Zobrazeno 1 - 10
of 199
pro vyhledávání: '"C, Legum"'
Autor:
Jacques S. Beckmann, Carlos A. Garcia, M. de Visser, A. J. van der Kooi, J.-M. Burgunder, Bruno Eymard, Nathalie Bourg, Sylvie Marchand, C Legum, O Alibert, Charles E. Jackson, Isabelle Richard, Michel Fardeau
Publikováno v:
Neuromuscular disorders, 9(8), 555-563. Elsevier Limited
The autosomal progressive muscular dystrophies which are grouped together under the term limb girdle muscular dystrophies (LGMD) are diseases characterized by a progressive impairment of the proximal limb muscles and myopathic changes on electromyogr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e4836a37c270b5b51cfbe1cfa884f779
https://doi.org/10.1016/s0960-8966(99)00037-1
https://doi.org/10.1016/s0960-8966(99)00037-1
Autor:
Gabrielle J. Halpern, Nurit Magal, Hagit N. Baris, L. Levin, Valerie Drasinover, Mordechai Shohat, Wen-Hann Tan, C. Legum, Tamy Shohat
Publikováno v:
Clinical Genetics. 68:185-187
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d986b13a626154de6f3a8caad3966e3
https://doi.org/10.1111/j.1399-0004.2005.00462.x
https://doi.org/10.1111/j.1399-0004.2005.00462.x
Publikováno v:
Biomedicine & Pharmacotherapy. 48:359-364
Duchenne (DMD) and Becker (BMD) muscular dystrophy are allelic X-linked recessive diseases caused by a mutation in the dystrophin gene located on the short arm of chromosome X (Xp21). The dystrophin gene is the largest gene known in humans, extending
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::168c4450765759bde6a4333e25a12da2
https://doi.org/10.1016/0753-3322(94)90052-3
https://doi.org/10.1016/0753-3322(94)90052-3
Publikováno v:
Familial cancer. 1(2)
Familial adenomatous polyposis (FAP) is an uncommon, but widespread genetic disorder that develops multiple colonic adenomatous polyps and, if untreated, can lead to large bowel cancer. Little is known about its occurrence and characteristics in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b2b9d003c3d49a575e8bd2a6d1b70470
https://pubmed.ncbi.nlm.nih.gov/14574001
https://pubmed.ncbi.nlm.nih.gov/14574001
Publikováno v:
International Journal on Disability and Human Development. 3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7fcca8ac5c0537666cc32e43f59e6877
https://doi.org/10.1515/ijdhd.2002.3.1.3
https://doi.org/10.1515/ijdhd.2002.3.1.3
BACKGROUND—The phenotypic spectrum of familial adenomatous polyposis (FAP) varies from the classic appearance of hundreds of adenomatous colonic polyps in the young adult and early onset colorectal cancer, to the occurrence of sparse adenomas in th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0db0e52bfb44ac5592f2b0da16c81a5b
https://europepmc.org/articles/PMC1727742/
https://europepmc.org/articles/PMC1727742/
Publikováno v:
Prenatal diagnosis. 19(10)
Duchenne muscular dystrophy (DMD) is a relentless progressive disorder, leading to severe disability during childhood and death in adolescence or early adulthood. In most families, prenatal diagnosis is readily achieved by molecular detection of DNA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::25fd7b7d44294fc2424f8c0f4dc007de
https://pubmed.ncbi.nlm.nih.gov/10521816
https://pubmed.ncbi.nlm.nih.gov/10521816
Autor:
D, Barel, I J, Cohen, C, Mor, S, Stern, R, Shapiro, R, Shomrat, Y, Galanti, C, Legum, R, Zaizov, S, Avigad
Publikováno v:
Cancer letters. 132(1-2)
Turcot's syndrome is a rare heritable complex that is characterized by an association between a primary neuroepithelial tumor of the central nervous system and multiple colonic polyps. The aim of this study was to analyze genetic alterations in a cas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1f4da4b27a5c34b0c4418b938e691efb
https://pubmed.ncbi.nlm.nih.gov/10397462
https://pubmed.ncbi.nlm.nih.gov/10397462