Associated Papers
Over-Representation of Recessive Osteogenesis Imperfecta in Asian Indian Children.
Panigrahi I et al.
Journal of Pediatric Genetics, 2022
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
Novel mutations in BMP1 induce a rare type of osteogenesis imperfecta.
Xu XJ et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report.
Sangsin A et al.
Bmc Medical Genetics, 2017
Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.
Pollitt RC et al.
American Journal of Medical Genetics. Part A, 2016
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
Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic BMP1 Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta.
Syx D et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015
Select a paper to view details