Associated Papers
What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?
Zhang J et al.
Clinical Genetics, 2012
Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.
Ravn K et al.
Orphanet Journal of Rare Diseases, 2011
Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in 24 sporadic patients with Rett syndrome in China.
Zhu X et al.
Journal of Child Neurology, 2010
[Analysis of the parental origin of de novo MECP2 mutations and X chromosome inactivation in fifteen sporadic cases with Rett syndrome].
Zhu XW et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
An explanation for another familial case of Rett syndrome: maternal germline mosaicism.
Venâncio M et al.
European Journal of Human Genetics : Ejhg, 2007
Germline mosaicism for a MECP2 mutation in a man with two Rett daughters.
Evans JC et al.
Clinical Genetics, 2006
[X chromosome inactivation patterns in patients with Rett syndrome and their mothers and the parental origin of the priority inactive X chromosome].
Jiang SL et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2006
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