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Titolo:
Aicardi-Goutieres syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease?
Autore:
Faure, S; Bordelais, I; Marquette, C; Rittey, C; Campos-Castello, J; Goutieres, F; Ponsot, G; Weissenbach, J; Lebon, P;
Indirizzi:
Hop St Vincent de Paul, F-75674 Paris, France Hop St Vincent de Paul Paris France F-75674 Paul, F-75674 Paris, France Genethon, CNRS URA 1922, Evry, France Genethon Evry FranceGenethon, CNRS URA 1922, Evry, France Sheffield Childrens Hosp, Sheffield, S Yorkshire, England Sheffield Childrens Hosp Sheffield S Yorkshire England orkshire, England Univ Madrid, Hosp San Carlos, Neuropediat Serv, Madrid 3, Spain Univ Madrid Madrid Spain 3 San Carlos, Neuropediat Serv, Madrid 3, Spain Hop Enfants Malades, Paris, France Hop Enfants Malades Paris FranceHop Enfants Malades, Paris, France Univ Paris 05, Fac Med Cochin, Paris, France Univ Paris 05 Paris FranceUniv Paris 05, Fac Med Cochin, Paris, France Hop St Vincent de Paul, F-75674 Paris, France Hop St Vincent de Paul Paris France F-75674 Paul, F-75674 Paris, France
Titolo Testata:
CLINICAL GENETICS
fascicolo: 2, volume: 56, anno: 1999,
pagine: 149 - 153
SICI:
0009-9163(199908)56:2<149:ASMRDG>2.0.ZU;2-5
Fonte:
ISI
Lingua:
ENG
Soggetto:
PROGRESSIVE FAMILIAL ENCEPHALOPATHY; CEREBROSPINAL-FLUID LYMPHOCYTOSIS; CENTRAL-NERVOUS-SYSTEM; BASAL GANGLIA; INTRACRANIAL CALCIFICATION; LAMELLAR ICHTHYOSIS; INTERFERON-ALPHA; GENE; LOCALIZATION; EXPRESSION;
Keywords:
Aicardi-Goutieres; heterogeneity; homozygosity mapping; interferon-alpha; virus;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
27
Recensione:
Indirizzi per estratti:
Indirizzo: Lebon, P Hop St Vincent de Paul, 82 Ave Denfert Rochereau, F-75674 Paris, France Hop St Vincent de Paul 82 Ave Denfert Rochereau Paris France F-75674
Citazione:
S. Faure et al., "Aicardi-Goutieres syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease?", CLIN GENET, 56(2), 1999, pp. 149-153

Abstract

Aicardi-Goutieres syndrome (AGS) is a severe progressive familial encephalopathy, which is usually diagnosed shortly after birth. Using the principleof homozygosity mapping, genome-wide screening of five consanguineous families was performed to search for a homozygous region shared by all affectedindividuals. A total of 364 markers with an average spacing of 9.9 cM weregenotyped, but no homozygous region common to all affected individuals could be found. Regions of homozygosity in affected sibs could only be identified within each family individually. This may reflect genetic heterogeneity, possibly related to clinical heterogeneity, since several syndromes are clinically difficult to distinguish from AGS. Involvement of a small number of genes and/or of an external factor, such as infection, may also explain the absence of a homozygous region common to all affected individuals.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 27/11/20 alle ore 10:40:26