Skewed X-chromosome inactivation is not associated with premature ovarian failure in a large cohort of Italian patients

2006 ◽  
Vol 140A (12) ◽  
pp. 1349-1351 ◽  
Author(s):  
Silvia Bione ◽  
Sara Benedetti ◽  
Mara Goegan ◽  
Immacolata Menditto ◽  
Anna Marozzi ◽  
...  
Keyword(s):  
X Chromosome ◽  
Premature Ovarian Failure ◽  
X Chromosome Inactivation ◽  
Ovarian Failure ◽  
Large Cohort ◽  
Chromosome Inactivation ◽  
Skewed X Chromosome Inactivation

Genetic significance of skewed X-chromosome inactivation in premature ovarian failure

2004 ◽  
Vol 130A (3) ◽  
pp. 240-244 ◽  
Author(s):  
Kazuyo Sato ◽  
Shigeki Uehara ◽  
Masaki Hashiyada ◽  
Hiroshi Nabeshima ◽  
Jun-ichi Sugawara ◽  
...  
Keyword(s):  
X Chromosome ◽  
Premature Ovarian Failure ◽  
X Chromosome Inactivation ◽  
Ovarian Failure ◽  
Chromosome Inactivation ◽  
Genetic Significance ◽  
Skewed X Chromosome Inactivation

X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers

2010 ◽  
Vol 152A (2) ◽  
pp. 387-393 ◽  
Author(s):  
Marian A. Spath ◽  
Willy N. Nillesen ◽  
Arie P.T. Smits ◽  
Ton B. Feuth ◽  
Didi D.M. Braat ◽  
...  
Keyword(s):  
X Chromosome ◽  
Premature Ovarian Failure ◽  
Fragile X ◽  
X Chromosome Inactivation ◽  
Ovarian Failure ◽  
Chromosome Inactivation ◽  
Fragile X Premutation

scholarly journals X chromosome inactivation patterns in patients with idiopathic premature ovarian failure

2008 ◽  
Vol 23 (3) ◽  
pp. 688-692 ◽  
Author(s):  
S. H. Yoon ◽  
Y. M. Choi ◽  
M. A. Hong ◽  
B. M. Kang ◽  
J. J. Kim ◽  
...  
Keyword(s):  
X Chromosome ◽  
Premature Ovarian Failure ◽  
X Chromosome Inactivation ◽  
Ovarian Failure ◽  
Chromosome Inactivation

Skewed X-chromosome inactivation is associated with primary but not secondary ovarian failure

2007 ◽  
Vol 143A (9) ◽  
pp. 945-951 ◽  
Author(s):  
Karla L. Bretherick ◽  
Daniel L. Metzger ◽  
Jean-Pierre Chanoine ◽  
Constadina Panagiotopoulos ◽  
Spencer K. Watson ◽  
...  
Keyword(s):  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Ovarian Failure ◽  
Chromosome Inactivation ◽  
Skewed X Chromosome Inactivation

X-linked CNV and skewed X-chromosome inactivation

2020 ◽  
pp. 19-21
Author(s):  
Е.А. Фонова ◽  
Е.Н. Толмачева ◽  
А.А. Кашеварова ◽  
М.Е. Лопаткина ◽  
К.А. Павлова ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Intellectual Disability ◽  
X Chromosome ◽  
Copy Number ◽  
Copy Number Variations ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Chromosome X ◽  
Skewed X Chromosome Inactivation

Смещение инактивации Х-хромосомы может быть следствием и маркером нарушения клеточной пролиферации при вариациях числа копий ДНК на Х-хромосоме. Х-сцепленные CNV выявляются как у женщин с невынашиванием беременности и смещением инактивации Х-хромосомы (с частотой 33,3%), так и у пациентов с умственной отсталостью и смещением инактивацией у их матерей (с частотой 40%). A skewed X-chromosome inactivation can be a consequence and a marker of impaired cell proliferation in the presence of copy number variations (CNV) on the X chromosome. X-linked CNVs are detected in women with miscarriages and a skewed X-chromosome inactivation (with a frequency of 33.3%), as well as in patients with intellectual disability and skewed X-chromosome inactivation in their mothers (with a frequency of 40%).

scholarly journals Skewed X-Chromosome Inactivation Is a Common Feature of X-Linked Mental Retardation Disorders

2002 ◽  
Vol 71 (1) ◽  
pp. 168-173 ◽  
Author(s):  
Robert M. Plenge ◽  
Roger A. Stevenson ◽  
Herbert A. Lubs ◽  
Charles E. Schwartz ◽  
Huntington F. Willard
Keyword(s):  
Mental Retardation ◽  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Skewed X Chromosome Inactivation

scholarly journals Extremely skewed X-chromosome inactivation is increased in pre-eclampsia

2006 ◽  
Vol 121 (1) ◽  
pp. 101-105 ◽  
Author(s):  
Elif Uz ◽  
Ismail Dolen ◽  
Atakan R. Al ◽  
Tayfun Ozcelik
Keyword(s):  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Skewed X Chromosome Inactivation

Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy

2017 ◽  
Vol 19 (4) ◽  
pp. e2952 ◽  
Author(s):  
Emanuela Viggiano ◽  
Esther Picillo ◽  
Manuela Ergoli ◽  
Alessandra Cirillo ◽  
Stefania Del Gaudio ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
X Chromosome ◽  
Crucial Role ◽  
Becker Muscular Dystrophy ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Skewed X Chromosome Inactivation
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