FMR1gene expansion, large deletion of Xp, and skewed X-inactivation in a girl with mental retardation and autism

2010 ◽  
Vol 152A (5) ◽  
pp. 1273-1277 ◽  
Author(s):  
Alzbeta Vazna ◽  
Zuzana Musova ◽  
Marketa Vlckova ◽  
Dhahuse Novotna ◽  
Lenka Dvorakova ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Large Deletion ◽  
X Inactivation ◽  
Skewed X Inactivation

scholarly journals Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome (Am J Med Genet 131A: 209-212)

2005 ◽  
Vol 134A (3) ◽  
pp. 347-347
Author(s):  
Frank J. Probst ◽  
Peter Hedera ◽  
Anthony M. Sclafani ◽  
Maria Grazia Pomponi ◽  
Giovanni Neri ◽  
...  
Keyword(s):  
Mental Retardation ◽  
X Inactivation ◽  
Skewed X Inactivation

Skewed X-inactivation in carriers establishes linkage in an X-linked deafness-mental retardation syndrome

2004 ◽  
Vol 131A (2) ◽  
pp. 209-212 ◽  
Author(s):  
Frank J. Probst ◽  
Peter Hedera ◽  
Anthony M. Sclafani ◽  
Maria Grazia Pomponi ◽  
Giovanni Neri ◽  
...  
Keyword(s):  
Mental Retardation ◽  
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

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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