ATRX syndrome in a girl with a heterozygous mutation in theATRX Zn finger domain and a totally skewed X-inactivation pattern

2006 ◽  
Vol 140A (20) ◽  
pp. 2212-2215 ◽  
Author(s):  
Catherine Badens ◽  
Nathalie Martini ◽  
Sébastien Courrier ◽  
Vincent DesPortes ◽  
Renaud Touraine ◽  
...  
Keyword(s):  
X Inactivation ◽  
Heterozygous Mutation ◽  
Inactivation Pattern ◽  
Skewed X Inactivation

scholarly journals Incorporation of 5-ethynyl-2′-deoxyuridine (EdU) as a novel strategy for identification of the skewed X inactivation pattern in balanced and unbalanced X-rearrangements

2015 ◽  
Vol 135 (2) ◽  
pp. 185-192 ◽  
Author(s):  
Luiza Sisdelli ◽  
Angela Cristina Vidi ◽  
Mariana Moysés-Oliveira ◽  
Adriana Di Battista ◽  
Adriana Bortolai ◽  
...  
Keyword(s):  
X Inactivation ◽  
Inactivation Pattern ◽  
Novel Strategy ◽  
Skewed X Inactivation

De novo interstitial direct duplication of Xq21.1q25 associated with skewed X-inactivation pattern

2004 ◽  
Vol 131A (3) ◽  
pp. 273-280 ◽  
Author(s):  
G. Tachdjian ◽  
A. Aboura ◽  
M. Benkhalifa ◽  
I. Creveaux ◽  
L. Foix-Hélias ◽  
...  
Keyword(s):  
De Novo ◽  
X Inactivation ◽  
Inactivation Pattern ◽  
Skewed X Inactivation

scholarly journals Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern

2016 ◽  
Vol 37 (8) ◽  
pp. 804-811 ◽  
Author(s):  
Nathalie Fieremans ◽  
Hilde Van Esch ◽  
Maureen Holvoet ◽  
Gert Van Goethem ◽  
Koenraad Devriendt ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
X Inactivation ◽  
Female Patients ◽  
Inactivation Pattern ◽  
Skewed X Inactivation

Skewed X inactivation in Lesch–Nyhan disease carrier females

2017 ◽  
Vol 62 (12) ◽  
pp. 1079-1083 ◽  
Author(s):  
Rosa J Torres ◽  
Juan G Puig
Keyword(s):  
X Inactivation ◽  
Skewed X Inactivation

Skewed X Inactivation of the Normal Allele in Fully Mutated Female Carriers Determines the Levels of FMRP in Blood and the Fragile X Phenotype

2005 ◽  
Vol 9 (3) ◽  
pp. 157-162 ◽  
Author(s):  
Raquel Martínez ◽  
Victoria Bonilla-Henao ◽  
Antonio Jiménez ◽  
Miguel Lucas ◽  
Carmen Vega ◽  
...  
Keyword(s):  
Fragile X ◽  
X Inactivation ◽  
Normal Allele ◽  
Skewed X Inactivation ◽  
Female Carriers

scholarly journals Genetic Architecture of Skewed X Inactivation in the Laboratory Mouse

PLoS Genetics ◽  
2013 ◽  
Vol 9 (10) ◽  
pp. e1003853 ◽  
Author(s):  
John D. Calaway ◽  
Alan B. Lenarcic ◽  
John P. Didion ◽  
Jeremy R. Wang ◽  
Jeremy B. Searle ◽  
...  
Keyword(s):  
Genetic Architecture ◽  
Laboratory Mouse ◽  
X Inactivation ◽  
Skewed X Inactivation

scholarly journals Skewed X-inactivation is common in the general female population

2018 ◽  
Vol 27 (3) ◽  
pp. 455-465 ◽  
Author(s):  
Ekaterina Shvetsova ◽  
◽  
Alina Sofronova ◽  
Ramin Monajemi ◽  
Kristina Gagalova ◽  
...  
Keyword(s):  
X Inactivation ◽  
Female Population ◽  
Skewed X Inactivation
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