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Titolo:
Aicardi-Goutieres syndrome display genetic heterogeneity with one locus (AGS1) on chromosome 3p21
Autore:
Crow, YJ; Jackson, AP; Roberts, E; van Beusekom, E; Barth, P; Corry, P; Ferrie, CD; Hamel, BCJ; Jayatunga, R; Karbani, G; Kalmanchey, R; Kelemen, A; King, M; Kumar, R; Livingstone, J; Massey, R; McWilliam, R; Meager, A; Rittey, C; Stephenson, JBP; Tolmie, JL; Verrips, A; Voit, T; van Bokhoven, H; Brunner, HG; Woods, CG;
Indirizzi:
Univ Leeds, St James Univ Hosp, Mol Med Unit, Leeds LS9 7TF, W Yorkshire, England Univ Leeds Leeds W Yorkshire England LS9 7TF S9 7TF, W Yorkshire, England Univ Leeds, St James Univ Hosp, Dept Clin Genet, Leeds LS9 7TF, W Yorkshire, England Univ Leeds Leeds W Yorkshire England LS9 7TF S9 7TF, W Yorkshire, England Leeds Gen Infirm, Dept Paediat Neurol, Leeds, W Yorkshire, England Leeds Gen Infirm Leeds W Yorkshire England , Leeds, W Yorkshire, England Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp Nijmegen Netherlands NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp, Dept Child Neurol, NL-6500 HB Nijmegen, Netherlands Univ Nijmegen Hosp Nijmegen Netherlands NL-6500 HB Nijmegen, Netherlands Univ Amsterdam, Dept Paediat, NL-1012 WX Amsterdam, Netherlands Univ Amsterdam Amsterdam Netherlands NL-1012 WX X Amsterdam, Netherlands St Lukes Hosp, Dept Paediat, Bradford, W Yorkshire, England St Lukes HospBradford W Yorkshire England radford, W Yorkshire, England Sandwell Hosp, Dept Paediat, W Bromwich, England Sandwell Hosp W Bromwich England osp, Dept Paediat, W Bromwich, England Semmelweis Univ Med, Dept Pediat, H-1085 Budapest, Hungary Semmelweis UnivMed Budapest Hungary H-1085 at, H-1085 Budapest, Hungary Childrens Hosp, Dept Paediat Neurol, Dublin, Ireland Childrens Hosp Dublin Ireland osp, Dept Paediat Neurol, Dublin, Ireland Sheffield Childrens Hosp, Clin Genet Unit, Sheffield, S Yorkshire, EnglandSheffield Childrens Hosp Sheffield S Yorkshire England orkshire, England Sheffield Childrens Hosp, Dept Paediat Neurol, Sheffield, S Yorkshire, England Sheffield Childrens Hosp Sheffield S Yorkshire England orkshire, England Hull Royal Infirm, Dept Paediat, Hull HU3 2JZ, N Humberside, England Hull Royal Infirm Hull N Humberside England HU3 2JZ N Humberside, England Yorkhill Hosp, Dept Paediat Neurol, Glasgow, Lanark, Scotland Yorkhill Hosp Glasgow Lanark Scotland Neurol, Glasgow, Lanark, Scotland Yorkhill Hosp, Dept Clin Genet, Glasgow, Lanark, Scotland Yorkhill Hosp Glasgow Lanark Scotland n Genet, Glasgow, Lanark, Scotland Natl Inst Biol Stand & Controls, S Mimms, Herts, England Natl Inst Biol Stand & Controls S Mimms Herts England ms, Herts, England Univ Essen Gesamthsch, Dept Paediat, Essen, Germany Univ Essen GesamthschEssen Germany thsch, Dept Paediat, Essen, Germany
Titolo Testata:
AMERICAN JOURNAL OF HUMAN GENETICS
fascicolo: 1, volume: 67, anno: 2000,
pagine: 213 - 221
SICI:
0002-9297(200007)67:1<213:ASDGHW>2.0.ZU;2-4
Fonte:
ISI
Lingua:
ENG
Soggetto:
PROGRESSIVE FAMILIAL ENCEPHALOPATHY; CEREBROSPINAL-FLUID LYMPHOCYTOSIS; INFECTION-LIKE SYNDROME; CENTRAL-NERVOUS-SYSTEM; INTRACRANIAL CALCIFICATION; INTERFERON-ALPHA; BASAL GANGLIA; INTRAUTERINE INFECTION; LINKAGE ANALYSIS; 2 SIBLINGS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
37
Recensione:
Indirizzi per estratti:
Indirizzo: Crow, YJ Univ Leeds, St James Univ Hosp, Mol Med Unit, Clin Sci Bldg, Leeds LS9 7TF, W Yorkshire, England Univ Leeds Clin Sci Bldg Leeds W Yorkshire England LS9 7TF ngland
Citazione:
Y.J. Crow et al., "Aicardi-Goutieres syndrome display genetic heterogeneity with one locus (AGS1) on chromosome 3p21", AM J HU GEN, 67(1), 2000, pp. 213-221

Abstract

We have studied 23 children from 13 families with a clinical diagnosis of Aicardi-Goutieres syndrome. Affected individuals had developed an early-onset progressive encephalopathy that was characterized by a normal head circumference at birth, basal ganglia calcification, negative viral studies, andabnormalities of cerebrospinal fluid comprising either raised white cell counts and/or raised levels of interferon-alpha. By means of genomewide linkage analysis, a maximum-heterogeneity LOD score of 5.28 was reached at marker D3S3563, with alpha =.48, where alpha is the proportion of families showing linkage. Our data suggest the existence of locus heterogeneity in Aicardi-Goutieres syndrome and highlight potential difficulties in the differentiation of this condition from pseudo-TORCH (toxoplasmosis, rubella, cytomegalovirus, and herpes simplex virus types 1 and 2) syndrome.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/11/20 alle ore 09:56:00