scholarly journals Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications for the disease

2001 ◽  
Vol 38 (7) ◽  
pp. 435-442 ◽  
Author(s):  
L. Villard
Keyword(s):  
Rett Syndrome ◽  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Familial Cases ◽  
Mecp2 Mutation

Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers

2006 ◽  
Vol 14 (11) ◽  
pp. 1189-1194 ◽  
Author(s):  
Gun Peggy S Knudsen ◽  
Tracey C S Neilson ◽  
June Pedersen ◽  
Alison Kerr ◽  
Marianne Schwartz ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation

Influence of MECP2 Gene Mutation and X-Chromosome Inactivation on the Rett Syndrome Phenotype

2004 ◽  
Vol 19 (7) ◽  
pp. 503-508 ◽  
Author(s):  
Jong Hee Chae ◽  
Hee Hwang ◽  
Yong Seung Hwang ◽  
Hee Jung Cheong ◽  
Ki Joong Kim
Keyword(s):  
Gene Mutation ◽  
Rett Syndrome ◽  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Mecp2 Gene

X chromosome-inactivation patterns in patients with Rett syndrome

1998 ◽  
Vol 102 (3) ◽  
pp. 319-321 ◽  
Author(s):  
A. C. Victorino Krepischi ◽  
Fernando Kok ◽  
P. Guimarães Otto
Keyword(s):  
Rett Syndrome ◽  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation

scholarly journals Familial cases of point mutations in the XIST promoter reveal a correlation between CTCF binding and pre-emptive choices of X chromosome inactivation

2005 ◽  
Vol 14 (7) ◽  
pp. 953-965 ◽  
Author(s):  
Elena M. Pugacheva ◽  
Vijay Kumar Tiwari ◽  
Ziedulla Abdullaev ◽  
Alexander A. Vostrov ◽  
Patrick T. Flanagan ◽  
...  
Keyword(s):  
X Chromosome ◽  
Point Mutations ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Ctcf Binding ◽  
Familial Cases ◽  
Xist Promoter

Patterns of X chromosome inactivation in the rett syndrome

1990 ◽  
Vol 12 (1) ◽  
pp. 131-135 ◽  
Author(s):  
Huda Y Zoghbi ◽  
Alan K Percy ◽  
Rebecca J Schultz ◽  
Carolyn Fill
Keyword(s):  
Rett Syndrome ◽  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation

scholarly journals X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Clara Xiol ◽  
◽  
Silvia Vidal ◽  
Ainhoa Pascual-Alonso ◽  
Laura Blasco ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation
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