CHMgene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia

2009 ◽  
Vol 149A (10) ◽  
pp. 2134-2140 ◽  
Author(s):  
Hector J. Perez-Cano ◽  
Rosa E. Garnica-hayashi ◽  
Juan C. Zenteno
Keyword(s):  
Molecular Analysis ◽  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Inactivation Pattern ◽  
Pattern Determination

Unusual X-chromosome inactivation pattern in patients with Xp11.23-p11.22 duplication: Report and review

2016 ◽  
Vol 170 (12) ◽  
pp. 3271-3275
Author(s):  
Adriana Di-Battista ◽  
Vera Ayres Meloni ◽  
Magnus Dias da Silva ◽  
Mariana Moysés-Oliveira ◽  
Maria Isabel Melaragno
Keyword(s):  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Inactivation Pattern

X chromosome inactivation analysis reveals a difference in the biology of ET patients with JAK2 and CALR mutations

Blood ◽  
2014 ◽  
Vol 124 (13) ◽  
pp. 2091-2093 ◽  
Author(s):  
Christopher Allen ◽  
Jonathan R. Lambert ◽  
David C. Linch ◽  
Rosemary E. Gale
Keyword(s):  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Wild Type ◽  
Key Points ◽  
Inactivation Pattern ◽  
Calr Mutations ◽  
Calr Mutation

Key Points In ET, a CALR mutation correlates with a monoclonal X chromosome inactivation pattern, which differs from JAK2V617F mutant disease. The presence of a CALR mutant is associated with suppression of wild-type myelopoiesis.

No Link Between X Chromosome Inactivation Pattern and Simple Goiter in Females: Evidence from a Twin Study

Thyroid ◽  
2009 ◽  
Vol 19 (2) ◽  
pp. 165-169 ◽  
Author(s):  
Thomas Heiberg Brix ◽  
Pia Skov Hansen ◽  
Gun Peggy S. Knudsen ◽  
Marianne K. Kringen ◽  
Kirsten Ohm Kyvik ◽  
...  
Keyword(s):  
X Chromosome ◽  
Twin Study ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Inactivation Pattern

scholarly journals Human X-chromosome inactivation pattern distributions fit a model of genetically influenced choice better than models of completely random choice

2013 ◽  
Vol 21 (12) ◽  
pp. 1396-1402 ◽  
Author(s):  
Nisa K E Renault ◽  
Sonja M Pritchett ◽  
Robin E Howell ◽  
Wenda L Greer ◽  
Carmen Sapienza ◽  
...  
Keyword(s):  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Random Choice ◽  
Inactivation Pattern ◽  
Better Than
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