140 Publications (Page 5 of 6)
1995
The question of heterogeneity in Marfan syndrome
Dietz, Harry H⋅Francke, Uta⋅Furthmayr, Heinz⋅Francomano, Clair A⋅De Paepe, Anne⋅Devereux, Richard B⋅Ramirez, Francesco and Pyeritz, R.
Nature Genetics, vol. 9, (no. 3), pp. 228-231, 1995. | Journal Article
 
The question of heterogeneity in Marfan syndrome.
Dietz, H⋅Francke, U⋅Furthmayr, H⋅Francomano, C⋅De Paepe, A⋅Devereux, R⋅Ramirez, F and Pyeritz, R
(pp. 228-231). March 1995
1994
Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus.
Mc Intosh, Iain⋅Abbott, M H⋅Warman, Matthew L⋅Olsen, Bjorn R and Francomano, Clair A
Human molecular genetics, vol. 3, (no. 2), pp. 303-7, 1994/Feb. | Journal Article
 
First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia
Bellus, Gary A⋅Escallon, Cathleen S⋅Ortiz de Luna, R.⋅Shumway, JB⋅Blakemore, Karin J⋅Mc Intosh, Iain and Francomano, Clair A
Lancet, vol. 344, (no. 8935), pp. 1511-1512, 1994. | Journal Article
 
High-resolution genetic mapping of the cartilage-hair hypoplasia (CHH) gene in Amish and Finnish families.
Sulisalo, T⋅Francomano, Clair A⋅Sistonen, P⋅Maher, J F⋅McKusick, V A⋅De La Chapelle, Albert and Kaitila, I
Genomics, vol. 20, (no. 3), pp. 347-53, 1994/Apr. | Journal Article
 
High-resolution linkage-disequilibrium mapping of the cartilage-hair hypoplasia gene.
Sulisalo, T⋅Klockars, J⋅Mäkitie, O⋅Francomano, Clair A⋅De La Chapelle, Albert⋅Kaitila, I and Sistonen, P
American journal of human genetics, vol. 55, (no. 5), pp. 937-45, 1994/Nov. | Journal Article
 
Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p.
Francomano, Clair A⋅Ortiz de Luna, R I⋅Hefferon, T W⋅Bellus, Gary A⋅Turner, C E⋅Taylor, E⋅Meyers, D A⋅Blanton, Susan⋅Murray, John C and Mc Intosh, Iain
Human molecular genetics, vol. 3, (no. 5), pp. 787-92, 1994/May. | Journal Article
 
Report from the Maryland Epidemiology Schizophrenia Linkage Study: no evidence for linkage between schizophrenia and a number of candidate and other genomic regions using a complex dominant model.
Karayiorgou, M⋅Kasch, L⋅Lasseter, V K⋅Hwang, J⋅Elango, R⋅Bernardini, D J⋅Kimberland, M⋅Babb, R⋅Francomano, Clair A and Wolyniec, P S
American journal of medical genetics, vol. 54, (no. 4), pp. 345-53, 1994/Dec/15. | Journal Article
 
Substitution of a cysteine residue in a non-calcium binding, EGF-like domain of fibrillin segregates with the Marfan syndrome in a large kindred
Piersall, LD⋅Dietz, Harry H⋅Hall, BD⋅Cadle, RG⋅Pyeritz, RE⋅Francomano, Clair A and Mc Intosh, Iain
Human Molecular Genetics, vol. 3, (no. 6), pp. 1013-1014, 1994. | Journal Article
 
The status of online Mendelian inheritance in man (OMIM) medio 1994
Pearson, P.⋅Francomano, Clair A⋅Foster, P.⋅Bocchini, C.⋅Li, Peter L and Mc Kusick, Victor A
Nucleic Acids Research, vol. 22, (no. 17), pp. 3470-3473, 1994. | Journal Article
1993
A type X collagen mutation causes Schmid metaphyseal chondrodysplasia.
Warman, Matthew L⋅Abbott, M⋅Apte, Suneel S⋅Hefferon, T⋅Mc Intosh, Iain⋅Cohn, Daniel H⋅Hecht, Jacqueline T⋅Olsen, Bjorn R and Francomano, Clair A
Nature genetics, vol. 5, (no. 1), pp. 79-82, 1993/Sep. | Journal Article
 
Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome.
Dietz, Harry H⋅Mc Intosh, Iain⋅Sakai, L Y⋅Corson, G M⋅Chalberg, S C⋅Pyeritz, R E and Francomano, Clair A
Genomics, vol. 17, (no. 2), pp. 468-75, 1993/Aug. | Journal Article
 
