about
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in DrosophilaPitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical ChallengeGenotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutationsE Proteins and ID Proteins: Helix-Loop-Helix Partners in Development and DiseasePitt-Hopkins Syndrome.The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions.TCF4 sequence variants and mRNA levels are associated with neurodevelopmental characteristics in psychotic disordersComplex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disabilityCRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in cerebral organoids derived from iPS cells.Development, cognition, and behaviour in Pitt-Hopkins syndrome.Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription.Transcription factor 4 (TCF4) and schizophrenia: integrating the animal and the human perspective.Genetic disorders associated with postnatal microcephaly.Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model.Common pathophysiology in multiple mouse models of Pitt-Hopkins syndrome.Association of transcription factor 4 (TCF4) gene mRNA level with schizophrenia, its psychopathology, intelligence and cognitive impairments.Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndromeNovel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum
P2860
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P2860
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh-hant
name
TCF4 deletions in Pitt-Hopkins Syndrome.
@en
TCF4 deletions in Pitt-Hopkins Syndrome.
@nl
type
label
TCF4 deletions in Pitt-Hopkins Syndrome.
@en
TCF4 deletions in Pitt-Hopkins Syndrome.
@nl
prefLabel
TCF4 deletions in Pitt-Hopkins Syndrome.
@en
TCF4 deletions in Pitt-Hopkins Syndrome.
@nl
P2093
P356
P1433
P1476
TCF4 deletions in Pitt-Hopkins Syndrome.
@en
P2093
Anne Moncla
Brigitte Chabrol
Chantal Missirian
Christèle Dubourg
Dominique Martin-Coignard
Fabienne Giuliano
Gilles Morin
Irina Giurgea
Jacqueline Arfi
Jean Claude Lambert
P304
P356
10.1002/HUMU.20859
P577
2008-11-01T00:00:00Z