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Publications

A novel frameshift deletion in PLS3 causing severe primary osteoporosis
Costantini A, Krallis PΝ, Kämpe A, Karavitakis Em, Taylan F, Mäkitie O, et al
Journal of human genetics 2018;63(8):923-926

A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability
Loid P, Mäkitie R, Costantini A, Viljakainen H, Pekkinen M, Mäkitie O
American journal of medical genetics. Part A 2018;176(9):1972-1975

Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation
Costantini A, Tournis S, Kämpe A, Ul Ain N, Taylan F, Doulgeraki A, et al
Calcified tissue international 2018;103(3):353-358

Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7
Costantini A, Wallgren-pettersson C, Mäkitie O
European journal of medical genetics 2018;61(10):612-615

Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility
Costantini A, Skarp S, Kämpe A, Mäkitie Re, Pettersson M, Männikkö M, et al
Frontiers in endocrinology 2018;9():380-

CRTAP variants in early-onset osteoporosis and recurrent fractures
Costantini A, Vuorimies I, Mäkitie R, Mäyränpää Mk, Becker J, Pekkinen M, et al
American journal of medical genetics. Part A 2017;173(3):806-808

High bone mass due to novel LRP5 and AMER1 mutations
Costantini A, Kekäläinen P, Mäkitie Re, Mäkitie O
European journal of medical genetics 2017;60(12):675-679

PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization
Kämpe Aj, Costantini A, Levy-shraga Y, Zeitlin L, Roschger P, Taylan F, et al
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2017;32(12):2394-2404

PLS3 sequencing in childhood-onset primary osteoporosis identifies two novel disease-causing variants
Kämpe Aj, Costantini A, Mäkitie Re, Jäntti N, Valta H, Mäyränpää M, et al
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2017;28(10):3023-3032

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-

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