Associated Papers
Pathogenic/likely pathogenic mutations identified in Vietnamese children diagnosed with autism spectrum disorder using high-resolution SNP genotyping platform.
Bui DT et al.
Scientific Reports, 2024
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants.
Colin E et al.
Frontiers in Cell and Developmental Biology, 2022
36393831 (PubMed )
Supplement: Table1.XLSX › Feuil1
TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma.
Hellwig M et al.
Acta Neuropathologica, 2019
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.
Bedeschi MF et al.
European Journal of Medical Genetics, 2017
Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.
Maduro V et al.
Orphanet Journal of Rare Diseases, 2016
Parent-child exome sequencing identifies a de novo truncating mutation in TCF4 in non-syndromic intellectual disability.
Hamdan FF et al.
Clinical Genetics, 2013
Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects.
Sepp M et al.
Human Molecular Genetics, 2012
Adult Phenotypes in Angelman- and Rett-Like Syndromes.
Willemsen MH et al.
Molecular Syndromology, 2012
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
Whalen S et al.
Human Mutation, 2012
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.
Zweier C et al.
Journal of Medical Genetics, 2008
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