- ►bmj.com H Gill, JP Cheadle, J Maynard, N Fleming, S … - British Medical Journal, 2003 - jmg.bmj.com We looked for pathogenic MECP2 mutations in 11 families with an index case
affected by Rett syndrome (RTT), together with a sib or other relative affected
by RTT or a less specific developmental disturbance. In one family, we ... Cited by 16 - Related articles - BL Direct - All 6 versions
- ►bmj.com [PDF] L Villard, N Levy, F Xiang, A Kpebe, V … - British Medical Journal, 2001 - jmg.bmj.com Segregation of a totally skewed pattern of X ... Laurent Villard, Nicolas
Lévy, Fengqing Xiang, Arlette Kpebe, Véronique Labelle, Christophe Chevillard,
Zhiping Zhang, Charles E Schwartz, Marc Tardieu, Jamel Chelly, Maria ... Cited by 41 - Related articles - BL Direct - All 7 versions
RE Amir, V Reid Sutton, IB Van den Veyver - Journal of child neurology, 2005 - jcn.sagepub.com Rett syndrome is associated with significant neurodevelopmental disability and a
typical presymptomatic phase during which an opportunity might exist for
preventive treatment that improves long- term prognosis. It is, therefore, ... Cited by 7 - Related articles - BL Direct - All 5 versions
Y Yaron, B Ben Zeev, R Shomrat, D Bercovich, … - Human Mutation, 2002 - interscience.wiley.com This report describes molecular analysis of the MECP2 gene in 37 Israeli
patients suspected of having Rett syndrome (RTT). The patients were from various
Jewish ethnic groups and from Arabic origin. Of the 17 patients with ... Cited by 21 - Related articles - BL Direct - All 2 versions
[CITATION] Rett syndrome. GeneReviews, University of Washington, Seattle, 2004
MI Tejada Mínguez - Revista de Neurología, 2006 - europa.sim.ucm.es Introducción. El síndrome de Rett (SR) se describió por primera vez en 1966 y
en el año 1999 se descubrió que estaba asociado con mutaciones en el gen
MECP2. En estos cinco últimos años se han escrito más de 500 artículos ... Cited by 3 - Related articles - Cached - All 2 versions
F Mari, R Caselli, S Russo, F Cogliati, F … - Clinical genetics, 2005 - interscience.wiley.com Rett syndrome is an X-linked neurodevelopmental dominant disorder that affects
almost exclusively girls. The vast majority of cases are sporadic and are caused
by de novo mutations in the MECP2 gene, located in Xq28. Only few familial ... Cited by 15 - Related articles - All 5 versions
- ►imb-jena.de [PDF] V Bourdon, C Philippe, A Grandemenge, K … - Annales de genetique, 2001 - Elsevier Mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene have been
found to be a cause of Rett syndrome (RTT). Mutation screening was based on
various techniques including denaturing gradient gel electrophoresis, ... Cited by 15 - Related articles - BL Direct - All 8 versions
E Smeets, P Terhal, P Casaer, A Peters, A … - American Journal of Medical Genetics Part A, 2005 - rettsearch.org E. Smeets,1,2* P. Terhal,3 P. Casaer,4 A. Peters,5 A. Midro,6 E. Schollen,1 K.
van Roozendaal,2 U. Moog,2 G. Matthijs,1 J. Herbergs,2 H. Smeets,2 L. Curfs,2,7
C. Schrander-Stumpel,2,7 and JP Fryns1,2 1Centre of Human Genetics, ... Cited by 36 - Related articles - View as HTML - All 6 versions
HA Heilstedt, MD Shahbazian, B Lee - American journal of medical genetics, 2002 - interscience.wiley.com It is also possible that your web browser is not configured or not able to
display style sheets. In this case, although the visual presentation will be
degraded, the site should continue to be functional. We recommend using the ... Cited by 17 - Related articles - BL Direct - All 3 versions
