172 related articles for article (PubMed ID: 11313755)
1. A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease.
Rosenberg C; Wouters CH; Szuhai K; Dorland R; Pearson P; Poll-The BT; Colombijn RM; Breuning M; Lindhout D
Eur J Hum Genet; 2001 Mar; 9(3):171-7. PubMed ID: 11313755
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome.
Takahashi S; Ohinata J; Makita Y; Suzuki N; Araki A; Sasaki A; Murono K; Tanaka H; Fujieda K
Clin Genet; 2008 Mar; 73(3):257-61. PubMed ID: 18190595
[TBL] [Abstract][Full Text] [Related]
6. Reduced proportion of Purkinje cells expressing paternally derived mutant Mecp2308 allele in female mouse cerebellum is not due to a skewed primary pattern of X-chromosome inactivation.
Watson CM; Pelka GJ; Radziewic T; Shahbazian MD; Christodoulou J; Williamson SL; Tam PP
Hum Mol Genet; 2005 Jul; 14(13):1851-61. PubMed ID: 15888476
[TBL] [Abstract][Full Text] [Related]
7. Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers.
Knudsen GP; Neilson TC; Pedersen J; Kerr A; Schwartz M; Hulten M; Bailey ME; Orstavik KH
Eur J Hum Genet; 2006 Nov; 14(11):1189-94. PubMed ID: 16823396
[TBL] [Abstract][Full Text] [Related]
8. [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]
9. 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]
10. An explanation for another familial case of Rett syndrome: maternal germline mosaicism.
Venâncio M; Santos M; Pereira SA; Maciel P; Saraiva JM
Eur J Hum Genet; 2007 Aug; 15(8):902-4. PubMed ID: 17440498
[TBL] [Abstract][Full Text] [Related]
11. Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease.
Villard L; Lévy N; Xiang F; Kpebe A; Labelle V; Chevillard C; Zhang Z; Schwartz CE; Tardieu M; Chelly J; Anvret M; Fontès M
J Med Genet; 2001 Jul; 38(7):435-42. PubMed ID: 11432961
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. [X chromosome inactivation patterns in patients with Rett syndrome and their mothers and the parental origin of the priority inactive X chromosome].
Jiang SL; Bao XH; Song FY; Pan H; Li MR; Wu XR
Zhonghua Er Ke Za Zhi; 2006 Sep; 44(9):648-52. PubMed ID: 17217653
[TBL] [Abstract][Full Text] [Related]
14. X-Chromosome inactivation ratios affect wild-type MeCP2 expression within mosaic Rett syndrome and Mecp2-/+ mouse brain.
Braunschweig D; Simcox T; Samaco RC; LaSalle JM
Hum Mol Genet; 2004 Jun; 13(12):1275-86. PubMed ID: 15115765
[TBL] [Abstract][Full Text] [Related]
15. X chromosome inactivation patterns in brain in Rett syndrome: implications for the disease phenotype.
Gibson JH; Williamson SL; Arbuckle S; Christodoulou J
Brain Dev; 2005 Jun; 27(4):266-70. PubMed ID: 15862188
[TBL] [Abstract][Full Text] [Related]
16. Altered methylation pattern of the G6 PD promoter in Rett syndrome.
Huppke P; Bohlander S; Krämer N; Laccone F; Hanefeld F
Neuropediatrics; 2002 Apr; 33(2):105-8. PubMed ID: 12075494
[TBL] [Abstract][Full Text] [Related]
17. Rett syndrome: the complex nature of a monogenic disease.
Renieri A; Meloni I; Longo I; Ariani F; Mari F; Pescucci C; Cambi F
J Mol Med (Berl); 2003 Jun; 81(6):346-54. PubMed ID: 12750821
[TBL] [Abstract][Full Text] [Related]
18. Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
Philippe C; Villard L; De Roux N; Raynaud M; Bonnefond JP; Pasquier L; Lesca G; Mancini J; Jonveaux P; Moncla A; Chelly J; Bienvenu T
Eur J Med Genet; 2006; 49(1):9-18. PubMed ID: 16473305
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
