Associated Papers
Genetic Testing for Global Developmental Delay in Early Childhood.
Zhang J et al.
Jama Network Open, 2024
Expanding the phenotype in Pitt-Hopkins syndrome; description of new oral finding and dental management considerations.
Hassona Y et al.
Bmc Oral Health, 2024
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt-Hopkins syndrome: a retrospective study.
Zhao T et al.
Orphanet Journal of Rare Diseases, 2024
Surgical treatment of Pitt-Hopkins syndrome associated with strabismus and early-onset myopia: Two case reports.
Huang Y et al.
World Journal of Clinical Cases, 2022
Generation of 10 patient-specific induced pluripotent stem cells (iPSCs) to model Pitt-Hopkins Syndrome.
Sripathy SR et al.
Stem Cell Research, 2020
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 2020
The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing.
Wang J et al.
Bmc Medical Genomics, 2020
Genetic basis of neurodevelopmental disorders in 103 Jordanian families.
Froukh T et al.
Clinical Genetics, 2020
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis.
Mary L et al.
European Journal of Human Genetics : Ejhg, 2018
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
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
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
de Pontual L et al.
Human Mutation, 2009
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.
Zweier C et al.
Journal of Medical Genetics, 2008
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome).
Zweier C et al.
American Journal of Human Genetics, 2007