140 Publications (Page 4 of 6)
1996
Bone dysplasias in man: molecular insights.
Francomano, Clair A⋅Mc Intosh, Iain and Wilkin, D J
Current opinion in genetics & development, vol. 6, (no. 3), pp. 301-8, 1996/Jun. | Journal Article
 
Brachydactyly Type C Gene Maps to Human Chromosome 12q24
Polymeropoulos, Mihael H⋅Ide, Susan E⋅Magyari, Trish and Francomano, Clair A
Genomics, vol. 38, (no. 1), pp. 50, 1996-11-15. | Journal Article
 
Brachydactyly type C gene maps to human chromsome 12q24.
Polymeropoulos, M H⋅Ide, S E⋅Magyari, T and Francomano, Clair A
Genomics, vol. 38, (no. 1), pp. 45-50, 1996/Nov/15. | Journal Article
 
Career development for women in academic medicine: Multiple interventions in a department of medicine.
Fried, Linda P⋅Francomano, Clair A⋅Mac Donald, Susan M⋅Wagner, Elizabeth M⋅Stokes, E J⋅Carbone, Kathryn M⋅Bias, W B⋅Newman, Mary M and Stobo, J D
JAMA : the journal of the American Medical Association, vol. 276, (no. 11), pp. 898-905, 1996/Sep/18. | Journal Article
 
Challenges for Junior Faculty: Mentoring and Family-Reply
Fried, Linda P⋅Francomano, Clair A⋅MacDonald, Susan M⋅Wagner, Elizabeth M⋅Bias, Wilma B⋅Stokes, Emma J⋅Newman, Mary M and Stobo, John D
JAMA, vol. 276, (no. 24), pp. 1955, 1996-12-25. | Journal Article
 
Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish.
Ide, S E⋅Ortiz de Luna, R I⋅Francomano, Clair A and Polymeropoulos, M H
Human genetics, vol. 98, (no. 5), pp. 572-5, 1996/Nov. | Journal Article
 
Hypochondroplasia: molecular analysis of the fibroblast growth factor receptor 3 gene.
Bellus, Gary A⋅Mc Intosh, Iain⋅Szabo, J⋅Aylsworth, A⋅Kaitila, I and Francomano, Clair A
Annals of the New York Academy of Sciences, vol. 785, pp. 182-7, 1996/Jun/8. | Journal Article
 
Hypochondroplasia: Molecular Analysis of the Fibroblast Growth Factor Receptor 3 Gene
Bellus, Gary A⋅Mc Intosh, Iain⋅Szabo, Jinny⋅Aylsworth, Arthur⋅Kaitila, Ilkka and Francomano, Clair A
Annals of the New York Academy of Sciences, vol. 785, (no. 1), pp. 182-187, 1996. | Journal Article
 
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes.
Bellus, Gary A⋅Gaudenz, K⋅Zackai, E H⋅Clarke, L A⋅Szabo, J⋅Francomano, Clair A and Muenke, M
Nature genetics, vol. 14, (no. 2), pp. 174-6, 1996/Oct. | Journal Article
 
Progress in medical genetics: map-based gene discovery and the molecular pathology of skeletal dysplasias.
Mc Kusick, Victor A⋅Amberger, J S and Francomano, Clair A
American journal of medical genetics, vol. 63, (no. 1), pp. 98-105, 1996/May/3. | Journal Article
 
The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16
Polymeropoulos, MH⋅Ide, SE⋅Wright, M.⋅Goodship, J.⋅Weissenbach, J.⋅Pyeritz, RE⋅Da Silva, EO⋅De Luna, RIO and Francomano, Clair A
Genomics, vol. 35, (no. 1), pp. 1-5, 1996. | Journal Article
1995
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
Bellus, Gary A⋅Hefferon, T W⋅Ortiz de Luna, R I⋅Hecht, Jacqueline T⋅Horton, William A⋅Machado, M⋅Kaitila, I⋅Mc Intosh, Iain and Francomano, Clair A
American journal of human genetics, vol. 56, (no. 2), pp. 368-73, 1995/Feb. | Journal Article
 
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia.
Bellus, Gary A⋅Mc Intosh, Iain⋅Smith, E A⋅Aylsworth, A S⋅Kaitila, I⋅Horton, William A⋅Greenhaw, G A⋅Hecht, Jacqueline T and Francomano, Clair A
Nature genetics, vol. 10, (no. 3), pp. 357-9, 1995/Jul. | Journal Article
 
