Concepedia
Statistics
Publications
4
Citations
267
H-Index
Active since
1992
Affiliations
University of Washington(Current)
Cedars-Sinai Medical Center
University of California, Los Angeles
R. Bogaert is an author at University of Washington specializing in molecular pathology, skeletal dysplasias, and genetics.
Publications per year
1992–1995
Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type
George E. Tiller, Paula A. Polumbo, Mary Ann Weis et al. · Nature Genetics · 1995 · 93 citations
Medicine, Genetics, Molecular Genetics +14
An amino acid substitution (Gly853–>Glu) in the collagen alpha 1(II) chain produces hypochondrogenesis.
R. Bogaert, George E. Tiller, MaryAnn Weis et al. · Journal of Biological Chemistry · 1992 · 75 citations · Full text
Medicine, Genetics, Molecular Biology +14
Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.
R. Bogaert, Douglas J. Wilkin, William R. Wilcox et al. · PubMed · 1994 · 51 citations
Medicine, Genetics, Molecular Genetics +11
A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasia
Douglas J.WIIkln, R. Bogaert, Ralph S. Lachman et al. · Human Molecular Genetics · 1994 · 48 citations
Life Sciences, Genetics, Molecular Genetics +15
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