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Current Opinion in Genetics & Development|June 1, 1996
Bone dysplasias in man: molecular insightsC A Francomano, I McIntosh, D J WilkinEndocrine Reviews|March 4, 2000
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricansZ Vajo, C A Francomano, D J WilkinHuman Mutation|January 1, 1995
Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagenI McIntosh, M H Abbott, C A FrancomanoHuman Molecular Genetics|February 1, 1994
Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locusI McIntosh, M H Abbott, M L Warman, et al.American Journal of Medical Genetics|September 13, 2000
Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codonsD J Wilkin, R Liberfarb, J Davis, et al.Mammalian Genome : Official Journal of the International Mammalian Genome Society|September 29, 1999
Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for agingZ Vajo, L M King, T Jonassen, et al.Pediatric Nephrology (Berlin, Germany)|January 1, 1992
Diagnostic approaches to renal genetic disorders using DNA analysisC A FrancomanoMatrix Biology : Journal of the International Society for Matrix Biology|March 21, 1998
Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21M R Johnson, D J Wilkin, H L Vos, et al.Genomics|August 1, 1993
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndromeH C Dietz, I McIntosh, L Y Sakai, et al.American Journal of Human Genetics|December 5, 1998
Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndromeR A Montgomery, M T Geraghty, E Bull, et al.Pageof 17