Výsledky vyhledávání - "Deborah M. Gagnon"

Demographic Studies from a National Gaucher Disease Screening Program

Autor: Beth A. Fine, Deborah M. Gagnon, Eugene Pergament

Publikováno v: Journal of Genetic Counseling. 7:385-399

In May 1993, the National Gaucher Foundation initiated a nationwide Gaucher disease screening program in an attempt to promote recognition of the disease and to detect previously undiagnosed individuals. The program was based on self-selection by cli

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae6f8bf1003eb82ac6a724c4d0d508de
https://doi.org/10.1023/a:1022876631088

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Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission

Autor: Kathleen B. Digre, Myung Sik Lee, Marco A. Castañeda, Christopher M. Gomez, Susan Perlman, Launce Gouw, Stefan M. Pulst, Elsdon Storey, Kenneth H. Fischbeck, Deborah M. Gagnon, F. Raul Jeri, Louis J. Ptáček, Thomas D. Bird, Catherine K. McKenna

Publikováno v: Human Molecular Genetics. 7:525-532

The gene for spinocerebellar ataxia 7 (SCA7) includes a transcribed, translated CAG tract that is expanded in SCA7 patients. We have determined expansions in 73 individuals from 17 SCA7 kindreds and compared them with repeat lengths of 180 unaffected

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd05db3b1122f05f87be29300e162d32
https://doi.org/10.1093/hmg/7.3.525

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Genotype-phenotype correlation for nucleotide substitutions in the IgII- IgIII linker of FGFR2

Autor: Ethylin Wang Jabs, Michael Oldridge, Peter W. Lunt, Donna M. McDonald-McGinn, Maximilian Muenke, John K. Heath, Andrew O.M. Wilkie, Dominique M. Moloney, George E. Hoganson, Deborah M. Gagnon, Elaine H. Zackai, Timothy D. Howard, Stephen R.F. Twigg

Publikováno v: Human Molecular Genetics. 6:137-143

Dominantly acting, allelic mutations of the fibroblastgrowth factor receptor 2 (FGFR2) gene have beendescribed in five craniosynostosis syndromes. In Apertsyndrome, characterised by syndactyly of the handsand feet, recurrent mutations of a serine-pro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efe408be965fa454913754d330168db3
https://doi.org/10.1093/hmg/6.1.137

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