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Titolo:
The molecular basis and clinical management of ataxia telangiectasia
Autore:
Spacey, SD; Gatti, RA; Bebb, G;
Indirizzi:
Inst Neurol, London WC1N 3BG, England Inst Neurol London England WC1N 3BG nst Neurol, London WC1N 3BG, England Univ Calif Los Angeles, Sch Med, Dept Pathol, Los Angeles, CA 90024 USA Univ Calif Los Angeles Los Angeles CA USA 90024 Los Angeles, CA 90024 USA Univ British Columbia, Dept Med, Vancouver, BC, Canada Univ British Columbia Vancouver BC Canada ept Med, Vancouver, BC, Canada British Columbia Canc Res Ctr, Dept Adv Therapeut, Vancouver, BC V5Z 1L3, Canada British Columbia Canc Res Ctr Vancouver BC Canada V5Z 1L3 V5Z 1L3, Canada
Titolo Testata:
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
fascicolo: 3, volume: 27, anno: 2000,
pagine: 184 - 191
SICI:
0317-1671(200008)27:3<184:TMBACM>2.0.ZU;2-E
Fonte:
ISI
Lingua:
ENG
Soggetto:
NIJMEGEN BREAKAGE SYNDROME; CHROMOSOMAL INSTABILITY DISORDER; BREAST-CANCER PATIENTS; DOUBLE-STRAND BREAKS; ATM-DEFICIENT MICE; IONIZING-RADIATION; DNA-DAMAGE; GAMMA-IRRADIATION; NERVOUS-SYSTEM; GENE ATM;
Tipo documento:
Review
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
91
Recensione:
Indirizzi per estratti:
Indirizzo: Spacey, SD Inst Neurol, Queen Sq, London WC1N 3BG, England Inst Neurol Queen Sq London England WC1N 3BG WC1N 3BG, England
Citazione:
S.D. Spacey et al., "The molecular basis and clinical management of ataxia telangiectasia", CAN J NEUR, 27(3), 2000, pp. 184-191

Abstract

The unique combination of phenotypic manifestations seen in ataxia telangiectasia (AT) has intrigued neurologists, oncologists, radiation biologists and immunologists for several decades. initially, the primary care givers of AT patients are often pediatricians but neurologists will inevitably become involved in their care. Over the last few years great strides have been made in understanding the genetic basis of this disease but useful therapeutic interventions are still not available. In this article, we review the clinical features and the current understanding of the pathophysiology of the syndrome. In addition, we address issues related to genetic counseling, prenatal diagnosis, screening and implications for AT heterozygotes.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/12/20 alle ore 01:17:51