Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum
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Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical ChallengeConnecting the CNTNAP2 Networks with Neurodevelopmental DisordersShining a light on CNTNAP2: complex functions to complex disorders.Clinical review of genetic epileptic encephalopathiesThe struggle to find reliable results in exome sequencing data: filtering out Mendelian errors.Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.The second brain in autism spectrum disorder: could connexin 43 expressed in enteric glial cells play a role?Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterless.Psychiatric Risk Gene Transcription Factor 4 Regulates Intrinsic Excitability of Prefrontal Neurons via Repression of SCN10a and KCNQ1Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system.Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis.Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disabilityTCF4 (e2-2; ITF2): a schizophrenia-associated gene with pleiotropic effects on human disease.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.An adapted walking intervention for a child with Pitt Hopkins syndrome.Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.Associations of the Intellectual Disability Gene MYT1L with Helix-Loop-Helix Gene Expression, Hippocampus Volume and Hippocampus Activation During Memory Retrieval.Pitt-Hopkins Mouse Model has Altered Particular Gastrointestinal Transits In Vivo.Neurodevelopmental models of transcription factor 4 deficiency converge on a common ion channel as a potential therapeutic target for Pitt Hopkins syndromeA case of Pitt-Hopkins syndrome with absence of hyperventilation.Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome.Common pathophysiology in multiple mouse models of Pitt-Hopkins syndrome.Insight into the molecular genetics of myopia.Previously unreported difficult intubation in a child with Pitt-Hopkins syndrome.Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.WNT/β-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4.Identification of novel genetic causes of Rett syndrome-like phenotypes.Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome.Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons.Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.Acetazolamide for severe apnea in Pitt-Hopkins syndrome
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Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum
description
im November 2011 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 23 November 2011
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в листопаді 2011
@uk
name
Novel comprehensive diagnostic ...... f the TCF4 mutational spectrum
@en
Novel comprehensive diagnostic ...... f the TCF4 mutational spectrum
@nl
type
label
Novel comprehensive diagnostic ...... f the TCF4 mutational spectrum
@en
Novel comprehensive diagnostic ...... f the TCF4 mutational spectrum
@nl
prefLabel
Novel comprehensive diagnostic ...... f the TCF4 mutational spectrum
@en
Novel comprehensive diagnostic ...... f the TCF4 mutational spectrum
@nl
P2093
P2860
P50
P356
P1433
P1476
Novel comprehensive diagnostic ...... f the TCF4 mutational spectrum
@en
P2093
Alexandra Afenjar
Alice Goldenberg
Audrey Briand-Suleau
Audrey Putoux
Aurelia Jacquette
Corinne Metay
Cyril Mignot
Delphine Héron
Dragana Josifova
Fabienne Giuliano
P2860
P356
10.1002/HUMU.21639
P577
2011-11-23T00:00:00Z