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。Rett Syndrome: Revised Diagnostic Criteria and Nomenclature
Jeffrey L. Neul et al.
ANNALS OF NEUROLOGY (2010)
Two percent of patients suspected of having Angelman syndrome have TCF4 mutations
K. Takano et al.
CLINICAL GENETICS (2010)
Mutations in MEF2C from the 5q14.3q15 Microdeletion Syndrome Region Are a Frequent Cause of Severe Mental Retardation and Diminish MECP2 and CDKL5 Expression
Markus Zweier et al.
HUMAN MUTATION (2010)
Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females
C. Philippe et al.
JOURNAL OF MEDICAL GENETICS (2010)
MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations
N. Le Meur et al.
JOURNAL OF MEDICAL GENETICS (2010)
Ensembl Genomes: Extending Ensembl across the taxonomic space
P. J. Kersey et al.
NUCLEIC ACIDS RESEARCH (2010)
Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders
Rose White et al.
TWIN RESEARCH AND HUMAN GENETICS (2010)
Mutational, Functional, and Expression Studies of the TCF4 Gene in Pitt-Hopkins Syndrome
Loic de Pontual et al.
HUMAN MUTATION (2009)
Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14.3-q15 deletion
C. Cardoso et al.
NEUROLOGY (2009)
FlyBase: enhancing Drosophila Gene Ontology annotations
Susan Tweedie et al.
NUCLEIC ACIDS RESEARCH (2009)
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome
Vera M. Kalscheuer et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
TCF4 Deletions in Pitt-Hopkins Syndrome
Irina Giurgea et al.
HUMAN MUTATION (2008)
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients
C. Zweier et al.
JOURNAL OF MEDICAL GENETICS (2008)
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4
Antje Brockschmidt et al.
HUMAN MOLECULAR GENETICS (2007)
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)
Christiane Zweier et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction
Jeanne Amiel et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
Italian Rett database and biobank
Katia Sampieri et al.
HUMAN MUTATION (2007)
Reversal of neurological defects in a mouse model of Rett syndrome
Jacky Guy et al.
SCIENCE (2007)
Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2
Emanuela Giacometti et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Angelman syndrome 2005: Updated consensus for diagnostic criteria
CA Williams et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)
Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly
SA Shoichet et al.
HUMAN GENETICS (2005)
Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome -: art. no. e15
RE Amir et al.
JOURNAL OF MEDICAL GENETICS (2005)
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation
LS Weaving et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)