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

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

Two female patients with Xq27.3q28 deletion and skewed X-inactivation display similar phenotypes as hunter syndrome

2017 ◽  
Vol 381 ◽  
pp. 194
Author(s):  
K. Katoh ◽  
K. Aiba ◽  
D. Fukushi ◽  
Y. Suzuki ◽  
K. Yamada ◽  
...  
Keyword(s):  
Hunter Syndrome ◽  
X Inactivation ◽  
Female Patients ◽  
Skewed X Inactivation

Skewed X-inactivation in a family with DLG3- associated X-linked intellectual disability

2017 ◽  
Vol 173 (9) ◽  
pp. 2545-2550 ◽  
Author(s):  
Laura Gieldon ◽  
Luisa Mackenroth ◽  
Elitza Betcheva-Krajcir ◽  
Andreas Rump ◽  
Stefanie Beck-Wödl ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
X Inactivation ◽  
Skewed X Inactivation

Chromosome X inactivation pattern in FSHD female patients

2017 ◽  
Vol 27 ◽  
pp. S5
Author(s):  
M. Cao ◽  
C. Bertolin ◽  
S. Tripodi ◽  
L. Bello ◽  
G. Soraru ◽  
...  
Keyword(s):  
X Inactivation ◽  
Chromosome X ◽  
Female Patients ◽  
Inactivation Pattern

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

De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation

2014 ◽  
Vol 133 (11) ◽  
pp. 1359-1367 ◽  
Author(s):  
Nathalie Fieremans ◽  
Marijke Bauters ◽  
Stefanie Belet ◽  
Jelle Verbeeck ◽  
Anna C. Jansen ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
De Novo ◽  
X Inactivation ◽  
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
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