B J Starman

Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

Peter H. Byers, Petros Tsipouras, Jeffrey Bonadio et al. · PubMed · 1988 · 231 citations

Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1).

Daniel H. Cohn, B J Starman, Bruce Blumberg et al. · PubMed · 1990 · 168 citations

Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta.

Richard Wenstrup, Marcia Willing, B J Starman et al. · PubMed · 1990 · 116 citations

Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent.

Gillian A. Wallis, B J Starman, Arthur B. Zinn et al. · PubMed · 1990 · 101 citations

Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta.

Marcia Willing, Daniel H. Cohn, B J Starman et al. · Journal of Biological Chemistry · 1988 · 82 citations · Full text

Genetics, Molecular Biology, Osteogenesis +19