1184 related articles for article (PubMed ID: 21982064)
1. MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders.
Psoni S; Sofocleous C; Traeger-Synodinos J; Kitsiou-Tzeli S; Kanavakis E; Fryssira-Kanioura H
Brain Dev; 2012 Jun; 34(6):487-95. PubMed ID: 21982064
[TBL] [Abstract][Full Text] [Related]
2. Spectrum of MECP2 mutations in New Zealand Rett syndrome patients.
Raizis AM; Saleem M; MacKay R; George PM
N Z Med J; 2009 Jun; 122(1296):21-8. PubMed ID: 19652677
[TBL] [Abstract][Full Text] [Related]
3. Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation.
Tejada MI; Peñagarikano O; Rodriguez-Revenga L; Martinez-Bouzas C; García B; Bádenas C; Guitart M; Minguez M; García-Alegría E; Sanz-Parra A; Beristain E; Milá M
Clin Genet; 2006 Aug; 70(2):140-4. PubMed ID: 16879196
[TBL] [Abstract][Full Text] [Related]
4. Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations.
Temudo T; Oliveira P; Santos M; Dias K; Vieira J; Moreira A; Calado E; Carrilho I; Oliveira G; Levy A; Barbot C; Fonseca M; Cabral A; Dias A; Cabral P; Monteiro J; Borges L; Gomes R; Barbosa C; Mira G; Eusébio F; Santos M; Sequeiros J; Maciel P
Neurology; 2007 Apr; 68(15):1183-7. PubMed ID: 17420401
[TBL] [Abstract][Full Text] [Related]
5. Phenotypic and genotypic variability in four males with MECP2 gene sequence aberrations including a novel deletion.
Psoni S; Sofocleous C; Traeger-Synodinos J; Kitsiou-Tzeli S; Kanavakis E; Fryssira-Kanioura H
Pediatr Res; 2010 May; 67(5):551-6. PubMed ID: 20098342
[TBL] [Abstract][Full Text] [Related]
6. Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders.
Wong VC; Li SY
J Child Neurol; 2007 Dec; 22(12):1397-400. PubMed ID: 18174559
[TBL] [Abstract][Full Text] [Related]
7. MECP2 mutations in Serbian Rett syndrome patients.
Djarmati A; Dobricić V; Kecmanović M; Marsh P; Jancić-Stefanović J; Klein C; Djurić M; Romac S
Acta Neurol Scand; 2007 Dec; 116(6):413-9. PubMed ID: 17986102
[TBL] [Abstract][Full Text] [Related]
8. MECP2 mutations are an infrequent cause of mental retardation associated with neurological problems in male patients.
Moog U; Van Roozendaal K; Smeets E; Tserpelis D; Devriendt K; Buggenhout GV; Frijns JP; Schrander-Stumpel C
Brain Dev; 2006 Jun; 28(5):305-10. PubMed ID: 16376510
[TBL] [Abstract][Full Text] [Related]
9. Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients.
Santos M; Temudo T; Kay T; Carrilho I; Medeira A; Cabral H; Gomes R; Lourenço MT; Venâncio M; Calado E; Moreira A; Oliveira G; Maciel P
J Child Neurol; 2009 Jan; 24(1):49-55. PubMed ID: 19168818
[TBL] [Abstract][Full Text] [Related]
10. Associations between MeCP2 mutations, X-chromosome inactivation, and phenotype.
Hoffbuhr KC; Moses LM; Jerdonek MA; Naidu S; Hoffman EP
Ment Retard Dev Disabil Res Rev; 2002; 8(2):99-105. PubMed ID: 12112735
[TBL] [Abstract][Full Text] [Related]
11. Epilepsy in Rett syndrome---the experience of a National Rett Center.
Nissenkorn A; Gak E; Vecsler M; Reznik H; Menascu S; Ben Zeev B
Epilepsia; 2010 Jul; 51(7):1252-8. PubMed ID: 20491871
[TBL] [Abstract][Full Text] [Related]
12. Classic Rett syndrome in a boy with R133C mutation of MECP2.
Masuyama T; Matsuo M; Jing JJ; Tabara Y; Kitsuki K; Yamagata H; Kan Y; Miki T; Ishii K; Kondo I
Brain Dev; 2005 Sep; 27(6):439-42. PubMed ID: 16122633
[TBL] [Abstract][Full Text] [Related]
13. MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning.
Zahorakova D; Lelkova P; Gregor V; Magner M; Zeman J; Martasek P
J Hum Genet; 2016 Jul; 61(7):617-25. PubMed ID: 26984561
[TBL] [Abstract][Full Text] [Related]
14. Rett syndrome: from the gene to the disease.
Matijevic T; Knezevic J; Slavica M; Pavelic J
Eur Neurol; 2009; 61(1):3-10. PubMed ID: 18948693
[TBL] [Abstract][Full Text] [Related]
15. Social impairments in Rett syndrome: characteristics and relationship with clinical severity.
Kaufmann WE; Tierney E; Rohde CA; Suarez-Pedraza MC; Clarke MA; Salorio CF; Bibat G; Bukelis I; Naram D; Lanham DC; Naidu S
J Intellect Disabil Res; 2012 Mar; 56(3):233-47. PubMed ID: 21385260
[TBL] [Abstract][Full Text] [Related]
16. X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.
Xinhua Bao ; Shengling Jiang ; Fuying Song ; Hong Pan ; Meirong Li ; Wu XR
J Child Neurol; 2008 Jan; 23(1):22-5. PubMed ID: 18184939
[TBL] [Abstract][Full Text] [Related]
17. Methyl-CpG binding protein 2 gene (MECP2) variations in Japanese patients with Rett syndrome: pathological mutations and polymorphisms.
Fukuda T; Yamashita Y; Nagamitsu S; Miyamoto K; Jin JJ; Ohmori I; Ohtsuka Y; Kuwajima K; Endo S; Iwai T; Yamagata H; Tabara Y; Miki T; Matsuishi T; Kondo I
Brain Dev; 2005 Apr; 27(3):211-7. PubMed ID: 15737703
[TBL] [Abstract][Full Text] [Related]
18. Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene.
Bartholdi D; Klein A; Weissert M; Koenig N; Baumer A; Boltshauser E; Schinzel A; Berger W; Mátyás G
Clin Genet; 2006 Apr; 69(4):319-26. PubMed ID: 16630165
[TBL] [Abstract][Full Text] [Related]
19. Novel mutations in the C-terminal region of the MECP2 gene in Tunisian Rett syndrome patients.
Fendri-Kriaa N; Rouissi A; Ghorbel R; Mkaouar-Rebai E; Belguith N; Gouider-Khouja N; Fakhfakh F
J Child Neurol; 2012 May; 27(5):564-8. PubMed ID: 21940684
[TBL] [Abstract][Full Text] [Related]
20. Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation.
Yamada Y; Miura K; Kumagai T; Hayakawa C; Miyazaki S; Matsumoto A; Kurosawa K; Nomura N; Taniguchi H; Sonta SI; Yamanaka T; Wakamatsu N
Hum Mutat; 2001 Sep; 18(3):253. PubMed ID: 11524741
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
