, Saarnio E, Karp H, Lamberg-allardt C, Makitie O
BONE 2011;48(2):212-7

Hajdu-Cheney Syndrome With Severe Dural Ectasia
Avela K, Valanne L, Helenius I, Makitie O
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2011;155A(3):595-8

Hypercalciuria in children with haemophilia suggests primary skeletal pathology
Ranta S, Viljakainen H, Mäkipernaa A, Mäkitie O
British journal of haematology 2011;153(3):364-71

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, et al
PLOS ONE 2011;6(4):e19068-

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, et al
OSTEOPOROSIS INTERNATIONAL 2011;22(3):883-91

Molecular defects causing skeletal dysplasias
Mäkitie O
Endocrine development 2011;21():78-84

[New diagnostic criteria for pediatric osteoporosis--spinal compression fractures are an underdiagnosed problem]
Valta H, Mäkitie O
Duodecim; laaketieteellinen aikakauskirja 2011;127(9):921-9

Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG)
Laine Cm, Chung Bd, Susic M, Prescott T, Semler O, Fiskerstrand T, et al
EUROPEAN JOURNAL OF HUMAN GENETICS 2011;19(8):875-81

Response to "Lateral Meningocele Syndrome and Hajdu-Cheney Syndrome: Different Disorders With Overlapping Phenotypes" by Gripp
Avela K, Makitie O
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2011;155A(7):1775-1775

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, et al
PLOS ONE 2011;6(3):e17700-

Semen quality and fertility in adult long-term survivors of childhood acute lymphoblastic leukemia
Jahnukainen K, Heikkinen R, Henriksson M, Cooper Tg, Puukko-viertomies Lr, Mäkitie O
Fertility and sterility 2011;96(4):837-42

Zoledronic Acid Treatment in Children with Osteogenesis Imperfecta
Vuorimies I, Toiviainen-salo S, Hero M, Makitie O
HORMONE RESEARCH IN PAEDIATRICS 2011;75(5):346-53

Decreasing Incidence and Changing Pattern of Childhood Fractures: A Population-Based Study
Mayranpaa Mk, Makitie O, Kallio Pe
JOURNAL OF BONE AND MINERAL RESEARCH 2010;25(12):2752-9

Early-Onset Metaphyseal Chondrodysplasia Type Schmid Associated with a COL10A1 Frame-Shift Mutation and Impaired Trimerization of Wild-Type alpha 1(X) Protein Chains
Makitie O, Susic M, Cole Wg
JOURNAL OF ORTHOPAEDIC RESEARCH 2010;28(11):1497-501

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, et al
JOURNAL OF BONE AND MINERAL RESEARCH 2010;25(10):2165-74

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, et al
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY 2010;52(3):276-82

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, et al
CLINICAL ENDOCRINOLOGY 2010;72(4):481-8

Low-density lipoprotein receptor-related protein 5 (LRP5) variation in fracture prone children
Saarinen A, Mayranpaa Mk, Lehesjoki Ae, Makitie O
BONE 2010;46(4):940-5

Maternal Vitamin D Status Determines Bone Variables in the Newborn
Viljakainen Ht, Saarnio E, Hytinantti T, Miettinen M, Surcel H, Makitie O, et al
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 2010;95(4):1749-57

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 Ak, Heinonen K, et al
JOURNAL OF PEDIATRICS 2010;157(3):421-7

[Shwachman-Diamond syndrome--a diagnostic challenge]
Toiviainen-salo S, Savilahti E, Mäkitie R, Mäkitie O
Duodecim; laaketieteellinen aikakauskirja 2010;126(14):1711-9

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
JOURNAL OF BONE AND MINERAL RESEARCH 2010;25(7):1536-43

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
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 2009;94(11):4144-51

Bone Health in Children and Adolescents After Renal Transplantation
Valta H, Makitie O, Ronnholm K, Jalanko H
JOURNAL OF BONE AND MINERAL RESEARCH 2009;24(10):1699-708

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
ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA 2009;88(4):428-33

Calvarial Doughnut Lesions and Osteoporosis: A New Three-Generation Family and Review
Jaakkola E, Laine Cm, Mayranpaa Mk, Falck A, Ignatius J, Makitie O
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2009;149A(11):2371-7

