Clair Francomano
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Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
HC Dietz, CR Cutting, RE Pyeritz, CL Maslen, LY Sakai, GM Corson, ...
Nature 352 (6333), 337-339, 1991
The 2017 international classification of the Ehlers–Danlos syndromes
F Malfait, C Francomano, P Byers, J Belmont, B Berglund, J Black, ...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2017
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
GA Bellus, TW Hefferon, RIO de Luna, JT Hecht, WA Horton, M Machado, ...
American journal of human genetics 56 (2), 368, 1995
Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.
WF Schwindinger, CA Francomano, MA Levine
Proceedings of the National Academy of Sciences 89 (11), 5152-5156, 1992
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia
GA Bellus, I McIntosh, EA Smith, AS Aylsworth, I Kaitila, WA Horton, ...
Nature genetics 10 (3), 357-359, 1995
The skipping of constitutive exons in vivo induced by nonsense mutations
HC Dietz, D Valle, CA Francomano, RJ Kendzior Jr, RE Pyeritz, ...
Science 259 (5095), 680-683, 1993
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
M Muenke, KW Gripp, DM McDonald-McGinn, K Gaudenz, LA Whitaker, ...
American journal of human genetics 60 (3), 555, 1997
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon …
Z Vajo, CA Francomano, DJ Wilkin
Endocrine reviews 21 (1), 23-39, 2000
Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia
JT Hecht, LD Nelson, E Crowder, Y Wang, FFB Elder, WR Harrison, ...
Nature genetics 10 (3), 325-329, 1995
Career development for women in academic medicine: Multiple interventions in a department of medicine
LP Fried, CA Francomano, SM MacDonald, EM Wagner, EJ Stokes, ...
Jama 276 (11), 898-905, 1996
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome
HC Dietz, I McIntosh, LY Sakai, GM Corson, SC Chalberg, RE Pyeritz, ...
Genomics 17 (2), 468-475, 1993
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis
Y Gong, D Krakow, J Marcelino, D Wilkin, D Chitayat, R Babul-Hirji, ...
Nature genetics 21 (3), 302-304, 1999
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
GA Bellus, K Gaudenz, EH Zackai, LA Clarke, J Szabo, CA Francomano, ...
Nature genetics 14 (2), 174-176, 1996
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis
VL Ruiz-Perez, SE Ide, TM Strom, B Lorenz, D Wilson, K Woods, L King, ...
Nature genetics 24 (3), 283-286, 2000
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1
JJ Johnston, RI Kelley, TO Crawford, DH Morton, R Agarwala, T Koch, ...
The American Journal of Human Genetics 67 (4), 814-821, 2000
Association Study of Transforming Growth Factor Alpha (TGFα) TaqI Polymorphismand Oral Clefts: Indication of Gene-Environment Interaction in a Population …
SJ Hwang, TH Beaty, SR Panny, NA Street, JM Joseph, S Gordon, ...
American Journal of Epidemiology 141 (7), 629-636, 1995
A type X collagen mutation causes Schmid metaphyseal chondrodysplasia
ML Warman, M Abbott, SS Apte, T Hefferon, I McIntosh, DH Cohn, ...
Nature genetics 5 (1), 79-82, 1993
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.
G Nijbroek, S Sood, I McIntosh, CA Francomano, E Bull, L Pereira, ...
American journal of human genetics 57 (1), 8, 1995
Genetic heterogeneity in families with hereditary multiple exostoses
A Cook, W Raskind, SH Blanton, RM Pauli, RG Gregg, CA Francomano, ...
American journal of human genetics 53 (1), 71, 1993
Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome
DJ Wilkin, JK Szabo, R Cameron, S Henderson, GA Bellus, ML Mack, ...
The American Journal of Human Genetics 63 (3), 711-716, 1998
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