Associated Papers
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Pathogenic signal peptide variants in the human genome.
Gutierrez Guarnizo SA et al.
Nar Genomics and Bioinformatics, 2023
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
Osteogenesis imperfecta: Novel genetic variants and clinical observations from a clinical exome study of 54 Indian patients.
Madhuri V et al.
Annals of Human Genetics, 2021
High Bone Mineral Density Osteogenesis Imperfecta in a Family with a Novel Pathogenic Variant in COL1A2.
Graves LE et al.
Hormone Research in Paediatrics, 2020
Novel mutations in BMP1 induce a rare type of osteogenesis imperfecta.
Xu XJ et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta.
Mrosk J et al.
Bone, 2018
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
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
Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.
Cho SY et al.
Human Mutation, 2015
A polyadenylation site variant causes transcript-specific BMP1 deficiency and frequent fractures in children.
Fahiminiya S et al.
Human Molecular Genetics, 2015
Bone Morphogenetic Protein (BMP) signaling in development and human diseases.
Wang RN et al.
Genes & Diseases, 2014
Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects.
Valencia M et al.
American Journal of Medical Genetics. Part A, 2014
Hyperosteoidosis and hypermineralization in the same bone: bone tissue analyses in a boy with a homozygous BMP1 mutation.
Hoyer-Kuhn H et al.
Calcified Tissue International, 2013
New genes in bone development: what's new in osteogenesis imperfecta.
Marini JC et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Recessive osteogenesis imperfecta: clinical, radiological, and molecular findings.
Rohrbach M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish.
Asharani PV et al.
American Journal of Human Genetics, 2012