Association study of transforming growth factor alpha (TGF alpha ) TaqI polymorphism and oral clefts: Indication of gene-environment interaction in a population-based sample of infants with birth defects
Hwang, S-J⋅Beaty, Terri L⋅Panny, S. R⋅Street, NA⋅Joseph, JM⋅Gordon, S.⋅Mc Intosh, Iain and Francomano, Clair A
American Journal of Epidemiology, vol. 141, (no. 7), pp. 629-635, 1995. | Journal Article
 
Association Study of Transforming Growth Factor Alpha (TGFalpha) "TaqI" Polymorphism and Oral Clefts: Indication of Gene-Environment Interaction in a Population-based Sample of Infants with Birth Defects
Hwang, Shih-Jen⋅Beaty, Terri⋅Panny, Susan⋅Street, Nancy⋅Joseph, J.⋅Gordon, Shiela⋅McIntosh, Iain and Francomano, Clair
American Journal of Epidemiology, vol. 141, (no. 7), pp. 629, 19950401. | Journal Article
 
Association Study of Transforming Growth Factor Alpha (TGFα) TaqI Polymorphismand Oral Clefts: Indication of Gene-Environment Interaction in a Population-based Sample of Infants with Birth Defects
Hwang, Shih-Jen⋅Beaty, Terri H⋅Panny, Susan R⋅Street, Nancy A⋅Joseph, J. Mehsen⋅Gordon, Shiela⋅McIntosh, Iain and Francomano, Clair A
American Journal of Epidemiology, vol. 141, (no. 7), pp. 636, 1995-04-01. | Journal Article
 
COL5A1: Fine genetic mapping and exclusion as candidate gene in families with Nail-Patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos syndrome type II
Greenspan, DS⋅Northrup, Hope⋅Au, Kit Sing P⋅McAllister, KA⋅Francomano, Clair A⋅Wenstrup, RJ⋅Marchuk, Douglas A and Kwiatkowski, David J
Genomics, vol. 25, (no. 3), pp. 737-739, 1995. | Journal Article
 
Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen.
Mc Intosh, Iain⋅Abbott, M H and Francomano, Clair A
Human mutation, vol. 5, (no. 2), pp. 121-5, 1995. | Journal Article
 
Confirmatory linkage of hypochondroplasia to chromosome arm 4p.
Hecht, Jacqueline T⋅Herrera, C A⋅Greenhaw, G A⋅Francomano, Clair A⋅Bellus, G A and Blanton, S H
American journal of medical genetics, vol. 57, (no. 3), pp. 505-6, 1995/Jul/3. | Journal Article
 
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons
Nijbroek, G.⋅Sood, S.⋅Mc Intosh, Iain⋅Francomano, Clair A⋅Bull, E.⋅Da Veiga Pereira, Lygia⋅Ramirez, Francesco⋅Pyeritz, RE and Dietz, Harry H
American Journal of Human Genetics, vol. 57, (no. 1), pp. 8-21, 1995. | Journal Article
 
Key role for a minor collagen.
Francomano, Clair A
Nature genetics, vol. 9, (no. 1), pp. 6-8, 1995/Jan. | Journal Article
 
Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22.
Polymeropoulos, M H⋅Poush, J⋅Rubenstein, J R and Francomano, Clair A
Genomics, vol. 27, (no. 2), pp. 225-9, 1995/May/20. | Journal Article
 
Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia
Hecht, Jacqueline T⋅Nelson, LD⋅Crowder, E.⋅Wang, Yang⋅Elder, FFB⋅Harrison, WR⋅Francomano, Clair A⋅Prange, CK⋅Lennon, GG⋅Deere, M. and Lawler, John W
Nature Genetics, vol. 10, (no. 3), pp. 325-329, 1995. | Journal Article
 
The gene for pycnodysostosis maps to human chromosome 1cen-q21
Polymeropoulos, MH⋅Isela Ortiz De Luna, R.⋅Ide, SE⋅Torres, R.⋅Rubenstein, James L and Francomano, Clair A
Nature Genetics, vol. 10, (no. 2), pp. 238-239, 1995. | Journal Article
 
The Genetic Basis of Dwarfism
Francomano, Clair
The New England Journal of Medicine, vol. 332, (no. 1), pp. 59, 19950105. | Journal Article