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Titolo:
Fragile X syndrome: A review of the molecular and clinical features
Autore:
Feldman, GL; Monaghan, KG;
Indirizzi:
Henry Ford Hosp, Dept Med Genet, Detroit, MI 48202 USA Henry Ford Hosp Detroit MI USA 48202 ept Med Genet, Detroit, MI 48202 USA
Titolo Testata:
JOURNAL OF CLINICAL LIGAND ASSAY
fascicolo: 4, volume: 21, anno: 1998,
pagine: 424 - 431
SICI:
1081-1672(199824)21:4<424:FXSARO>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
FMR-I LOCUS; MENTAL-RETARDATION; CGG-REPEAT; TRINUCLEOTIDE EXPANSION; ABNORMAL METHYLATION; AFFECTED MALES; FULL MUTATION; NORMAL SIZE; CPG ISLAND; GENE;
Keywords:
fragile X syndrome; methylation; trinucleotide repeat; triplet amplification; Xq27.3; FMR-1; FRAXA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
75
Recensione:
Indirizzi per estratti:
Indirizzo: Feldman, GL Henry Ford Hosp, Dept Med Genet, 2799 W Grand Blvd, Detroit, MI 48202 USA Henry Ford Hosp 2799 W Grand Blvd Detroit MI USA 48202 202 USA
Citazione:
G.L. Feldman e K.G. Monaghan, "Fragile X syndrome: A review of the molecular and clinical features", J CLIN LIG, 21(4), 1998, pp. 424-431

Abstract

Fragile X syndrome (X-linked mental retardation associated with the Xq27 fragile site; McKusick no. 309550; Martin-Bell syndrome) is the most common inherited form of mental retardation in humans. The syndrome is characterized by mental retardation of variable severity and distinctive physical and behavioral characteristics that affect both males and females. Fragile X syndrome results from a complex interaction between alterations in the lengthof a trinucleotide repeat and changes in the expression of a gene, called FMR-1 (fragile X mental retardation). Fragile X syndrome results when a mutation in the FMR-1 gene turns off production of FR IR-I protein. The topicsdiscussed in this article include: 1) historical overview; 2) the phenotype of the syndrome; 3) molecular studies; 4) inheritance patterns; 5) currently available tests for diagnosing fragile X syndrome; 6) other X-linked fragile sites associated with mental retardation; and 7) recommendations for testing.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/04/20 alle ore 12:37:43