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Titolo:
Molecular genetics of human microcephaly
Autore:
Mochida, GH; Walsh, CA;
Indirizzi:
Harvard Univ, Sch Med, Beth Israel Deaconess Med Ctr, Dept Neurol,Div Neurogenet, Boston, MA 02115 USA Harvard Univ Boston MA USA 02115 rol,Div Neurogenet, Boston, MA 02115 USA Harvard Univ, Sch Med, Beth Israel Deaconess Med Ctr, Clin Investigator Training Program, Boston, MA 02115 USA Harvard Univ Boston MA USA 02115 r Training Program, Boston, MA 02115 USA Massachusetts Gen Hosp, Dept Neurol, Pediat Neurol Unit, Boston, MA 02114 USA Massachusetts Gen Hosp Boston MA USA 02114 rol Unit, Boston, MA 02114 USA
Titolo Testata:
CURRENT OPINION IN NEUROLOGY
fascicolo: 2, volume: 14, anno: 2001,
pagine: 151 - 156
SICI:
1350-7540(200104)14:2<151:MGOHM>2.0.ZU;2-W
Fonte:
ISI
Lingua:
ENG
Soggetto:
LINKED MENTAL-RETARDATION; SIMPLIFIED GYRAL PATTERN; NIJMEGEN BREAKAGE SYNDROME; VARIABLY SHORT STATURE; MUTATIONAL SPECTRUM; RETT-SYNDROME; MAPS; DNA; PROTEIN; LOCUS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
40
Recensione:
Indirizzi per estratti:
Indirizzo: Walsh, CA Beth Israel Deaconess Med Ctr, Harvard Inst Med, Dept Neurol, Room 816,77 Ave Louis Pasteur, Boston, MA 02115 USA Beth Israel Deaconess MedCtr Room 816,77 Ave Louis Pasteur Boston MA USA 02115
Citazione:
G.H. Mochida e C.A. Walsh, "Molecular genetics of human microcephaly", CURR OP NEU, 14(2), 2001, pp. 151-156

Abstract

Human microcephaly comprises a heterogeneous group of conditions that are characterized by a failure of normal brain growth. Microcephaly can be caused by many injurious or degenerative conditions, or by developmental malformations in which the growth of the brain is impaired as a result of defectsin pattern formation, cell proliferation, cell survival, cell differentiation, or cell growth. These latter forms of congenital microcephaly are frequently inherited, usually as recessive traits, and are associated with mental retardation and sometimes epilepsy, Some of the genes that cause congenital microcephaly are likely to control crucial aspects of neural development, and may also be involved in the evolutionary explosion of cortical size that characterizes primates. There has recently been a rapid advance in theuse of genetic mapping techniques to identify genetic loci responsible formicrocephaly, Although several loci have been mapped, the condition is clearly genetically and clinically heterogeneous, curt Opin Neurol 14:151-156 (C) 2001 Lippincott Williams & Wilkins.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 24/01/20 alle ore 12:57:07