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Titolo:
FRAGILE-X-SYNDROME - MOLECULAR AND CLINICAL INSIGHTS AND TREATMENT ISSUES
Autore:
HAGERMAN RJ;
Indirizzi:
CHILDRENS HOSP,CHILD DEV UNIT,B140,1056 E 19TH AVE DENVER CO 80218 UNIV COLORADO,HLTH SCI CTR,DEPT PEDIAT DENVER CO 80262
Titolo Testata:
Western journal of medicine
fascicolo: 2, volume: 166, anno: 1997,
pagine: 129 - 137
SICI:
0093-0415(1997)166:2<129:F-MACI>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
DE-NOVO DELETION; MENTAL-RETARDATION; POSTERIOR-FOSSA; CGG REPEAT; FMR-1 GENE; PHENOTYPIC-EXPRESSION; PRECOCIOUS PUBERTY; FEMALE CARRIERS; FULL MUTATION; MALES;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
123
Recensione:
Indirizzi per estratti:
Citazione:
R.J. Hagerman, "FRAGILE-X-SYNDROME - MOLECULAR AND CLINICAL INSIGHTS AND TREATMENT ISSUES", Western journal of medicine, 166(2), 1997, pp. 129-137

Abstract

The fragile X syndrome is the most common inherited cause of mental retardation that is known, The prevalence of mental retardation from this syndrome ranges from 1 in 1,250 to 1 in 4,000 in the general population, although the prevalence of female carriers has been reported to be as high as 1 in 259, The discovery of the FMR1 gene mutation in 1991 has simplified diagnosis, enhanced our understanding of the spectrumof involvement in the fragile X syndrome, and stimulated research regarding the normal function of the FMR1 protein in brain development, Advances have also occurred in the treatment of the fragile X syndrome,and psychopharmacologic and educational interventions are reviewed here.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/04/20 alle ore 20:59:12