Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships-Reference-Cited by-同舟云学术

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Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships

Published:2008-11-07 Issue:3 Volume:18 Page:463-471
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Bodian Dale L.,Chan Ting-Fung,Poon Annie,Schwarze Ulrike,Yang Kathleen,Byers Peter H.,Kwok Pui-Yan,Klein Teri E.

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Reference39 articles.

1. Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta;Cabral;Nat. Genet.,2007

2. Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta;Barnes;N. Engl. J. Med.,2006

3. CRTAP is required for prolyl 3-hydroxylation and mutations cause recessive osteogenesis imperfecta;Morello;Cell,2006

4. Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II;Bonadio;Nature,1985

5. Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans;Marini;Hum. Mutat.,2007

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1. A recurrent de novo missense mutation in COL1A1 causes osteogenesis imperfecta type II and preterm delivery in Normande cattle;Genetics Selection Evolution;2024-05-21

2. Exome Sequencing for the Diagnostics of Osteogenesis Imperfecta in Six Russian Patients;Current Issues in Molecular Biology;2024-04-29

3. Case Report: A novel de novo variant of COL1A1 in fetal genetic osteogenesis imperfecta;Frontiers in Endocrinology;2023-11-02

4. NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study;Frontiers in Endocrinology;2023-09-22

5. A novel mutation in COL1A1 causing osteogenesis imperfecta/hearing loss;Brazilian Journal of Otorhinolaryngology;2023-09

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