Zobrazeno 1 - 10
of 28
pro vyhledávání: '"Barbara Weiffenbach"'
Autor:
Margaret E. Brousseau, Ernst J. Schaefer, Josee Dupuis, Brenda Eustace, Paul Van Eerdewegh, Allison L. Goldkamp, Lisa M. Thurston, Michael G. FitzGerald, Diane Yasek-McKenna, Gilmore O'Neill, Gretchen P. Eberhart, Barbara Weiffenbach, Jose M. Ordovas, Mason W. Freeman, Robert H. Brown, Jr., Jessie Z. Gu
Publikováno v:
Journal of Lipid Research, Vol 41, Iss 3, Pp 433-441 (2000)
Abstract: Tangier disease (TD) is an autosomal co-dominant disorder in which homozygotes have a marked deficiency of high density lipoprotein (HDL) cholesterol and, in some cases, peripheral neuropathy and premature coronary heart disease (CHD). Homo
Externí odkaz:
https://doaj.org/article/fd9cecdea07e49dd948151a1774c02e1
Autor:
Ernst J. Schaefer, Michael Fitzgerald, Barbara Weiffenbach, Paul Van Eerdewegh, Gretchen P. Eberhart, Robert H. Brown, Margaret E. Brousseau, Jessie Gu, Lisa M. Thurston, Gilmore O'Neill, Diane Yasek-McKenna, Allison L. Goldkamp, Mason W. Freeman, Josée Dupuis, Brenda K. Eustace, Jose M. Ordovas
Publikováno v:
Journal of Lipid Research, Vol 41, Iss 3, Pp 433-441 (2000)
Tangier disease (TD) is an autosomal co-dominant disorder in which homozygotes have a marked deficiency of high density lipoprotein (HDL) cholesterol and, in some cases, peripheral neuropathy and premature coronary heart disease (CHD). Homozygotes ar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9454293e551c0edef4a5dae80ec36de
https://doi.org/10.1016/s0022-2275(20)34482-5
https://doi.org/10.1016/s0022-2275(20)34482-5
Publikováno v:
Annals of Neurology. 43:279-282
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common inherited diseases of muscle. Until recently, FSHD had received little attention because of its relatively benign course and the perception that it represented a syndrome rather
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::21f914e27829ac3d8878c7b5dc5fcb47
https://doi.org/10.1002/ana.410430303
https://doi.org/10.1002/ana.410430303
Autor:
Barbara Weiffenbach, Donald T. Moir, Gail L. Shaw, James N. Frame, Neil E. Caporaso, Haleem J. Issaq, Roni T. Falk
Publikováno v:
Lung Cancer. 17:61-68
Previous reports of the association between the debrisoquine polymorphism and lung cancer risk are conflicting. Following the report of an association between lung cancer risk and the variant allele CYP2D6(C), we examined the presence of this allele
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37b4cdce55922fb57410ef26ba7a9e62
https://doi.org/10.1016/s0169-5002(97)00649-1
https://doi.org/10.1016/s0169-5002(97)00649-1
Autor:
Robert C. Griggs, Rabi Tawil, Denise A. Figlewicz, Barbara Weiffenbach, Wendy King, Jerry R. Mendell, Michael P. McDermott, John T. Kissel, James Forrester
Publikováno v:
Annals of Neurology. 39:744-748
Facioscapulohumeral muscular dystrophy (FSHD) is characterized by marked inter- and intrafamilial heterogeneity in its clinical expression. The contribution of genetic factors to this variability is not well characterized. We examined the relationshi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a19d94a040960f2afa6ce9c5732346c2
https://doi.org/10.1002/ana.410390610
https://doi.org/10.1002/ana.410390610
Autor:
Michael P. McDermott, Rabi Tawil, James Forrester, Robert C. Griggs, Barbara Weiffenbach, Denise A. Figlewicz
Publikováno v:
Muscle & Nerve. 18:S50-S55
Facioscapulohumeral dystrophy (FSHD) is an autosomal-dominant disorder with a characteristic and distinctive distribution of weakness but a high degree of variation in the age of onset and rate of progression. Monozygotic twins provide the opportunit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e1a9c48affe3464f56e5628f5dfcc540
https://doi.org/10.1002/mus.880181311
https://doi.org/10.1002/mus.880181311
Autor:
Yusuke Nakamura, Louise C Strong, Pierre Laurent-Puig, Katherine Falls, Sylviane Olschwang, Rémy Salmon, Barbara Weiffenbach, Gilles Thomas, Anne Vassal, Roland Parc, Lemuel Herrera, Thomas Melot
Publikováno v:
Gastroenterology. 101:154-160
Familial adenomatous polyposis is a rare disease inherited in a Mendelian dominant fashion. It is characterized by the occurrence of more than 100 adenomatous polyps in the large bowels of affected individuals. The genetic defect responsible for aden
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc151ced6058576766ceedb6b1e82c38
https://doi.org/10.1016/0016-5085(91)90472-w
https://doi.org/10.1016/0016-5085(91)90472-w
Autor:
Kathleen M. Falls, Jeannette McMahon, John J. Wasmuth, Linda V. Hall, Helen Donis-Keller, Vicky L. Funanage, Barbara Weiffenbach, Angela Bricker
Publikováno v:
Genomics. 10:173-185
A genetic map of human chromosome 5 that contains 60 restriction fragment length polymorphism (RFLP) loci in one linkage group has been constructed. Segregation data using these markers and 40 large multigenerational families supplied by the Centre d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ba183b55841311d9f476b1404717500
https://doi.org/10.1016/0888-7543(91)90498-4
https://doi.org/10.1016/0888-7543(91)90498-4
Autor:
Alix Weaver, Joseph Biederman, Jean A. Frazier, Thomas J. Spencer, Jun Sakai, Timothy E. Wilens, Monica P. Chu, Stephen V. Faraone, Barbara Weiffenbach, Mario Cleves, Tim Keith
Publikováno v:
American Journal of Psychiatry. 156:768-770
OBJECTIVE: Family, twin, and adoption studies show attention deficit hyperactivity disorder (ADHD) to have a substantial genetic component, and some studies have reported an association between ADHD and the dopamine D4 (DRD4) gene. METHOD: The author
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b60d571f08f3af852cfce9cdeaf4942b
https://doi.org/10.1176/ajp.156.5.768
https://doi.org/10.1176/ajp.156.5.768
Autor:
John A. Phillips, Kenneth K. Kidd, Kimberly J. Maness, Barbara Weiffenbach, James F. Battey, Marshall L. Summar, Thomas C. Gravius, Carmella M. Castiglione
Publikováno v:
Molecular Endocrinology. 4:947-950
The structural genes for human prepro-arginine-vasopressin-neurophysin II (prepro-AVP-NPII; ARVP) locus and prepro-oxytocin-neurophysin-I (prepro-OT-NPI; OT) locus are closely linked separated by only 12 kilobasepairs of DNA. These two loci have been
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb6925a6d6e21230dbb1dc5616e35798
https://doi.org/10.1210/mend-4-6-947
https://doi.org/10.1210/mend-4-6-947