Associated Papers
NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.
Sałacińska K et al.
Frontiers in Endocrinology, 2023
37810882 (PubMed )
Supplement: Table_1.xlsx › supplementary_materials
Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects.
Yang L 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, 2022
35044492 (PubMed )
Supplement: 198_2021_6263_MOESM2_ESM.xlsx › COL1A1_HGMD_data
Genotype-Phenotype Association Analysis Reveals New Pathogenic Factors for Osteogenesis Imperfecta Disease.
Shi J et al.
Frontiers in Pharmacology, 2019
31680973 (PubMed )
Supplement: Table_1.xlsx › Sheet1
Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta.
Lin HY et al.
Orphanet Journal of Rare Diseases, 2015
Identifying mutated proteins secreted by colon cancer cell lines using mass spectrometry.
Mathivanan S et al.
Journal of Proteomics, 2012
Identification of a missense mutation of c.3064G>A, Gly1022Ser in exon 43 of COL1A1 gene in a girl with osteogenesis imperfecta type III.
Chen CP et al.
Genetic Counseling (geneva, Switzerland), 2012
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