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Titolo:
The female and the fragile X reviewed
Autore:
Kenneson, A; Warren, ST;
Indirizzi:
Emory Univ, Sch Med, Dept Biochem Genet & Pediat, Atlanta, GA 30322 USA Emory Univ Atlanta GA USA 30322 hem Genet & Pediat, Atlanta, GA 30322 USA Emory Univ, Sch Med, Hughes Med Inst, Atlanta, GA 30322 USA Emory Univ Atlanta GA USA 30322 d, Hughes Med Inst, Atlanta, GA 30322 USA
Titolo Testata:
SEMINARS IN REPRODUCTIVE MEDICINE
fascicolo: 2, volume: 19, anno: 2001,
pagine: 159 - 165
SICI:
1526-8004(200106)19:2<159:TFATFX>2.0.ZU;2-O
Fonte:
ISI
Lingua:
ENG
Soggetto:
PREMATURE OVARIAN FAILURE; TISSUE-SPECIFIC EXPRESSION; DE-NOVO DELETION; FMR1 CGG REPEAT; MENTAL-RETARDATION; CARRIER FEMALES; EARLY MENOPAUSE; FULL MUTATION; PSYCHIATRIC-DISORDERS; PREMUTATION CARRIERS;
Keywords:
fragile X syndrome; FMR1; FMRP; premature ovarian failure; trinucleotide repeat;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
102
Recensione:
Indirizzi per estratti:
Indirizzo: Warren, ST Emory Univ, Sch Med, Dept Biochem Genet & Pediat, 1510 Clifton Rd NE, Atlanta, GA 30322 USA Emory Univ 1510 Clifton Rd NE Atlanta GA USA 30322 GA 30322 USA
Citazione:
A. Kenneson e S.T. Warren, "The female and the fragile X reviewed", SEMIN REP M, 19(2), 2001, pp. 159-165

Abstract

Nearly 15 years ago, female carriers of the fragile X mental retardation syndrome were noted to have an increased incidence of tu in pregnancies. Since then, much evidence has accumulated supporting the notion of ovarian dysfunction in fragile X carriers, in the forms of increased dizygotic twinning and premature ovarian failure. However, despite a decade and a half of research regarding this association, the underlying mechanism remains a mystery. This article reviews the population-based studies that have examined this association and discusses possible reasons for the variations in results. In addition, results from more recent studies on endocrine function in fragile X carriers are discussed. These data, when considered in conjunction with our emerging understanding of the molecular biology of the fragile X gene (FMR1) and its protein product (FMRP), are beginning to elucidate possible mechanisms for the association between fragile X syndrome and ovarian dysfunction.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/01/20 alle ore 15:18:48