Decreased Bone Mineral Density in Adults Born with Very Low Birth Weight: A Cohort Study
Hovi P, Andersson S, Jarvenpaa Al, Eriksson Jg, Strang-karlsson S, Kajantie E, et al
PLOS MEDICINE 2009;6(8):e1000135-

Genitopatellar Syndrome in an Adolescent Female With Severe Osteoporosis and Endocrine Abnormalities
Penttinen M, Koillinen H, Nlinikoski H, Makitie O, Hietala M
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2009;149A(3):451-5

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
HORMONE RESEARCH 2009;71(5):290-7

Insufficient energy and nutrient intake in children with motor disability
Kilpinen-loisa P, Pihko H, Vesander U, Paganus A, Ritanen U, Makitie O
ACTA PAEDIATRICA 2009;98(8):1329-33

LRP5 in premature adrenarche and in metabolic characteristics of prepubertal children
Lappalainen S, Saarinen A, Utriainen P, Voutilainen R, Jaaskelainen J, Makitie O
CLINICAL ENDOCRINOLOGY 2009;70(5):725-31

The natural history of Shwachman-Diamond syndrome-associated liver disease from childhood to adulthood
Toiviainen-salo S, Durie Pr, Numminen K, Heikkilä P, Marttinen E, Savilahti E, et al
The Journal of pediatrics 2009;155(6):807-811.e2

Vitamin D status and optimal supplementation in institutionalized adults with intellectual disability
Kilpinen-loisa P, Arvio M, Ilvesmaki V, Makitie O
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH 2009;:1014-23

Bisphosphonate treatment in craniofacial fibrous dysplasia - a case report and review of the literature
Makitie Aa, Tornwall J, Makitie O
CLINICAL RHEUMATOLOGY 2008;27(6):809-12

Bone health in patients with cloacal exstrophy and persistent cloaca after bladder augmentation
Taskinen S, Rintala R, Makitie O
JOURNAL OF PEDIATRIC SURGERY 2008;43(4):700-4

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, et al
JOURNAL OF CLINICAL DENSITOMETRY 2008;11(1):29-42

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, et al
JOURNAL OF RHEUMATOLOGY 2008;35(5):920-6

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
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2008;146A(18):2370-5

Impaired bone health in adolescents after liver transplantation
Valta H, Jalanko H, Holmberg C, Helenius I, Makitie O
AMERICAN JOURNAL OF TRANSPLANTATION 2008;8(1):150-7

Intestinal bladder augmentation at school age has no adverse effects on growth
Taskinen S, Mäkitie O, Fagerholm R
Journal of pediatric urology 2008;4(1):40-2

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, et al
JOURNAL OF PEDIATRICS 2008;152(3):434-6

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
HORMONE RESEARCH 2008;69(4):212-20

Patients with cartilage-hair hypoplasia have an increased risk for bronchiectasis
Toiviainen-salo S, Kajosaari M, Piilonen A, Makitie O
JOURNAL OF PEDIATRICS 2008;152(3):422-8

Shwachman-Diamond syndrome is associated with structural brain alterations on MRI
Toiviainen-salo S, Makitie O, Mannerkoski M, Hamalainen J, Valanne L, Autti T
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2008;146A(12):1558-64

Bone biopsy and densitometry findings in a child with Camurati-Engelmann disease
Bondestam J, Mayranpaa Mk, Ikegawa S, Marttinen E, Kroger H, Makitie O
CLINICAL RHEUMATOLOGY 2007;26(10):1773-7

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
BONE 2007;41(3):353-9

Bone health and growth in glucocorticoid-treated patients with juvenile idiopathic arthritis
Valta H, Lahdenne P, Jalanko H, Aalto K, Makitie O
JOURNAL OF RHEUMATOLOGY 2007;34(4):831-6

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
CANCER 2007;110(2):442-51

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, et al
HUMAN MOLECULAR GENETICS 2007;16(10):1201-15

Glucose regulation in young adults with very low birth weight
Hovi P, Andersson S, Eriksson Jg, Jarvenpaa A, Strang-karlsson S, Makitie O, et al
NEW ENGLAND JOURNAL OF MEDICINE 2007;356(20):2053-63

High-dose vitamin D supplementation in children with cerebral palsy or neuromuscular disorder
Kilpinen-loisa P, Nenonen H, Pihko H, Makitie O
NEUROPEDIATRICS 2007;38(4):167-72

