233 related articles for article (PubMed ID: 11313764)
1. Parental origin of de novo MECP2 mutations in Rett syndrome.
Girard M; Couvert P; Carrié A; Tardieu M; Chelly J; Beldjord C; Bienvenu T
Eur J Hum Genet; 2001 Mar; 9(3):231-6. PubMed ID: 11313764
[TBL] [Abstract][Full Text] [Related]
2. [Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in fifteen sporadic cases with Rett syndrome].
Zhu XW; Pan H; Li MR; Bao XH; Zhang JJ; Wu XR
Zhonghua Er Ke Za Zhi; 2009 Aug; 47(8):565-9. PubMed ID: 19951486
[TBL] [Abstract][Full Text] [Related]
3. Mutations and polymorphisms in the human methyl CpG-binding protein MECP2.
Miltenberger-Miltenyi G; Laccone F
Hum Mutat; 2003 Aug; 22(2):107-15. PubMed ID: 12872250
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. MECP2 mutations in Danish patients with Rett syndrome: high frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern.
Nielsen JB; Henriksen KF; Hansen C; Silahtaroglu A; Schwartz M; Tommerup N
Eur J Hum Genet; 2001 Mar; 9(3):178-84. PubMed ID: 11313756
[TBL] [Abstract][Full Text] [Related]
8. Association by guilt: identification of DLX5 as a target for MeCP2 provides a molecular link between genomic imprinting and Rett syndrome.
Bapat S; Galande S
Bioessays; 2005 Jul; 27(7):676-80. PubMed ID: 15954098
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. [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]
12. 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]
13. [Analysis of the parental origin of MECP2 mutations in patients with Rett syndrome].
Zhang JJ; Bao XH; Cao GN; Jiang SL; Zhu XW; Lu HM; Jia LF; Pan H; Wu XR
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2010 Apr; 27(2):121-4. PubMed ID: 20376788
[TBL] [Abstract][Full Text] [Related]
14. MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.
Trappe R; Laccone F; Cobilanschi J; Meins M; Huppke P; Hanefeld F; Engel W
Am J Hum Genet; 2001 May; 68(5):1093-101. PubMed ID: 11309679
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome.
Laccone F; Jünemann I; Whatley S; Morgan R; Butler R; Huppke P; Ravine D
Hum Mutat; 2004 Mar; 23(3):234-44. PubMed ID: 14974082
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Closely related Swedish Rett Syndrome females - none with MECP2 mutation revealed.
Xiang F; Stenbom Y; Anvret M; Hagberg B
Neuropediatrics; 2001 Aug; 32(4):217-8. PubMed ID: 11571704
[TBL] [Abstract][Full Text] [Related]
19. Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene.
Schwartzman JS; Bernardino A; Nishimura A; Gomes RR; Zatz M
Neuropediatrics; 2001 Jun; 32(3):162-4. PubMed ID: 11521215
[TBL] [Abstract][Full Text] [Related]
20. Histone modifications in Rett syndrome lymphocytes: a preliminary evaluation.
Kaufmann WE; Jarrar MH; Wang JS; Lee YJ; Reddy S; Bibat G; Naidu S
Brain Dev; 2005 Aug; 27(5):331-9. PubMed ID: 16023547
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]