Genetic heterogeneity in families with hereditary multiple exostoses.
Cook, A⋅Raskind, Wendy H⋅Blanton, Susan⋅Pauli, Richard M⋅Gregg, R G⋅Francomano, Clair A⋅Puffenberger, E⋅Conrad, Ernest U⋅Schmale, G and Schellenberg, Gerard D
American journal of human genetics, vol. 53, (no. 1), pp. 71-9, 1993/Jul. | Journal Article
 
Linkage of typical pseudoachondroplasia to chromosome 19.
Hecht, Jacqueline T⋅Francomano, Clair A⋅Briggs, Michael⋅Deere, M⋅Conner, B⋅Horton, William A⋅Warman, Matthew L⋅Cohn, Daniel H and Blanton, Susan
Genomics, vol. 18, (no. 3), pp. 661-6, 1993/Dec. | Journal Article
 
The skipping of constitutive exons in vivo induced by nonsense mutations.
Dietz, Harry H⋅Valle, David⋅Francomano, Clair A⋅Kendzior, RJ J⋅Pyeritz, RE and Cutting, Garry R
Science (Washington), vol. 259, (no. 5095), pp. 680-683, 1993. | Journal Article
1992
Atopy and bronchial hyperresponsiveness: exclusion of linkage to markers on chromosomes 11q and 6p.
Amelung, P J⋅Panhuysen, C I⋅Postma, D S⋅Levitt, R C⋅Koeter, G H⋅Francomano, Clair A⋅Bleecker, E R and Meyers, D A
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology, vol. 22, (no. 12), pp. 1077-84, 1992/Dec. | Journal Article
 
Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains.
Dietz, Harry H⋅Saraiva, J M⋅Pyeritz, R E⋅Cutting, Garry R and Francomano, Clair A
Human mutation, vol. 1, (no. 5), pp. 366-74, 1992. | Journal Article
 
Dextromethorphan and high-dose benzoate therapy for nonketotic hyperglycinemia in an infant.
Hamosh, Ada⋅Mc Donald, John W⋅Valle, David⋅Francomano, Clair A⋅Niedermeyer, E and Johnston, Michael V
The Journal of pediatrics, vol. 121, (no. 1), pp. 131-5, 1992/Jul. | Journal Article
 
Diagnostic approaches to renal genetic disorders using DNA analysis.
Francomano, Clair A
Pediatric nephrology (Berlin, Germany), vol. 6, (no. 1), pp. 113-8, 1992/Jan. | Journal Article
 
Exclusion of human proteoglycan link protein (CRTL1) and type II collagen (COL2A1) genes in pseudoachondroplasia.
Hecht, Jacqueline T⋅Blanton, Susan⋅Wang, Y⋅Daiger, Stephen P⋅Horton, William A⋅Rhodes, C⋅Yamada, Yoshihiko and Francomano, Clair A
American journal of medical genetics, vol. 44, (no. 4), pp. 420-4, 1992/Nov/1. | Journal Article
 
Identification of a mutation in the gene encoding the alpha subunit of the stimulatory G protein of adenylyl cyclase in McCune-Albright syndrome.
Schwindinger, William F⋅Francomano, Clair A and Levine, Michael A
Proceedings of the National Academy of Sciences of the United States of America, vol. 89, (no. 11), pp. 5152-6, 1992/Jun/1. | Journal Article
 
Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.
Dietz, Harry H⋅Pyeritz, R E⋅Puffenberger, E G⋅Kendzior, R J⋅Corson, G M⋅Maslen, C L⋅Sakai, Lynn⋅Francomano, Clair A and Cutting, Garry R
The Journal of clinical investigation, vol. 89, (no. 5), pp. 1674-80, 1992/May. | Journal Article
 
Molecular genetic analysis in autosomal dominant keratoconus.
Rabinowitz, Y S⋅Maumenee, I H⋅Lundergan, M K⋅Puffenberger, E⋅Zhu, Danping⋅Antonarakis, S and Francomano, Clair A
Cornea, vol. 11, (no. 4), pp. 302-8, 1992/Jul. | Journal Article
 
Mutations in the fibrillin gene and variability of the Marfan syndrome
Dietz, Harry C⋅Pyeritz, Reed E⋅Cutting, Garry R and Francomano, Clair A
Journal of Molecular and Cellular Cardiology, vol. 24, pp. S76, August 1992. | Journal Article
1991
Analysis of the chondroitin sulfate proteoglycan core protein (CSPGCP) gene in achondroplasia and pseudoachondroplasia.
Finkelstein, Janice E⋅Doege, K⋅Yamada, Yoshihiko⋅Pyeritz, R E⋅Graham, J M⋅Moeschler, J B⋅Pauli, Richard M⋅Hecht, Jacqueline T and Francomano, Clair A
American journal of human genetics, vol. 48, (no. 1), pp. 97-102, 1991/Jan. | Journal Article