267 related articles for article (PubMed ID: 10805343)
1. 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]
2. 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]
3. 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]
4. 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]
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. 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. 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]
8. 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]
9. [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]
10. 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]
11. 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]
12. 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]
13. Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome.
Charman T; Neilson TC; Mash V; Archer H; Gardiner MT; Knudsen GP; McDonnell A; Perry J; Whatley SD; Bunyan DJ; Ravn K; Mount RH; Hastings RP; Hulten M; Orstavik KH; Reilly S; Cass H; Clarke A; Kerr AM; Bailey ME
Eur J Hum Genet; 2005 Oct; 13(10):1121-30. PubMed ID: 16077736
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
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. 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]
18. 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]
19. 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]
20. 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]
[Next] [New Search]