143 related articles for article (PubMed ID: 20207612)
1. Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in 24 sporadic patients with Rett syndrome in China.
Zhu X; Li M; Pan H; Bao X; Zhang J; Wu X
J Child Neurol; 2010 Jul; 25(7):842-8. PubMed ID: 20207612
[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. Molecular characteristics of Chinese patients with Rett syndrome.
Zhang X; Bao X; Zhang J; Zhao Y; Cao G; Pan H; Zhang J; Wei L; Wu X
Eur J Med Genet; 2012 Dec; 55(12):677-81. PubMed ID: 22982301
[TBL] [Abstract][Full Text] [Related]
4. Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.
Ravn K; Roende G; Duno M; Fuglsang K; Eiklid KL; Tümer Z; Nielsen JB; Skjeldal OH
Orphanet J Rare Dis; 2011 Aug; 6():58. PubMed ID: 21878110
[TBL] [Abstract][Full Text] [Related]
5. [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]
6. 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]
7. 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]
8. Familial cases and male cases with MECP2 mutations.
Zhang Q; Zhao Y; Bao X; Luo J; Zhang X; Li J; Wei L; Wu X
Am J Med Genet B Neuropsychiatr Genet; 2017 Jun; 174(4):451-457. PubMed ID: 28394482
[TBL] [Abstract][Full Text] [Related]
9. MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning.
Zahorakova D; Lelkova P; Gregor V; Magner M; Zeman J; Martasek P
J Hum Genet; 2016 Jul; 61(7):617-25. PubMed ID: 26984561
[TBL] [Abstract][Full Text] [Related]
10. [Genetic features and mechanism of Rett syndrome in Chinese population].
Zhang X; Zhao Y; Bao X; Zhang J; Cao G; Wu X
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Feb; 31(1):1-5. PubMed ID: 24510551
[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. 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]
13. 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]
14. 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]
15. What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?
Zhang J; Bao X; Cao G; Jiang S; Zhu X; Lu H; Jia L; Pan H; Fehr S; Davis M; Leonard H; Ravine D; Wu X
Clin Genet; 2012 Dec; 82(6):526-33. PubMed ID: 22182064
[TBL] [Abstract][Full Text] [Related]
16. [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]
17. Rett syndrome in a 47,XXX patient with a de novo MECP2 mutation.
Hammer S; Dorrani N; Hartiala J; Stein S; Schanen NC
Am J Med Genet A; 2003 Oct; 122A(3):223-6. PubMed ID: 12966522
[TBL] [Abstract][Full Text] [Related]
18. Novel non-identical MECP2 mutations in Rett syndrome family: a rare presentation.
Khajuria R; Gupta N; Sapra S; Gulati S; Ghosh M; Kalra V; Kabra M
Brain Dev; 2012 Jan; 34(1):28-31. PubMed ID: 21300488
[TBL] [Abstract][Full Text] [Related]
19. Very mild cases of Rett syndrome with skewed X inactivation.
Huppke P; Maier EM; Warnke A; Brendel C; Laccone F; Gärtner J
J Med Genet; 2006 Oct; 43(10):814-6. PubMed ID: 16690727
[TBL] [Abstract][Full Text] [Related]
20. MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother.
Dayer AG; Bottani A; Bouchardy I; Fluss J; Antonarakis SE; Haenggeli CA; Morris MA
Brain Dev; 2007 Jan; 29(1):47-50. PubMed ID: 16844334
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]