Iain McIntosh

Association of human aging with a functional variant of klotho

Dan E. Arking, Alice Krebsová, Milan Maçek et al. · Proceedings of the National Academy of Sciences · 2002 · 488 citations · Full text

Education, Genetics, Molecular Genetics +17

Achondroplasia is defined by recurrent G380R mutations of FGFR3.

Gary A. Bellus, Timothy Hefferon, Rosa Isela Ortiz De Luna et al. · PubMed · 1995 · 483 citations

Life Sciences, Genetics, Molecular Genetics +7

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

Gary A. Bellus, Iain McIntosh, Elizabeth A. Smith et al. · Nature Genetics · 1995 · 476 citations

Life Sciences, Genetics, Molecular Genetics +12

Four Novel FBN1 Mutations: Significance for Mutant Transcript Level and EGF-like Domain Calcium Binding in the Pathogenesis of Marfan Syndrome

Harry C. Dietz, Iain McIntosh, Lynn Y. Sakai et al. · Genomics · 1993 · 304 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

A type X collagen mutation causes Schmid metaphyseal chondrodysplasia

Matthew L. Warman, Margaret H. Abbott, Suneel Apte et al. · Nature Genetics · 1993 · 267 citations

Medicine, Genetics, Pathology +13