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Titolo:
Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3
Autore:
Ophoff, RA; DeYoung, J; Service, SK; Joose, M; Caffo, NA; Sandkuijl, LA; Terwindt, GM; Haan, J; van den Maagdenberg, AMJM; Jen, J; Baloh, RW; Barilla-LaBarca, ML; Saccone, NL; Atkinson, JP; Ferrari, MD; Freimer, NB; Frants, RR;
Indirizzi:
Leiden Univ, Med Ctr, Dept Human & Clin Genet, NL-2333 AL Leiden, Netherlands Leiden Univ Leiden Netherlands NL-2333 AL NL-2333 AL Leiden, Netherlands Leiden Univ, Med Ctr, Dept Neurol, NL-2333 AL Leiden, Netherlands Leiden Univ Leiden Netherlands NL-2333 AL NL-2333 AL Leiden, Netherlands Univ Calif San Francisco, Dept Psychiat, Neurogenet Lab, San Francisco, CA94143 USA Univ Calif San Francisco San Francisco CA USA 94143 rancisco, CA94143 USA Appl Biosyst Inc, Foster City, CA 94404 USA Appl Biosyst Inc Foster City CA USA 94404 Inc, Foster City, CA 94404 USA Rijnland Hosp, Leiderdorp, Netherlands Rijnland Hosp Leiderdorp Netherlands land Hosp, Leiderdorp, Netherlands Univ Calif Los Angeles, Dept Neurol, Los Angeles, CA 90024 USA Univ Calif Los Angeles Los Angeles CA USA 90024 Los Angeles, CA 90024 USA Washington Univ, Sch Med, Dept Med, St Louis, MO 63110 USA Washington Univ St Louis MO USA 63110 d, Dept Med, St Louis, MO 63110 USA Washington Univ, Sch Med, Dept Psychiat, St Louis, MO 63110 USA WashingtonUniv St Louis MO USA 63110 pt Psychiat, St Louis, MO 63110 USA
Titolo Testata:
AMERICAN JOURNAL OF HUMAN GENETICS
fascicolo: 2, volume: 69, anno: 2001,
pagine: 447 - 453
SICI:
0002-9297(200108)69:2<447:HVRCVA>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
MULTILOCUS LINKAGE ANALYSIS; BRAIN-TUMOR; RECOMBINATION; PREVALENCE; MIMICKING; MIGRAINE; REGION;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
15
Recensione:
Indirizzi per estratti:
Indirizzo: Frants, RR Leiden Univ, Med Ctr, Dept Human & Clin Genet, Wassenaarseweg 72, NL-2333 AL Leiden, Netherlands Leiden Univ Wassenaarseweg 72 Leiden Netherlands NL-2333 AL ds
Citazione:
R.A. Ophoff et al., "Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3", AM J HU GEN, 69(2), 2001, pp. 447-453

Abstract

We performed a genomewide search for linkage in an extended Dutch family with hereditary vascular retinopathy associated with migraine and Raynaud phenomenon. Patients with vascular retinopathy are characterized by microangiopathy of the retina, accompanied by microaneurysms and telangiectatic capillaries. The genome search, using a high throughput capillary sequencer, revealed significant evidence of linkage to chromosome 3p21.1-p21.3 (maximum pairwise LOD score 5.25, with D3S1578). Testing of two additional families that had a similar phenotype, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke, revealed linkage to the same chromosomal region (combined maximum LOD score 6.30, with D3S1588). Haplotype analysis of all three families defined a 3-cM candidate region between D3S1578 and D3S3564. Our study shows that three autosomal dominant vasculopathy syndromes with prominent cerebroretinal manifestations map to the same 3-cM interval on 3p21, suggesting a common locus.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/03/20 alle ore 15:03:12