Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation

Clinical Severity ◽

Chromosome Inactivation ◽

Mecp2 Mutation

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

European Journal of Human Genetics ◽

10.1038/sj.ejhg.5200600 ◽

2001 ◽

Vol 9 (3) ◽

pp. 178-184 ◽

Cited By ~ 45

Author(s):

Jytte Bieber Nielsen ◽

Karen Friis Henriksen ◽

Claus Hansen ◽

Asli Silahtaroglu ◽

Marianne Schwartz ◽

...

Keyword(s):

Rett Syndrome ◽

X Chromosome ◽

High Frequency ◽

Clinical Severity ◽

Chromosome Inactivation ◽

Inactivation Pattern

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

Journal of Medical Genetics ◽

10.1136/jmg.38.7.435 ◽

2001 ◽

Vol 38 (7) ◽

pp. 435-442 ◽

Cited By ~ 38

Author(s):

L. Villard

Keyword(s):

Rett Syndrome ◽

X Chromosome ◽

Chromosome Inactivation ◽

Familial Cases ◽

Mecp2 Mutation

Skewed X chromosome inactivation failed to explain the normal phenotype of a carrier female with MECP2 mutation resulting in Rett syndrome

Clinical Genetics ◽

10.1111/j.1399-0004.2007.00944.x ◽

2008 ◽

Vol 73 (3) ◽

pp. 257-261 ◽

Cited By ~ 17

Author(s):

S Takahashi ◽

J Ohinata ◽

Y Makita ◽

N Suzuki ◽

A Araki ◽

...

Keyword(s):

Rett Syndrome ◽

X Chromosome ◽

Chromosome Inactivation ◽

Normal Phenotype ◽

Carrier Female ◽

Mecp2 Mutation ◽

Skewed X Chromosome Inactivation

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

European Journal of Human Genetics ◽

10.1038/sj.ejhg.5201682 ◽

2006 ◽

Vol 14 (11) ◽

pp. 1189-1194 ◽

Cited By ~ 29

Author(s):

Gun Peggy S Knudsen ◽

Tracey C S Neilson ◽

June Pedersen ◽

Alison Kerr ◽

Marianne Schwartz ◽

...

Keyword(s):

Rett Syndrome ◽

X Chromosome ◽

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

Journal of Child Neurology ◽

10.1177/08830738040190070501 ◽

2004 ◽

Vol 19 (7) ◽

pp. 503-508 ◽

Cited By ~ 14

Author(s):

Jong Hee Chae ◽

Hee Hwang ◽

Yong Seung Hwang ◽

Hee Jung Cheong ◽

Ki Joong Kim

Keyword(s):

Gene Mutation ◽

Rett Syndrome ◽

X Chromosome ◽

Chromosome Inactivation ◽

Mecp2 Gene

X chromosome-inactivation patterns in patients with Rett syndrome

Human Genetics ◽

10.1007/s004390050698 ◽

1998 ◽

Vol 102 (3) ◽

pp. 319-321 ◽

Cited By ~ 20

Author(s):

A. C. Victorino Krepischi ◽

Fernando Kok ◽

P. Guimarães Otto

Keyword(s):

Rett Syndrome ◽

X Chromosome ◽

X-Chromosome Inactivation Patterns Are Unbalanced and Affect the Phenotypic Outcome in a Mouse Model of Rett Syndrome

The American Journal of Human Genetics ◽

10.1086/382228 ◽

2004 ◽

Vol 74 (3) ◽

pp. 511-520 ◽

Cited By ~ 88

Author(s):

Juan I. Young ◽

Huda Y. Zoghbi

Keyword(s):

Mouse Model ◽

Rett Syndrome ◽

X Chromosome ◽

Patterns of X chromosome inactivation in the rett syndrome

Brain and Development ◽

10.1016/s0387-7604(12)80194-x ◽

1990 ◽

Vol 12 (1) ◽

pp. 131-135 ◽

Cited By ~ 82

Author(s):

Huda Y Zoghbi ◽

Alan K Percy ◽

Rebecca J Schultz ◽

Carolyn Fill

Keyword(s):

Rett Syndrome ◽

X Chromosome ◽

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

Scientific Reports ◽

10.1038/s41598-019-48385-w ◽

2019 ◽

Vol 9 (1) ◽

Cited By ~ 1

Author(s):

Clara Xiol ◽

◽

Silvia Vidal ◽

Ainhoa Pascual-Alonso ◽

Laura Blasco ◽

...

Keyword(s):

Rett Syndrome ◽

X Chromosome ◽

The role of X-chromosome inactivation in the manifestation of Rett syndrome

Brain and Development ◽

10.1016/s0387-7604(01)00362-x ◽

2001 ◽

Vol 23 ◽

pp. S182-S185 ◽

Cited By ~ 7

Author(s):

Nobuo Takagi

Keyword(s):

Rett Syndrome ◽

X Chromosome ◽