Associated Papers
Evaluating variants of uncertain significance in adult zebrafish via prime editing: a proof of concept with a COL1A2 variant.
Vanhooydonck M et al.
Bmc Medical Genomics, 2025
Dissecting the phenotypic variability of osteogenesis imperfecta.
Garibaldi N et al.
Disease Models & Mechanisms, 2022
Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies.
Gistelinck C et al.
Proceedings of the National Academy of Sciences of the United States of America, 2018
Skeletal phenotypes in adult patients with osteogenesis imperfecta-correlations with COL1A1/COL1A2 genotype and collagen structure.
Hald JD 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, 2016
[Osteogenesis imperfecta, diagnosis information (clinical and genetic classification)].
Baujat G et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2008
High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta.
Cabral WA et al.
American Journal of Human Genetics, 2004
Prenatal diagnosis of a novel COL1A1 mutation in osteogenesis imperfecta type I carried through full term pregnancy.
Ries L et al.
Prenatal Diagnosis, 2000
Two pregnancies after preimplantation genetic diagnosis for osteogenesis imperfecta type I and type IV.
De Vos A et al.
Human Genetics, 2000
Bone mineral content and collagen defects in osteogenesis imperfecta.
Lund AM et al.
Acta Paediatrica (oslo, Norway : 1992), 1999
Anthropometry of patients with osteogenesis imperfecta.
Lund AM et al.
Archives of Disease in Childhood, 1999
Collagen-derived markers of bone metabolism in osteogenesis imperfecta.
Lund AM et al.
Acta Paediatrica (oslo, Norway : 1992), 1998
Parental mosaicism and autosomal dominant mutations causing structural abnormalities of collagen I are frequent in families with osteogenesis imperfecta type III/IV.
Lund AM et al.
Acta Paediatrica (oslo, Norway : 1992), 1997
Serine for glycine substitutions in the C-terminal third of the alpha 1(I) chain of collagen I in five patients with nonlethal osteogenesis imperfecta.
Lund AM et al.
Human Mutation, 1997
(G586V) substitutions in the alpha 1 and alpha 2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta?
Lund AM et al.
Human Mutation, 1997
Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism.
Lund AM et al.
European Journal of Human Genetics : Ejhg, 1996
Co-existence of osteogenesis imperfecta and hyperparathyroidism.
Zimmermann-Belsing T et al.
Journal of Endocrinological Investigation, 0