Zobrazeno 1 - 10
of 72
pro vyhledávání: '"R, Shomrat"'
Publikováno v:
Molecular Genetics and Metabolism. 76:157-161
A boy with adrenal hypoplasia congenita (AHC) and multiple pituitary hormone deficiency (MPHD), without mutations in the DAX1 or SF1 genes, is described. The association of AHC and MPHD has not been previously reported.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::480344617b1cb74df8234cedc04b93e4
https://doi.org/10.1016/s1096-7192(02)00029-x
https://doi.org/10.1016/s1096-7192(02)00029-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:
Harefuah. 136(4)
Muir-Torre syndrome is a relatively rare cutaneous manifestation of hereditary nonpolypous colorectal cancer (HNPCC). This autosomal dominant syndrome is characterized by a combination of sebaceous gland and malignant visceral tumors. The common site
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dc4c29ea07ca317e33025dc00af27472
https://pubmed.ncbi.nlm.nih.gov/10914216
https://pubmed.ncbi.nlm.nih.gov/10914216
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
Publikováno v:
Gut; December 1, 1999, Vol. 45 Issue: 6 p829-33, 5p
Publikováno v:
Israel journal of medical sciences. 22(3-4)
A pilot project to detect neural tube defects (NTD) of the fetus by maternal serum alpha-fetoprotein (MSAFP) screening of women in early pregnancy was initiated in Tel Aviv in 1982 at the instigation of the Israel Ministry of Health. The program was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1a1a31d9d7291851bd315f9436b36b79
https://pubmed.ncbi.nlm.nih.gov/2427475
https://pubmed.ncbi.nlm.nih.gov/2427475
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