Zobrazeno 1 - 10
of 107
pro vyhledávání: '"B. Weiffenbach"'
Publikováno v:
Musclenerve. Supplement. (2)
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=pmid________::7b2d4c7a26043204e6e7540d83cab7d6
https://pubmed.ncbi.nlm.nih.gov/23573587
https://pubmed.ncbi.nlm.nih.gov/23573587
Autor:
S. Ohta, D. Simon, J.H. Kurth, C.N. Hahn, B.K. May, M.C. Kurth, I. Rodriguez de Ledesma, Y.D. Patel, C. Steinlein, B.D. Harris, J.P. Banga, S. Mazan, B. Weiffenbach, D.S. Gallagher, O.M. Garson, J.E. Womack, Z. Tümer, H. Nishi, H.M. Kozman, E.J.M. Schuurman, T. Sasazuki, N. Aoki, A. Pellicer, H.A. Phillips, A.A.B. Bergen, G.J.B. van Ommen, J.C. Mulley, J.A. Padilla, A. Kato, C. Jeanpierre, N. Roeckel, A.P. Monaco, C. Rudduck, D. Sheer, T.A. Jones, E. Austruy, C. Junien, R. Espinosa, A.M. Ryan, G.R. Sutherland, J.-P. Bachellerie, Ca. Westbrook, M. Schmid, H. Lerach, E. Dietzsch, A. Rabasco, D.F. Callen, L. Sottrup-Jensen, M. Cohen-Salmon, T. Kristensen, M M Le Beau, S. Hirosawa, A.M. McGregor, J.J. Pérez-Regadera, E. Bakker, P. Laslo, J.L. Fernández-García, L.-H. Qu, M.C. Wapenaar, M. Dixon, L.M. Duncan, R.H. Martin, R.I. Barnes, A. Kimura, E.M. Bleeker-Wagemakers, A.M. Bowcock, S.A. Whitmore, N. Tommerup, B.B. Knowles, J. Santos, J.L. Omdahl, W.L. Neuman, M. Guttenbach, A.N. Silahtaroglu, P.S. Barnett, M.-G. Mattéi, L. Iannuzzi, Y. Nakamura, E. Baker, P.J. Diergaarde, G.P. Di Meo, M. Martínez-Trancón, S. Toyota
Publikováno v:
Cytogenetic and Genome Research. 62:I-IV
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9ae4abe1cf905a35dcd56eba4e3fd294
https://doi.org/10.1159/000133469
https://doi.org/10.1159/000133469
Autor:
M E, Brousseau, E J, Schaefer, J, Dupuis, B, Eustace, P, Van Eerdewegh, A L, Goldkamp, L M, Thurston, M G, FitzGerald, D, Yasek-McKenna, G, O'Neill, G P, Eberhart, B, Weiffenbach, J M, Ordovas, M W, Freeman, R H, Brown, J Z, Gu
Publikováno v:
Journal of lipid research. 41(3)
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=pmid________::e4bfc7a03dd1a9403e0ab1f61b0ebd45
https://pubmed.ncbi.nlm.nih.gov/10706591
https://pubmed.ncbi.nlm.nih.gov/10706591
Autor:
G L, Shaw, R T, Falk, J N, Frame, B, Weiffenbach, J C, Nesbitt, H I, Pass, N E, Caporaso, D T, Moir, M A, Tucker
Publikováno v:
Cancer epidemiology, biomarkersprevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 7(3)
Previous reports of the association of extensive debrisoquine metabolism, controlled by the cytochrome P450 CYP2D6, with increased lung cancer risk have been conflicting. We examined the hypothesis that genetic polymorphism at the CYP2D6 locus identi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::be1c24844dac30424caa334dc1d44c79
https://pubmed.ncbi.nlm.nih.gov/9521436
https://pubmed.ncbi.nlm.nih.gov/9521436
Publikováno v:
Annals of neurology. 43(3)
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=pmid________::ad0d300c8b2de4acfffecb9877539481
https://pubmed.ncbi.nlm.nih.gov/9506542
https://pubmed.ncbi.nlm.nih.gov/9506542
Autor:
S T, Winokur, U, Bengtsson, J C, Vargas, J J, Wasmuth, M R, Altherr, B, Weiffenbach, S J, Jacobsen
Publikováno v:
Human molecular genetics. 5(10)
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disease that has been linked to deletions within a tandem array of 3.2 kb repeats adjacent to the telomere of 4q. These repeats are also present in other locations i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5426999413359c201daf58a916af6ca3
https://pubmed.ncbi.nlm.nih.gov/9147656
https://pubmed.ncbi.nlm.nih.gov/9147656
Autor:
R, Tawil, J, Forrester, R C, Griggs, J, Mendell, J, Kissel, M, McDermott, W, King, B, Weiffenbach, D, Figlewicz
Publikováno v:
Annals of neurology. 39(6)
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=pmid________::664ca4bc49703388b06a3a05ca2cc59c
https://pubmed.ncbi.nlm.nih.gov/8651646
https://pubmed.ncbi.nlm.nih.gov/8651646
Publikováno v:
Musclenerve. Supplement. 2
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=pmid________::e940099b053473e9c1ec0e51e5335475
https://pubmed.ncbi.nlm.nih.gov/7739626
https://pubmed.ncbi.nlm.nih.gov/7739626
Autor:
S T, Winokur, B, Schutte, B, Weiffenbach, S S, Washington, D, McElligott, A, Chakravarti, J H, Wasmuth, M R, Altherr
Publikováno v:
American journal of human genetics. 53(4)
A physical map of 4q35 was constructed through radiation hybrid analysis of 134 clones generated from the cell line HHW416, a chromosome 4-only human-hamster somatic cell hybrid. This subtelomeric region contains the as-yet-unidentified gene responsi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b166b2433ef0e921b85c080061fe22fc
https://pubmed.ncbi.nlm.nih.gov/8213815
https://pubmed.ncbi.nlm.nih.gov/8213815
Autor:
B, Weiffenbach, R, Bagley, K, Falls, C, Hyser, D, Storvick, S J, Jacobsen, P, Schultz, J, Mendell, K, Willems van Dijk, E C, Milner
Publikováno v:
American journal of human genetics. 51(2)
The genetic locus for facioscapulohumeral muscular dystrophy (FSHD) has been mapped to chromosome 4. We have examined linkage to five chromosome 4q DNA markers in 22 multigenerational FSHD families. Multipoint linkage analyses of the segregation of f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ffb7786b9f68a2692cce5837a104a91a
https://pubmed.ncbi.nlm.nih.gov/1642240
https://pubmed.ncbi.nlm.nih.gov/1642240