Výsledky vyhledávání - "Hagar Kalinsky"

Usher syndrome in the Samaritans: Strengths and limitations of using inbred isolated populations to identify genes causing recessive disorders

Autor: Batsheva Bonne-Tamir, Arne M. Nystuen, A. Adato, M. Korostishevsky, Val C. Sheffield, Hagar Kalinsky, Anne E. Kwitek-Black, E. Seroussi

Publikováno v: American Journal of Physical Anthropology. 104:193-200

We have previously reported significant linkage between markers on 11q13.5 and Usher syndrome type 1 (USH1B) in a large Samaritan kindred. USH1B is an autosomal recessive disease characterized by profound congenital sensorineural deafness, vestibular

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8f6f44804b3b772301b2310b808a0a05
https://doi.org/10.1002/(sici)1096-8644(199710)104:2<193::aid-ajpa5>3.0.co

Zobrazit plný text záznamu

Genetic Mapping of the Gene for Usher Syndrome: Linkage Analysis in a Large Samaritan Kindred

Autor: Batsheva Bonne-Tamir, S. Weiss, Victor Godel, Ruth Beker, Michael Korostishevsky, Hagar Kalinsky, Eyal Seroussi

Publikováno v: Genomics. 20:36-42

Usher syndrome is a group of autosomal recessive disorders associated with congenital sensorineural deafness and progressive visual loss due to retinitis pigmentosa. Sixteen members of the small inbred Samaritan isolate with autosomal recessive deafn

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd096b628b468f686fb1a38b1bf28b0b
https://doi.org/10.1006/geno.1994.1124

Zobrazit plný text záznamu

Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups

Autor: Hagar Kalinsky, Adina Funes, Ruth Gershoni-Baruch, Batsheva Bonne-Tamir, Yehuda Pel-Or, Alina Zeldin, M. Korostishevsky, Lindsay A. Farrer

Publikováno v: Human mutation. 11(2)

We characterized microsatellite marker haplotypes and identified mutations in members of 19 ethnically diverse Israeli families affected by Wilson disease (WD). Eighteen unique haplotypes were derived from allelic combinations for four marker loci sp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6cd98da34f8cd83d5a91c4fb9424a79d
https://pubmed.ncbi.nlm.nih.gov/9482578

Zobrazit plný text záznamu

Homozygosity by descent for a rare mutation in the myophosphorylase gene is associated with variable phenotypes in a Druze family with McArdle disease

Autor: Menachem Sadeh, Ying Zhao, Sudha Iyengar, Hagar Kalinsky, M. Korostishevsky, Batsheva Bonne-Tamir, Kenneth K. Kidd, S. Weiss

Publikováno v: Journal of medical genetics. 34(5)

We examined a large consanguineous Druze family with McArdle disease for mutations in the glycogen myophosphorylase (PYGM) gene. All affected subjects were autozygous for a single G to A transition that abolishes the 5' consensus splice site in the f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::591bedf21cd91405ea718a699bfb722c
https://pubmed.ncbi.nlm.nih.gov/9152836

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání