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Titolo:
Association study of the NF1 gene and autistic disorder
Autore:
Mbarek, O; Marouillat, S; Martineau, J; Barthelemy, C; Muh, JP; Andres, C;
Indirizzi:
Fac Med Tours, INSERM, U316, Lab Biochim & Biol Mol, F-37032 Tours, FranceFac Med Tours Tours France F-37032 him & Biol Mol, F-37032 Tours, France Serv Univ Explorat Fonct & Neurophysiol Pedopsych, INSERM, U316, Tours, France Serv Univ Explorat Fonct & Neurophysiol Pedopsych Tours France , France
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 6, volume: 88, anno: 1999,
pagine: 729 - 732
SICI:
0148-7299(199912)88:6<729:ASOTNG>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
PSYCHIATRIC-DISORDERS; NEUROFIBROMATOSIS; POLYMORPHISM; DELETIONS;
Keywords:
autistic disorder; neurofibromatosis; neurofibromin; microsatellite; association study;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
17
Recensione:
Indirizzi per estratti:
Indirizzo: Andres, C Fac Med Tours, INSERM, U316, Lab Biochim & Biol Mol, BP 3223, F-37032 Tours, France Fac Med Tours BP 3223 Tours France F-37032 -37032 Tours, France
Citazione:
O. Mbarek et al., "Association study of the NF1 gene and autistic disorder", AM J MED G, 88(6), 1999, pp. 729-732

Abstract

Neurofibromatosis type 1 (NF1) is increased about 150-fold in autistic patients, The aim of this study was to test for an association between the NF1locus and autistic disorder, The allele distributions of three markers of the NF1 gene were studied in 85 autistic patients and 90 controls, No differences in allele distributions were observed. However, we found a new allele (allele 5) of the GXAlu marker in four autistic patients, Allele 5 was absent in a larger control population (213 individuals). The patients with allele 5 had a more severe clinical picture, mainly in the fields of motilityand tonus, Our preliminary results suggest that the NF1 region is not a major susceptibility locus for autism. However, the GXAlu marker of the NF1 gene appears as a possible candidate for a susceptibility locus in a small subgroup of severely affected autistic patients. Am. J, Med. Genet, (Neuropsychiatr. Genet.) 88:729-732, 1999, (C) 1999 Wiley-Liss, Inc.

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Documento generato il 27/01/20 alle ore 02:19:01