236 related articles for article (PubMed ID: 12112732)
1. Genetic basis of Rett syndrome.
Van den Veyver IB; Zoghbi HY
Ment Retard Dev Disabil Res Rev; 2002; 8(2):82-6. PubMed ID: 12112732
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.
Laccone F; Huppke P; Hanefeld F; Meins M
Hum Mutat; 2001 Mar; 17(3):183-90. PubMed ID: 11241840
[TBL] [Abstract][Full Text] [Related]
5. Influence of mutation type and location on phenotype in 123 patients with Rett syndrome.
Huppke P; Held M; Hanefeld F; Engel W; Laccone F
Neuropediatrics; 2002 Apr; 33(2):63-8. PubMed ID: 12075485
[TBL] [Abstract][Full Text] [Related]
6. [Clinical and molecular genetic findings in four girls with Rett syndrome].
Deutscher K; Deutscher J; Bergmann L; Tefs K; Reichwald K; Schuster V
Klin Padiatr; 2002; 214(5):291-4. PubMed ID: 12235545
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Novel de novo nonsense mutation of MECP2 in a patient with Rett syndrome.
Kim SJ; Cook EH
Hum Mutat; 2000 Apr; 15(4):382-3. PubMed ID: 10737989
[TBL] [Abstract][Full Text] [Related]
9. [Analysis of the most frequent mutations in girls with Rett syndrome].
Rosipal R; Zeman J; Hadac J; Misovicová N; Nevsímalová S; Martásek P
Cas Lek Cesk; 2001 Aug; 140(15):473-6. PubMed ID: 11569169
[TBL] [Abstract][Full Text] [Related]
10. Preserved speech variant is allelic of classic Rett syndrome.
De Bona C; Zappella M; Hayek G; Meloni I; Vitelli F; Bruttini M; Cusano R; Loffredo P; Longo I; Renieri A
Eur J Hum Genet; 2000 May; 8(5):325-30. PubMed ID: 10854091
[TBL] [Abstract][Full Text] [Related]
11. Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy.
Bienvenu T; Souville I; Poirier K; Aquaviva C; Burglen L; Amiel J; Héron B; Kaminska A; Couvert P; Beldjord C; Chelly J
Hum Mutat; 2001 Sep; 18(3):251-2. PubMed ID: 11524737
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Somatic mosaicism for a MECP2 mutation associated with classic Rett syndrome in a boy.
Topçu M; Akyerli C; Sayi A; Törüner GA; Koçoğlu SR; Cimbiş M; Ozçelik T
Eur J Hum Genet; 2002 Jan; 10(1):77-81. PubMed ID: 11896459
[TBL] [Abstract][Full Text] [Related]
14. [Developmental disorder in girls due to Rett syndrome].
Pruissen DM; Sinke RJ; Terhal PA; Beemer FA; Peters AC
Ned Tijdschr Geneeskd; 2003 Aug; 147(32):1560-3. PubMed ID: 12942847
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. 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]
18. Influence of mutation type and X chromosome inactivation on Rett syndrome phenotypes.
Amir RE; Van den Veyver IB; Schultz R; Malicki DM; Tran CQ; Dahle EJ; Philippi A; Timar L; Percy AK; Motil KJ; Lichtarge O; Smith EO; Glaze DG; Zoghbi HY
Ann Neurol; 2000 May; 47(5):670-9. PubMed ID: 10805343
[TBL] [Abstract][Full Text] [Related]
19. Balanced X chromosome inactivation patterns in the Rett syndrome brain.
Shahbazian MD; Sun Y; Zoghbi HY
Am J Med Genet; 2002 Aug; 111(2):164-8. PubMed ID: 12210344
[TBL] [Abstract][Full Text] [Related]
20. [Mutational analysis of MECP2 gene in Rett syndrome].
Pan H; Wang Y; Meng H; Bao X; Zhang Y; Shen Y; Wu X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Aug; 19(4):276-80. PubMed ID: 12170461
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]