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4. De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity and gynaecomastia. Kleefstra T; Yntema HG; Oudakker AR; Romein T; Sistermans E; Nillessen W; van Bokhoven H; de Vries BB; Hamel BC Clin Genet; 2002 May; 61(5):359-62. PubMed ID: 12081720 [TBL] [Abstract][Full Text] [Related]
5. The phenotypic consequences of MECP2 mutations extend beyond Rett syndrome. Hammer S; Dorrani N; Dragich J; Kudo S; Schanen C Ment Retard Dev Disabil Res Rev; 2002; 8(2):94-8. PubMed ID: 12112734 [TBL] [Abstract][Full Text] [Related]
6. MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism. Shibayama A; Cook EH; Feng J; Glanzmann C; Yan J; Craddock N; Jones IR; Goldman D; Heston LL; Sommer SS Am J Med Genet B Neuropsychiatr Genet; 2004 Jul; 128B(1):50-3. PubMed ID: 15211631 [TBL] [Abstract][Full Text] [Related]
7. No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients. Vourc'h P; Bienvenu T; Beldjord C; Chelly J; Barthélémy C; Müh JP; Andres C Eur J Hum Genet; 2001 Jul; 9(7):556-8. PubMed ID: 11464249 [TBL] [Abstract][Full Text] [Related]
8. Variation in exon 1 coding region and promoter of MECP2 in Rett syndrome and controls. Evans JC; Archer HL; Whatley SD; Kerr A; Clarke A; Butler R Eur J Hum Genet; 2005 Jan; 13(1):124-6. PubMed ID: 15367913 [TBL] [Abstract][Full Text] [Related]
9. MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics. Kleefstra T; Yntema HG; Nillesen WM; Oudakker AR; Mullaart RA; Geerdink N; van Bokhoven H; de Vries BB; Sistermans EA; Hamel BC Eur J Hum Genet; 2004 Jan; 12(1):24-8. PubMed ID: 14560307 [TBL] [Abstract][Full Text] [Related]
10. Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome. Amano K; Nomura Y; Segawa M; Yamakawa K J Hum Genet; 2000; 45(4):231-6. PubMed ID: 10944854 [TBL] [Abstract][Full Text] [Related]
11. Another patient with MECP2 mutation without classic Rett syndrome phenotype. Milani D; Pantaleoni C; D'Arrigo S; Selicorni A; Riva D Pediatr Neurol; 2005 May; 32(5):355-7. PubMed ID: 15866439 [TBL] [Abstract][Full Text] [Related]
12. Study of MECP2 gene in Rett syndrome variants and autistic girls. Zappella M; Meloni I; Longo I; Canitano R; Hayek G; Rosaia L; Mari F; Renieri A Am J Med Genet B Neuropsychiatr Genet; 2003 May; 119B(1):102-7. PubMed ID: 12707946 [TBL] [Abstract][Full Text] [Related]
13. 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]
15. MECP2 mutation in male patients with non-specific X-linked mental retardation. Orrico A; Lam C; Galli L; Dotti MT; Hayek G; Tong SF; Poon PM; Zappella M; Federico A; Sorrentino V FEBS Lett; 2000 Sep; 481(3):285-8. PubMed ID: 11007980 [TBL] [Abstract][Full Text] [Related]
16. A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome. Buschdorf JP; Strätling WH J Mol Med (Berl); 2004 Feb; 82(2):135-43. PubMed ID: 14618241 [TBL] [Abstract][Full Text] [Related]
17. Influence of MECP2 gene mutation and X-chromosome inactivation on the Rett syndrome phenotype. Chae JH; Hwang H; Hwang YS; Cheong HJ; Kim KJ J Child Neurol; 2004 Jul; 19(7):503-8. PubMed ID: 15526954 [TBL] [Abstract][Full Text] [Related]
18. Functional analyses of MeCP2 mutations associated with Rett syndrome using transient expression systems. Kudo S; Nomura Y; Segawa M; Fujita N; Nakao M; Dragich J; Schanen C; Tamura M Brain Dev; 2001 Dec; 23 Suppl 1():S165-73. PubMed ID: 11738866 [TBL] [Abstract][Full Text] [Related]
19. A mutation hot spot for nonspecific X-linked mental retardation in the MECP2 gene causes the PPM-X syndrome. Klauck SM; Lindsay S; Beyer KS; Splitt M; Burn J; Poustka A Am J Hum Genet; 2002 Apr; 70(4):1034-7. PubMed ID: 11885030 [TBL] [Abstract][Full Text] [Related]
20. Mutation analysis of the coding sequence of the MECP2 gene in infantile autism. Beyer KS; Blasi F; Bacchelli E; Klauck SM; Maestrini E; Poustka A; Hum Genet; 2002 Oct; 111(4-5):305-9. PubMed ID: 12384770 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]