Alice Costantini

Publikationer
CV
Populärvetenskap och samverkan

Artiklar

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: 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 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: 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: 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;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(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(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 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;11:393
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: 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: 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: 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: 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: 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: 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: 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: 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

Alla övriga publikationer

Review: CURRENT OSTEOPOROSIS REPORTS. 2021;19(5):481-493
The Polygenic and Monogenic Basis of Paediatric Fractures
Ghatan S; Costantini A; Li R; De Bruin C; Appelman-Dijkstra NM; Winter EM; Oei L; Medina-Gomez C
Review: ENDOCRINE CONNECTIONS. 2021;10(5):R160-R174
New gene discoveries in skeletal diseases with short stature
Costantini A; Muurinen MH; Makitie O
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
Thesis / dissertation: 2019
Genetic causes and molecular mechanisms underlying rare metabolic bone diseases
Costantini, Alice
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: 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
Review: BONEKEY REP. 2016;5:773
Value of rare low bone mass diseases for osteoporosis genetics.
Costantini A; Mäkitie O

Anställningar

Forskningsspecialist, Molekylär medicin och kirurgi, Karolinska Institutet, 2024-

Examina och utbildning

Medicine Doktorsexamen, Institutionen för molekylär medicin och kirurgi, Karolinska Institutet, 2019

Artiklar

Alla övriga publikationer

Anställningar

Examina och utbildning

Nyheter från KI

Kalenderhändelser från KI