Parathyroid gland dysfunction in 22q11.2 deletion syndrome
Al-jenaidi F, Makitie O, Grunebaum E, Sochett E
HORMONE RESEARCH 2007;67(3):117-22

Shwachman-Diamond syndrome is associated with low-turnover osteoporosis
Toiviainen-salo S, Mayranpaa Mk, Durie Pr, Richards N, Grynpas M, Ellis L, et al
BONE 2007;41(6):965-72

Skeletal dysplasia presenting as a neuromuscular disorder - report of three children
Bondestam J, Pihko H, Vanhanen Sl, Brander A, Toiviainen-salo S, Marttinen E, et al
Neuromuscular disorders : NMD 2007;17(3):231-4

Skeletal health after intestinal bladder augmentation: findings in 54 patients
Taskinen S, Fagerholm R, Makitie O
BJU INTERNATIONAL 2007;100(4):906-10

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 Vv, Valimaki Mj, Loyttyniemi E, Auro K, Uusen P, et al
BONE 2007;40(4):1006-12

Bone health in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED): findings in 25 adults
Makitie O, Sochett Eb, Bondestam S, Sipila I, Perheentupa J
CLINICAL ENDOCRINOLOGY 2006;64(5):489-94

Cerebroretinal microangiopathy with calcifications and cysts
Linnankivi T, Valanne L, Paetau A, Alafuzoff I, Hakumäki Jm, Kivelä T, et al
Neurology 2006;67(8):1437-43

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, Makitie O, Holmberg C, et al
JOURNAL OF BONE AND MINERAL RESEARCH 2006;21(3):380-7

Scoliosis after solid organ transplantation in children and adolescents
Helenius I, Jalanko H, Remes V, Sairanen H, Salminen S, Holmberg C, et al
AMERICAN JOURNAL OF TRANSPLANTATION 2006;6(2):324-30

[Acquired osteoporosis in childhood]
Arikoski P, Kröger L, Mäkitie O
Duodecim; laaketieteellinen aikakauskirja 2005;121(19):2059-67

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders
Gensure Rc, Makitie O, Barclay C, Chan C, Depalma Sr, Bastepe M, et al
JOURNAL OF CLINICAL INVESTIGATION 2005;115(5):1250-7

Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children
Hartikka H, Makitie O, Mannikko M, Doria As, Daneman A, Cole Wg, et al
JOURNAL OF BONE AND MINERAL RESEARCH 2005;20(5):783-9

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, Makitie O, Cole Wg, et al
HUMAN MUTATION 2005;26(6):557-65

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations
Jakkula E, Makitie O, Czarny-ratacjzak M, Jackson Gc, Damignani R, Susic M, et al
EUROPEAN JOURNAL OF HUMAN GENETICS 2005;13(3):292-301

Osteoporosis in chronically ill children
Sochett Eb, Makitie O
ANNALS OF MEDICINE 2005;37(4):286-94

Radiographic vertebral morphology: A diagnostic tool in pediatric osteoporosis
Makitie O, Doria As, Henriques F, Cole Wg, Compeyrot S, Silverman E, et al
JOURNAL OF PEDIATRICS 2005;146(3):395-401

Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations - Findings in 10 patients
Makitie O, Susic M, Ward L, Barclay C, Glorieux Fh, Cole Wg
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2005;137A(3):241-8

The natural history of severe anemia in cartilage-hair hypoplasia
Williams Ms, Ettinger Rs, Hermanns P, Lee B, Carlsson G, Taskinen M, et al
American journal of medical genetics. Part A 2005;138(1):35-40

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, et al
JOURNAL OF ORTHOPAEDIC RESEARCH 2004;22(4):759-67

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: Description of 12 patients
Makitie O, Mortier Gr, Czarny-ratajczak M, Wright Mj, Suri M, Rogala P, et al
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2004;125A(3):278-84

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
Hormone research 2004;61(5):252-6

Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia
Jackson Gc, Barker Fs, Jakkula E, Czarny-ratajczak M, Makitie O, Cole Wg, et al
JOURNAL OF MEDICAL GENETICS 2004;41(1):52-9

Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS
Makitie O, Ellis L, Durie Pr, Morrison Ja, Sochett Eb, Rommens Jm, et al
CLINICAL GENETICS 2004;65(2):101-12

Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: Double-layer patella as a reliable sign
Makitie O, Savarirayan R, Bonafe L, Robertson S, Susic M, Superti-furga A, et al
AMERICAN JOURNAL OF MEDICAL GENETICS PART A 2003;122A(3):187-92

Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets
Makitie O, Doria A, Kooh Sw, Cole Wg, Daneman A, Sochett E
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 2003;88(8):3591-7

Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia
Ridanpaa M, Ward Lm, Rockas S, Sarkioja M, Makela H, Susic M, et al
JOURNAL OF MEDICAL GENETICS 2003;40(10):741-6

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, et al
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE 2003;44(5):1830-6

Prolonged high-dose phosphate treatment: a risk factor for tertiary hyperparathyroidism in X-linked hypophosphatemic rickets
Makitie O, Kooh Sw, Sochett E
CLINICAL ENDOCRINOLOGY 2003;58(2):163-8

Hirschsprung's disease in cartilage-hair hypoplasia has poor prognosis
Makitie O, Heikkinen M, Kaitila I, Rintala R
JOURNAL OF PEDIATRIC SURGERY 2002;37(11):1585-8

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, et al
PEDIATRIC RADIOLOGY 2002;32(9):684-9

Worldwide mutation spectrum in cartilage-hair hypoplasia: ancient founder origin of the major 70A -> G mutation of the untranslated RMRP
Ridanpaa M, Sistonen P, Rockas S, Rimoin Dl, Makitie O, Kaitila I
EUROPEAN JOURNAL OF HUMAN GENETICS 2002;10(7):439-47

Hirschsprung disease associated with severe cartilage-hair hypoplasia
Makitie O, Kaitila I, Rintala R
JOURNAL OF PEDIATRICS 2001;138(6):929-31

Impaired spermatogenesis: an unrecognized feature of cartilage-hair hypoplasia
Makitie Om, Tapanainen Pj, Dunkel L, Siimes Ma
ANNALS OF MEDICINE 2001;33(3):201-5

Increased mortality in cartilage-hair hypoplasia
Makitie O, Pukkala E, Kaitila I
ARCHIVES OF DISEASE IN CHILDHOOD 2001;84(1):65-67

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia
Ridanpaa M, Van Eenennaam H, Pelin K, Chadwick R, Johnson C, Yuan B, et al
CELL 2001;104(2):195-203

Anemia in children with cartilage-hair hypoplasia is related to body growth and to the insulin-like growth factor system
Makitie O, Juvonen E, Dunkel L, Kaitila I, Siimes Ma
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM 2000;85(2):563-8

Deficiency of humoral immunity in cartilage-hair hypoplasia
Makitie O, Kaitila I, Savilahti E
JOURNAL OF PEDIATRICS 2000;137(4):487-92

[The role of immune deficiency in cartilage-hair hypoplasia]
Mäkitie O, Kaitila I, Pukkala E, Teppo L, Savilahti E
Duodecim; laaketieteellinen aikakauskirja 2000;116(12):1299-305

Increased incidence of cancer in patients with cartilage-hair hypoplasia
Makitie O, Pukkala E, Teppo L, Kaitila I
JOURNAL OF PEDIATRICS 1999;134(3):315-8

Susceptibility to infections and in vitro immune functions in cartilage-hair hypoplasia
Makitie O, Kaitila I, Savilahti E
EUROPEAN JOURNAL OF PEDIATRICS 1998;157(10):816-20

Growth in diastrophic dysplasia
Makitie O, Kaitila I
JOURNAL OF PEDIATRICS 1997;130(4):641-6

Uniparental disomy in cartilage-hair hypoplasia
Sulisalo T, Makitie O, Sistonen P, Ridanpaa M, Elrifai W, Ruuskanaen O, et al
EUROPEAN JOURNAL OF HUMAN GENETICS 1997;5(1):35-42

CARTILAGE-HAIR HYPOPLASIA
Makitie O, Sulisalo T, Delachapelle A, Kaitila I
JOURNAL OF MEDICAL GENETICS 1995;32(1):39-43

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
EUROPEAN JOURNAL OF PEDIATRICS 1995;154(1):30-4

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