scholarly journals MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern

2001 ◽  
Vol 9 (3) ◽  
pp. 178-184 ◽  
Author(s):  
Jytte Bieber Nielsen ◽  
Karen Friis Henriksen ◽  
Claus Hansen ◽  
Asli Silahtaroglu ◽  
Marianne Schwartz ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
X Chromosome ◽  
High Frequency ◽  
X Chromosome Inactivation ◽  
Clinical Severity ◽  
Chromosome Inactivation ◽  
Inactivation Pattern

Increased skewing of X chromosome inactivation in Rett syndrome patients and their mothers

2006 ◽  
Vol 14 (11) ◽  
pp. 1189-1194 ◽  
Author(s):  
Gun Peggy S Knudsen ◽  
Tracey C S Neilson ◽  
June Pedersen ◽  
Alison Kerr ◽  
Marianne Schwartz ◽  
...  
Keyword(s):  
Rett Syndrome ◽  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation

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.

scholarly journals High frequency of the X-chromosome inactivation in young female patients with high-grade glioma

2013 ◽  
Vol 8 (1) ◽  
Author(s):  
Gang Li ◽  
Zhiguo Zhang ◽  
Tianbo Jin ◽  
Hongjuan Liang ◽  
Yanyang Tu ◽  
...  
Keyword(s):  
X Chromosome ◽  
High Frequency ◽  
High Grade Glioma ◽  
Young Female ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
High Grade ◽  
Female Patients

Influence of MECP2 Gene Mutation and X-Chromosome Inactivation on the Rett Syndrome Phenotype

2004 ◽  
Vol 19 (7) ◽  
pp. 503-508 ◽  
Author(s):  
Jong Hee Chae ◽  
Hee Hwang ◽  
Yong Seung Hwang ◽  
Hee Jung Cheong ◽  
Ki Joong Kim
Keyword(s):  
Gene Mutation ◽  
Rett Syndrome ◽  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Mecp2 Gene

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

X chromosome-inactivation patterns in patients with Rett syndrome

1998 ◽  
Vol 102 (3) ◽  
pp. 319-321 ◽  
Author(s):  
A. C. Victorino Krepischi ◽  
Fernando Kok ◽  
P. Guimarães Otto
Keyword(s):  
Rett Syndrome ◽  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation
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