Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Beth Knowlton"'
Autor:
Colin J. D. Ross, Estrella Gómez-Tortosa, L. A. Cupples, Qiong Yang, Catherine Dodé, Martha Nance, Ronald J. Trent, Ruth K. Abramson, Elizabeth McCusker, Luc Djoussé, D. Mayo, Marina Frontali, Patrick J. Morrison, Jane S. Paulsen, Randi Jones, Russell L. Margolis, Ryan R. Brinkman, Madeline Harrison, J. F. Gusella, Andrea Zanko, Oksana Suchowersky, Adam Rosenblatt, Alexandra Durr, Richard H. Myers, Andrea Novelletto, E. Almqvist, Beth Knowlton, Marcy E. MacDonald, Michael R. Hayden
Publikováno v:
American Journal of Medical Genetics Part A. :279-282
Huntington disease (HD) is a neurodegenerative disorder caused by the abnormal expansion of CAG repeats in the HD gene on chromosome 4p16.3. Past studies have shown that the size of expanded CAG repeat is inversely associated with age at onset (AO) o
Autor:
Nancy E. Maher, Beth Knowlton, Nancy L. Heard-Costa, Anita L. DeStefano, Richard H. Myers, Jemma B. Wilk, Jeannine S. Volcjak, Serkalem Demissie, L. Adrienne Cupples
Publikováno v:
Genetic Epidemiology. 21:S364-S369
Using the Genetic Analysis Workshop 12 simulated data, we contrasted results for association tests in nuclear families and extended pedigrees using single-nucleotide polymorphism (SNP) data, and we compared results for different trait definitions, fo
Autor:
Marina Frontali, Jane S. Paulsen, Elizabeth McCusker, Qiong Yang, Ruth K. Abramson, Russel L. Margolis, Alexandra Durr, Randi Jones, Estrella Gómez-Tortosa, L. Adrienne Cupples, Andrea Zanko, Richard H. Myers, Martha Nance, Madaline B. Harrison, Oksana Suchowersky, Christopher A. Ross, Adam Rosenblatt, Ronald J. Trent, Luc Djoussé, Andrea Novelletto, James F. Gusella, Michael R. Hayden, Jayalakshmi S. Mysore, Ryan R. Brinkman, David Mayo Cabrero, E. Almqvist, Beth Knowlton, Marcy E. MacDonald, Catherine Dodé, Patrick J. Morrison
Huntington disease (HD) is a neurodegenerative disorder caused by the abnormal expansion of CAG repeats in the HD gene on chromosome 4p16.3. A recent genome scan for genetic modifiers of age at onset of motor symptoms (AO) in HD suggests that one mod
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc65bfccf536ca0b98ac83e9b907be94
https://europepmc.org/articles/PMC1866166/
https://europepmc.org/articles/PMC1866166/
Autor:
L. Adrienne Cupples, Marie Saint-Hilaire, Richard H. Myers, Estrella Gómez-Tortosa, Larry D. Atwood, Andrea Novelletto, Steven M. Hersch, Marina Frontali, Suzanne Tariot, Catherine Dodé, Jane S. Paulsen, E. Almqvist, Luc Djoussé, Ronald J. Trent, Vanessa C. Wheeler, Beth Knowlton, Marcy E. MacDonald, Martha Nance, Alexandra Durr, Ryan R. Brinkman, James F. Gusella, Jayalakshmi S. Mysore, Walter J. Koroshetz, Oksana Suchowersky, Andrea Zanko, Patrick J. Morrison, Ruth K. Abramson, Ana L. Russ, Madeline Harrison, Christopher A. Ross, Michael R. Hayden, Jang Ho J. Cha, David Mayo Cabrero, Michael F. Gusella, Adam Rosenblatt, Elizabeth McCusker, Randi Jones, Russell L. Margolis, Jian-Liang Li
Publikováno v:
American journal of human genetics. 73(3)
Huntington disease (HD) is caused by the expansion of a CAG repeat within the coding region of a novel gene on 4p16.3. Although the variation in age at onset is partly explained by the size of the expanded repeat, the unexplained variation in age at
Publikováno v:
Neurology. 59(9)
Huntington's disease (HD) is an autosomal dominant disease with neurologic manifestations. In transgenic mouse models of HD, weight loss is recognized as a feature associated with the disease onset. It is unclear whether a similar pattern occurs in h
Autor:
Nancy E. Maher, Anita L. DeStefano, Nancy L. Heard-Costa, Jeannine S. Volcjak, Richard H. Myers, L. A. Cupples, Serkalem Demissie, Beth Knowlton, Jemma B. Wilk
Publikováno v:
Genetic epidemiology. 21
The purpose of the current study was to utilize the Genetic Analysis Workshop 12 simulated data to evaluate fine-mapping strategies for quantitative traits. We approached the analysis as if it was a follow-up to a genome scan that had identified two