Two percent of patients suspected of having Angelman syndrome have TCF4 mutations.
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Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical ChallengeAssociations between TCF4 gene polymorphism and cognitive functions in schizophrenia patients and healthy controls.Pitt-Hopkins Syndrome.Drosophila Ube3a regulates monoamine synthesis by increasing GTP cyclohydrolase I activity via a non-ubiquitin ligase mechanism.The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions.Adult Phenotypes in Angelman- and Rett-Like Syndromes.Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disabilityDevelopment, 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.Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.TCF4, schizophrenia, and Pitt-Hopkins Syndrome.Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders.A case of Pitt-Hopkins syndrome with absence of hyperventilation.Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome.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.Polymorphisms of the TCF4 gene are associated with the risk of schizophrenia in the Han Chinese.The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria.Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum
P2860
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P2860
Two percent of patients suspected of having Angelman syndrome have TCF4 mutations.
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2010 nî lūn-bûn
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2010年の論文
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2010年学术文章
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2010年学术文章
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2010年学术文章
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2010年学术文章
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name
Two percent of patients suspected of having Angelman syndrome have TCF4 mutations.
@en
Two percent of patients suspected of having Angelman syndrome have TCF4 mutations.
@nl
type
label
Two percent of patients suspected of having Angelman syndrome have TCF4 mutations.
@en
Two percent of patients suspected of having Angelman syndrome have TCF4 mutations.
@nl
prefLabel
Two percent of patients suspected of having Angelman syndrome have TCF4 mutations.
@en
Two percent of patients suspected of having Angelman syndrome have TCF4 mutations.
@nl
P2093
P1433
P1476
Two percent of patients suspected of having Angelman syndrome have TCF4 mutations.
@en
P2093
P2860
P304
P356
10.1111/J.1399-0004.2010.01380.X
P577
2010-02-10T00:00:00Z