相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice
Nicky S. J. Halbach et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
MeCP2 Binds to 5hmC Enriched within Active Genes and Accessible Chromatin in the Nervous System
Marian Mellen et al.
CELL (2012)
Growth failure and outcome in Rett syndrome Specific growth references
Daniel Charles Tarquinio et al.
NEUROLOGY (2012)
Rett Syndrome: Revised Diagnostic Criteria and Nomenclature
Jeffrey L. Neul et al.
ANNALS OF NEUROLOGY (2010)
Epilepsy and the natural history of Rett syndrome
D. G. Glaze et al.
NEUROLOGY (2010)
Diagnostic criteria for the Zappella variant of Rett syndrome (the preserved speech variant)
A. Renieri et al.
BRAIN & DEVELOPMENT (2009)
FOXG1 is responsible for the congenital variant of Rett syndrome
Francesca Ariani et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome
J. L. Neul et al.
NEUROLOGY (2008)
Investigating genotype-phenotype relationships in Rett syndrome using an international data set
A. Bebbington et al.
NEUROLOGY (2008)
MeCP2, a key contributor to neurological disease, activates and represses transcription
Maria Chahrour et al.
SCIENCE (2008)
X Chromosome Inactivation in Rett Syndrome and Its Correlations With MeCP2 Mutations and Phenotype
Xinhua Bao et al.
JOURNAL OF CHILD NEUROLOGY (2008)
Rett syndrome: North American database
Alan K. Percy et al.
JOURNAL OF CHILD NEUROLOGY (2007)
Seizures in Rett syndrome: An overview from a one-year calendar study
Le Jian et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY (2007)
Correlation between clinical severity in patients with Rett Syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation
Hayley Archer et al.
JOURNAL OF MEDICAL GENETICS (2007)
Rett syndrome in Australia: A review of the epidemiology
CL Laurvick et al.
JOURNAL OF PEDIATRICS (2006)
Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome
T Charman et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2005)
X chromosome inactivation patterns in brain in Rett syndrome: implications for the disease phenotype
JH Gibson et al.
BRAIN & DEVELOPMENT (2005)
Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome
C Schanen et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2004)
Refining the phenotype of common mutations in Rett syndrome
L Colvin et al.
JOURNAL OF MEDICAL GENETICS (2004)
Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?
H Leonard et al.
JOURNAL OF MEDICAL GENETICS (2003)
Effects of MECP2 mutation type, location and X-inactivation in modulating Rett syndrome phenotype
LS Weaving et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)
Describing the phenotype in Rett syndrome using a population database
L Colvin et al.
ARCHIVES OF DISEASE IN CHILDHOOD (2003)
Rett syndrome in Spain:: mutation analysis and clinical correlations
E Monrós et al.
BRAIN & DEVELOPMENT (2001)
Guidelines for reporting clinical features in cases with MECP2 mutations
AM Kerr et al.
BRAIN & DEVELOPMENT (2001)
分享论文
