140 Publications (Page 3 of 6)
2000
Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: Analysis of potential premature termination codons
Wilkin, Douglas J⋅Liberfarb, Ruth⋅Davis, Joie⋅Levy, Howard P⋅Cole, William G⋅Francomano, Clair A and Cohn, Daniel H
American Journal of Medical Genetics, vol. 94, (no. 2), pp. 148, 11 September 2000. | Journal Article
 
Recommendations for national and local regulatory authorities concerning research in genetic markers of disease
Granger, Christopher B⋅Granger, Christopher B⋅Keavney, Bernard⋅Keavney, Bernard⋅Francomano, C⋅Francomano, Clair⋅Olsson, Gunnar⋅Olsson, G⋅Yusuf, S and Yusuf, Salim
American Heart Journal, vol. 140, (no. 4), pp. S5, October 2000. | Journal Article
 
Severe hypodontia and oral xanthomas in Alagille syndrome
Ho, Nicola C⋅Lacbawan, Felicitas⋅Francomano, Clair A and Ho, Victor
American Journal of Medical Genetics, vol. 93, (no. 3), pp. 252, 31 July 2000. | Journal Article
 
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 Nigricans1
Vajo, Zoltan⋅Francomano, Clair A and Wilkin, Douglas J
Endocrine Reviews, vol. 21, (no. 1), pp. 39, 2000-02. | Journal Article
1999
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.
Tavormina, P L⋅Bellus, Gary A⋅Webster, M K⋅Bamshad, Michael⋅Fraley, A E⋅Mc Intosh, Iain⋅Szabo, J⋅Jiang, W⋅Jabs, Ethylin W⋅Wilcox, W R⋅Wasmuth, J J⋅Donoghue, Daniel J⋅Thompson, Lisa M and Francomano, Clair A
American journal of human genetics, vol. 64, (no. 3), pp. 722-31, 1999/Mar. | Journal Article
 
Characterization of the Human Talin (TLN) Gene: Genomic Structure, Chromosomal Localization, and Expression Pattern
Ben-Yosef, Tamar and Francomano, Clair A
Genomics, vol. 62, (no. 2), pp. 319, 1999-12-01. | Journal Article
 
Conservation of the Caenorhabditis elegans timing gene clk-1 from yeast to human: a gene required for ubiquinone biosynthesis with potential implications for aging
Vajo, Zoltan⋅Vajo, Zoltan⋅King, Lynn M⋅King, Lynn M⋅Jonassen, Tanya⋅Jonassen, Tanya⋅Wilkin, Douglas J⋅Wilkin, Douglas J⋅Ho, Nicola⋅Ho, Nicola⋅Munnich, Arnold⋅Munnich, Arnold⋅Clarke, Catherine F⋅Clarke, Catherine F⋅Francomano, Clair A and Francomano, Clair A
Mammalian Genome, vol. 10, (no. 10), pp. 1004, 19991000. | Journal Article
 
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis.
Gong, Y⋅Krakow, Deborah S⋅Marcelino, J⋅Wilkin, D⋅Chitayat, D⋅Babul-Hirji, R⋅Hudgins, Louanne⋅Cremers, C W⋅Cremers, F P⋅Brunner, H G⋅Reinker, Kent⋅Rimoin, David L⋅Cohn, Daniel H⋅Goodman, F R⋅Reardon, W⋅Patton, M⋅Francomano, Clair A and Warman, Matthew L
Nature genetics, vol. 21, (no. 3), pp. 302-4, 1999/Mar. | Journal Article
 
Identification of Nine Novel Mutations in Cartilage Oligomeric Matrix Protein in Patients With Pseudoachondroplasia and Multiple Epiphyseal Dysplasia
Deere, M.⋅Sanford, T.⋅Francomano, Clair A⋅Daniels, K. and Hecht, Jacqueline T
American Journal of Medical Genetics, vol. 85, (no. 5), pp. 486-490, 1999. | Journal Article
 
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.
Bellus, Gary A⋅Bamshad, Michael⋅Przylepa, K A⋅Dorst, J⋅Lee, R R⋅Hurko, O⋅Jabs, Ethylin W⋅Curry, C J⋅Wilcox, William R⋅Lachman, Ralph S⋅Rimoin, David L and Francomano, Clair A
American journal of medical genetics, vol. 85, (no. 1), pp. 53-65, 1999/Jul/2. | Journal Article
 
Small deletions in the type II collagen triple helix produce Kniest dysplasia
Wilkin, Douglas J⋅Artz, Andrew S⋅South, Sarah⋅Lachman, Ralph S⋅Rimoin, David L⋅Wilcox, William R⋅McKusick, Victor A⋅Stratakis, Constantine A⋅Francomano, Clair A and Cohn, Daniel H
American Journal of Medical Genetics, vol. 85, (no. 2), pp. 112, 16 July 1999. | Journal Article
1998
Genetic and physical mapping of the McKusick-Kaufman syndrome.
Stone, D L⋅Agarwala, R⋅Schäffer, A A⋅Weber, J L⋅Vaske, D⋅Oda, T⋅Chandrasekharappa, S C⋅Francomano, Clair A and Biesecker, Leslie G
Human molecular genetics, vol. 7, (no. 3), pp. 475-81, 1998/Mar. | Journal Article
 
Identification of a mutation in liver glycogen phosphorylase in glycogen storage disease type VI.
Chang, S⋅Rosenberg, M J⋅Morton, H⋅Francomano, Clair A and Biesecker, Leslie G
Human molecular genetics, vol. 7, (no. 5), pp. 865-70, 1998/May. | Journal Article
 
