Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome
about
Common variants conferring risk of schizophreniaPitt-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 mutationsThe role of genetics in the etiology of schizophreniaAssociations between TCF4 gene polymorphism and cognitive functions in schizophrenia patients and healthy controls.Pitt-Hopkins Syndrome.Deletion of the Chd6 exon 12 affects motor coordination.The ATP-dependent chromatin remodeling enzymes CHD6, CHD7, and CHD8 exhibit distinct nucleosome binding and remodeling activities.Functional diversity of human basic helix-loop-helix transcription factor TCF4 isoforms generated by alternative 5' exon usage and splicing.Genome-wide approaches to schizophrenia.Structure and mechanisms of lysine methylation recognition by the chromodomain in gene transcription.Balanced into array: genome-wide array analysis in 54 patients with an apparently balanced de novo chromosome rearrangement and a meta-analysis.The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions.Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disabilityImpact of TCF4 on the genetics of schizophrenia.Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription.CHD6 regulates the topological arrangement of the CFTR locusPitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.Transcription factor 4 gene rs9960767 polymorphism in bipolar disorder.Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.The schizophrenia- and autism-associated gene, transcription factor 4 regulates the columnar distribution of layer 2/3 prefrontal pyramidal neurons in an activity-dependent manner.Parent-child exome sequencing identifies a de novo truncating mutation in TCF4 in non-syndromic intellectual disability.A promoter variant of SHANK1 affects auditory working memory in schizophrenia patients and in subjects clinically at risk for psychosis.Identification of Wnt/β-catenin signaling pathway in dermal papilla cells of human scalp hair follicles: TCF4 regulates the proliferation and secretory activity of dermal papilla cell.Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model.Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.Novel schizophrenia risk gene TCF4 influences verbal learning and memory functioning in schizophrenia patients.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.Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum
P2860
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P2860
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome
description
2008 nî lūn-bûn
@nan
2008 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Disruption of the TCF4 gene in ...... lassical Pitt-Hopkins syndrome
@ast
Disruption of the TCF4 gene in ...... lassical Pitt-Hopkins syndrome
@en
Disruption of the TCF4 gene in ...... lassical Pitt-Hopkins syndrome
@nl
type
label
Disruption of the TCF4 gene in ...... lassical Pitt-Hopkins syndrome
@ast
Disruption of the TCF4 gene in ...... lassical Pitt-Hopkins syndrome
@en
Disruption of the TCF4 gene in ...... lassical Pitt-Hopkins syndrome
@nl
prefLabel
Disruption of the TCF4 gene in ...... lassical Pitt-Hopkins syndrome
@ast
Disruption of the TCF4 gene in ...... lassical Pitt-Hopkins syndrome
@en
Disruption of the TCF4 gene in ...... lassical Pitt-Hopkins syndrome
@nl
P2093
P50
P3181
P356
P1476
Disruption of the TCF4 gene in ...... lassical Pitt-Hopkins syndrome
@en
P2093
Conny M A Van Ravenswaaij-Arts
Dominique F C M Smeets
Ilse Feenstra
P304
P3181
P356
10.1002/AJMG.A.32419
P407
P577
2008-08-15T00:00:00Z