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Titolo:
Guidelines for reporting clinical features in cases with MECP2 mutations
Autore:
Kerr, AM; Nomura, Y; Armstrong, D; Anvret, M; Belichenko, PV; Budden, S; Cass, H; Christodoulou, J; Clarke, A; Ellaway, C; dEsposito, M; Francke, U; Hulten, M; Julu, P; Leonard, H; Naidu, S; Schanen, C; Webb, T; Engerstrom, IW; Yamashita, Y; Segawa, M;
Indirizzi:
Gartnavel Royal Hosp, Dept Psychol Med, Glasgow G12 0XH, Lanark, Scotland Gartnavel Royal Hosp Glasgow Lanark Scotland G12 0XH XH, Lanark, Scotland Segawa Neurol Clin Children, Chiyoda Ku, Tokyo 1010062, Japan Segawa Neurol Clin Children Tokyo Japan 1010062 Ku, Tokyo 1010062, Japan Baylor Coll Med, Dept Pathol, Houston, TX 77030 USA Baylor Coll Med Houston TX USA 77030 , Dept Pathol, Houston, TX 77030 USA Karolinska Inst, Stockholm, Sweden Karolinska Inst Stockholm SwedenKarolinska Inst, Stockholm, Sweden Inst Brain Res, Moscow 107120, Russia Inst Brain Res Moscow Russia 107120 nst Brain Res, Moscow 107120, Russia Oregon Hlth Sci Univ, Portland, OR 97201 USA Oregon Hlth Sci Univ Portland OR USA 97201 i Univ, Portland, OR 97201 USA Great Ormond St Hosp Children, London WC1N 3JH, England Great Ormond St Hosp Children London England WC1N 3JH WC1N 3JH, England Childrens Hosp Westmead, Dept Paediat & Child Hlth, Sydney, NSW, AustraliaChildrens Hosp Westmead Sydney NSW Australia lth, Sydney, NSW, Australia Univ Wales Coll Med, Dept Med Genet, Cardiff CF4 4XW, S Glam, Wales Univ Wales Coll Med Cardiff S Glam Wales CF4 4XW f CF4 4XW, S Glam, Wales Stanford Univ, Sch Med, Howard Hughes Med Inst, Stanford, CA 94305 USA Stanford Univ Stanford CA USA 94305 ghes Med Inst, Stanford, CA 94305 USA Stanford Univ, Sch Med, CNR Inst Genet & Biophys, Stanford, CA 94305 USA Stanford Univ Stanford CA USA 94305 net & Biophys, Stanford, CA 94305 USA Univ Warwick, Dept Biol Sci, Coventry CV4 7AL, W Midlands, England Univ Warwick Coventry W Midlands England CV4 7AL 7AL, W Midlands, England Cent Middlesex Hosp, London NW10 7NS, England Cent Middlesex Hosp LondonEngland NW10 7NS sp, London NW10 7NS, England Kennedy Inst, Baltimore, MD 21205 USA Kennedy Inst Baltimore MD USA 21205Kennedy Inst, Baltimore, MD 21205 USA TVW Telethon Inst Child Hlth, Res & Disabil Serv Commiss, W Perth, WA, Australia TVW Telethon Inst Child Hlth W Perth WA Australia W Perth, WA, Australia Univ Calif Los Angeles, Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA Univ Calif Los Angeles Los Angeles CA USA 90095 Los Angeles, CA 90095 USA Birmingham Maternity Hosp, Dept Clin Genet, Birmingham B15 2TG, W Midlands, England Birmingham Maternity Hosp Birmingham W Midlands England B15 2TG , England Rett Ctr, SE-93223 Froson, Sweden Rett Ctr Froson Sweden SE-93223Rett Ctr, SE-93223 Froson, Sweden Kurume Univ, Sch Med, Dept Pediat & Child Hlth, Fukuoka 8300011, Japan Kurume Univ Fukuoka Japan 8300011 t & Child Hlth, Fukuoka 8300011, Japan
Titolo Testata:
BRAIN & DEVELOPMENT
fascicolo: 4, volume: 23, anno: 2001,
pagine: 208 - 211
SICI:
0387-7604(200107)23:4<208:GFRCFI>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
RETT-SYNDROME; DISORDER; MALES; GENE;
Keywords:
Rett syndrome; MECP2 mutations; brain development;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
20
Recensione:
Indirizzi per estratti:
Indirizzo: Kerr, AM Gartnavel Royal Hosp, Dept Psychol Med, Glasgow G12 0XH, Lanark, Scotland Gartnavel Royal Hosp Glasgow Lanark Scotland G12 0XH k, Scotland
Citazione:
A.M. Kerr et al., "Guidelines for reporting clinical features in cases with MECP2 mutations", BRAIN DEVEL, 23(4), 2001, pp. 208-211

Abstract

An international group recommends that papers relating phenotypes to genotypes involving mutations in the X chromosome gene MECP2 should provide a minimum data set reporting the range of disturbances frequently encountered in Rett Syndrome, A simple scoring system is suggested which will facilitatecomparison among the various clinical profiles. Features are described which should prompt screening for MECP2 mutations. (C) 2001 Elsevier Science B. V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/01/20 alle ore 16:10:57