Multiple molecular mechanisms underlying subdiagnostic variants of Marfan syndrome.
Montgomery, Robert A⋅Geraghty, Michael T⋅Bull, E⋅Gelb, B D⋅Johnson, M⋅Mc Intosh, Iain⋅Francomano, Clair A and Dietz, Harry H
American journal of human genetics, vol. 63, (no. 6), pp. 1703-11, 1998/Dec. | Journal Article
 
Mutation analysis of LMX1B gene in nail-patella syndrome patients.
Mc Intosh, Iain⋅Dreyer, S D⋅Clough, M V⋅Dunston, J A⋅Eyaid, W⋅Roig, C M⋅Montgomery, T⋅Ala-Mello, S⋅Kaitila, I⋅Winterpacht, A⋅Zabel, B⋅Frydman, M⋅Cole, W G⋅Francomano, Clair A and Lee, Brendan H
American journal of human genetics, vol. 63, (no. 6), pp. 1651-8, 1998/Dec. | Journal Article
 
Mutations in fibroblast growth-factor receptor 3 in sporadic cases of achondroplasia occur exclusively on the paternally derived chromosome.
Wilkin, D J⋅Szabo, J K⋅Cameron, R⋅Henderson, S⋅Bellus, Gary A⋅Mack, M L⋅Kaitila, I⋅Loughlin, John⋅Munnich, A⋅Sykes, B⋅Bonaventure, J and Francomano, Clair A
American journal of human genetics, vol. 63, (no. 3), pp. 711-6, 1998/Sep. | Journal Article
 
Physical mapping of the nail patella syndrome interval at 9q34: ordering of STSs and ESTs.
Eyaid, W M⋅Lisitsyn, Nikolai⋅Clough, M V⋅Root, Holly⋅Root, H⋅Kearns, William⋅Scott, K M⋅Francomano, Clair⋅McCormick, M K⋅Clough, Mark⋅Eyaid, Wafa’a⋅Zhang, X⋅Zhang, X.⋅Lisitsyn, N A⋅Kearns, W G⋅Richards, Julia⋅Francomano, Clair A⋅Scott, Kathleen⋅Richards, J E⋅McIntosh, I.⋅Mc Intosh, Iain and McCormick, M.
Human genetics, vol. 103, (no. 4), pp. 525-6, 1998/Oct. | Journal Article
 
Pycnodysostosis: orofacial manifestations in two pediatric patients.
O'Connell, A C⋅Brennan, M T and Francomano, Clair A
Pediatric dentistry, vol. 20, (no. 3), pp. 204-7, 1998 May-Jun. | Journal Article
 
Sleep-disordered breathing in children with achondroplasia
Mogayzel, Peter J⋅Mogayzel, Peter J⋅Carroll, John L⋅Carroll, John L⋅Loughlin, Gerald M⋅Loughlin, Gerald M⋅Hurko, O⋅Hurko, Orest⋅Francomano, C A⋅Francomano, Clair A⋅Marcus, Carole L and Marcus, Carole L
The Journal of Pediatrics, vol. 132, (no. 4), pp. 671, 1998. | Journal Article
 
Software for constructing and verifying pedigrees within large genealogies and an application to the Old Order Amish of Lancaster County.
Agarwala, R⋅Biesecker, Leslie G⋅Hopkins, K A⋅Francomano, Clair A and Schaffer, A A
Genome research, vol. 8, (no. 3), pp. 211-21, 1998/Mar. | Journal Article
1997
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
Muenke, M⋅Gripp, K W⋅McDonald-McGinn, D M⋅Gaudenz, K⋅Whitaker, L A⋅Bartlett, S P⋅Markowitz, R I⋅Robin, N H⋅Nwokoro, N⋅Mulvihill, J J⋅Losken, H W⋅Mulliken, J B⋅Guttmacher, A E⋅Wilroy, R S⋅Clarke, L A⋅Hollway, G⋅Adès, L C⋅Haan, E A⋅Mulley, J C⋅Cohen, M M⋅Bellus, Gary A⋅Francomano, Clair A⋅Moloney, D M⋅Wall, S A and Wilkie, A O
American journal of human genetics, vol. 60, (no. 3), pp. 555-64, 1997/Mar. | Journal Article
 
Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21.
Johnson, M R⋅Wilkin, D J⋅Vos, H L⋅Ortiz de Luna, R I⋅Dehejia, A M⋅Polymeropoulos, M H and Francomano, Clair A
Matrix biology : journal of the International Society for Matrix Biology, vol. 16, (no. 5), pp. 289-92, 1997/Nov. | Journal Article
 
Fine mapping of the nail-patella syndrome locus at 9q34.
Mc Intosh, Iain⋅Clough, M V⋅Schäffer, A A⋅Puffenberger, E G⋅Horton, V K⋅Peters, K⋅Abbott, M H⋅Roig, C M⋅Cutone, S⋅Ozelius, L⋅Kwiatkowski, David J⋅Pyeritz, R E⋅Brown, L J⋅Pauli, Richard M⋅McCormick, M K and Francomano, Clair A
American journal of human genetics, vol. 60, (no. 1), pp. 133-42, 1997/Jan. | Journal Article
 
Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis.
Moloney, D M⋅Wall, S A⋅Ashworth, G J⋅Oldridge, M⋅Glass, I A⋅Francomano, Clair A⋅Muenke, M and Wilkie, A O
Lancet, vol. 349, (no. 9058), pp. 1059-62, 1997/Apr/12. | Journal Article
1996
A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis.
Johnson, M R⋅Polymeropoulos, M H⋅Vos, H L⋅Ortiz de Luna, R I and Francomano, Clair A
Genome research, vol. 6, (no. 11), pp. 1050-5, 1996/Nov. | Journal Article