Výsledky vyhledávání

Genetic linkage studies of ataxia-telangiectasia: phenotypic blood markers

Autor: Ra, Gatti, Rc, Davis, Daniel Weeks, Nj, Jaspers, Rs, Sparkes, Lange K

Publikováno v: Europe PubMed Central

We have tested thirty-two phenotypic blood markers on sixteen families with with ataxia-telangiectasia (AT) in an attempt to identify the chromosomal location of the AT gene(s). Although at least five complementation groups have been defined, it is n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::db9a4a7d4742e0045500b19c680b3ca1
https://pubmed.ncbi.nlm.nih.gov/3502989

Zobrazit plný text záznamu

Mapping and positional cloning of common idiopathic generalized epilepsies: juvenile myoclonus epilepsy and childhood absence epilepsy

Autor: Antonio V. Delgado-Escueta, Mt, Medina, Jm, Serratosa, Ip, Castroviejo, Mn, Gee, Weissbecker K, Bw, Westling, Cy, Fong, Me, Alonso, Cordova S, Shah P, Khan S, Sainz J, Rubio-Donnadieu F, Rs, Sparkes

Publikováno v: Europe PubMed Central

Among the 40 to 100 million persons with epilepsy worldwide and the 2 to 2.5 million persons with epilepsies in the United States, approximately 50% have generalized epilepsies. Among all epilepsies, the most common are juvenile myoclonus epilepsy (J

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::f8ca5f34d5467479ffb7326cfe87de65
http://europepmc.org/abstract/med/10514826

Zobrazit plný text záznamu

The human and rodent intestinal fatty acid binding protein genes. A comparative analysis of their structure, expression, and linkage relationships

Autor: David Sweetser, Eh, Birkenmeier, Ij, Klisak, Zollman S, Rs, Sparkes, Mohandas T, Aj, Lusis, Ji, Gordon

Publikováno v: Europe PubMed Central

Intestinal fatty acid binding protein (I-FABP) is believed to participate in the uptake, intracellular metabolism, and/or transport of long chain fatty acids within enterocytes. The 15.1-kDA rodent proteins is a member of a family of low Mr cytoplasm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::c310293591ce9dbbf0556135e9daa4ea
http://europepmc.org/abstract/med/2824476

Zobrazit plný text záznamu

The cellular retinol binding protein II gene. Sequence analysis of the rat gene, chromosomal localization in mice and humans, and documentation of its close linkage to the cellular retinol binding protein gene

Autor: La, Demmer, Eh, Birkenmeier, David Sweetser, Ms, Levin, Zollman S, Rs, Sparkes, Mohandas T, Aj, Lusis, Ji, Gordon

Publikováno v: Europe PubMed Central

Cellular retinol binding protein II (CRBP II) is an abundant, 134-residue protein present in the small intestinal epithelium. It is thought to participate in the uptake and/or intracellular metabolism of vitamin A. We have isolated and sequenced the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a567ddd212d434a2d246580117e69fc0
http://europepmc.org/abstract/med/3029082

Zobrazit plný text záznamu

Akademický článek

Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. 1993.

Autor: Tsukada S, Saffran DC, Rawlings DJ, Parolini O, Allen RC, Klisak I, Sparkes RS, Kubagawa H, Mohandas T, Quan S, Belmont JW, Cooper MD, Conley ME, Witte ON

Publikováno v: Journal of immunology (Baltimore, Md. : 1950) [J Immunol] 2012 Apr 01; Vol. 188 (7), pp. 2936-47.

Zobrazit plný text záznamu

Akademický článek

Novel single-base deletional mutation in major intrinsic protein (MIP) in autosomal dominant cataract.

Autor: Geyer DD; Department of Ophthalmology, Rocky Mountain Lions Eye Institute, Denver, Colorado, USA., Spence MA, Johannes M, Flodman P, Clancy KP, Berry R, Sparkes RS, Jonsen MD, Isenberg SJ, Bateman JB

Publikováno v: American journal of ophthalmology [Am J Ophthalmol] 2006 Apr; Vol. 141 (4), pp. 761-3.

Zobrazit plný text záznamu

Akademický článek

TCL-1, MTCP-1 and TML-1 gene expression profile in non-leukemic clonal proliferations associated with ataxia-telangiectasia.

Autor: Chun HH; Department of Pathology, School of Medicine, University of California at Los Angeles, Los Angeles, CA 90095-1732, USA., Castellví-Bel S, Wang Z, Nagourney RA, Plaeger S, Becker-Catania SG, Naeim F, Sparkes RS, Gatti RA

Publikováno v: International journal of cancer [Int J Cancer] 2002 Feb 20; Vol. 97 (6), pp. 726-31.

Zobrazit plný text záznamu

Akademický článek

Haplotypes at the DRD2 locus and severe alcoholism.

Autor: Noble EP; Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, California, USA. epnoble@ucla.edu, Zhang X, Ritchie TL, Sparkes RS

Publikováno v: American journal of medical genetics [Am J Med Genet] 2000 Oct 09; Vol. 96 (5), pp. 622-31.

Zobrazit plný text záznamu

Akademický článek

A new locus for autosomal dominant cataract on chromosome 12q13.

Autor: Bateman JB; Department of Ophthalmology, Rocky Mountain Lions Eye Institute, The Children's Hospital, University of Colorado School of Medicine, Denver, USA. bronwyn.bateman@uchsc.edu, Johannes M, Flodman P, Geyer DD, Clancy KP, Heinzmann C, Kojis T, Berry R, Sparkes RS, Spence MA

Publikováno v: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2000 Aug; Vol. 41 (9), pp. 2665-70.

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání