Associated Papers
High bone mass phenotype in a cohort of patients with Osteogenesis Imperfecta caused due to BMP1 and C-propeptide cleavage variants in COL1A1.
Campanini EH et al.
Bone Reports, 2021
Novel homozygous variant in BMP1 associated with a rare osteogenesis imperfecta phenotype.
Choksi IN 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, 2021
Genetic analysis of osteogenesis imperfecta in the Palestinian population: molecular screening of 49 affected families.
Essawi O et al.
Molecular Genetics & Genomic Medicine, 2018
Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report.
Sangsin A et al.
Bmc Medical Genetics, 2017
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.
Cho SY et al.
Human Mutation, 2015
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