Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement

Harms of Antipsychotics in Children and Young Adults: A Systematic Review Update

(2018) Jennifer Pillay et al.   CANADIAN JOURNAL OF PSYCHIATRY-REVUE CANADIENNE DE PSYCHIATRIE

Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

(2018) Laura Mary et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series

(2018) Kimberly Goodspeed et al.   JOURNAL OF CHILD NEUROLOGY

Catathrenia in Pitt-Hopkins syndrome associated with 18q interstitial deletion

(2018) Toshino Motojima et al.   PEDIATRICS INTERNATIONAL

Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4

(2017) Maria Francesca Bedeschi et al.   European Journal of Medical Genetics

European Society for Paediatric Gastroenterology, Hepatology and Nutrition Guidelines for the Evaluation and Treatment of Gastrointestinal and Nutritional Complications in Children With Neurological Impairment

(2017) Claudio Romano et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Mapping the human DC lineage through the integration of high-dimensional techniques

(2017) Peter See et al.   SCIENCE

Improving hospital care of patients with intellectual and developmental disabilities

(2017) Sarah H. Ailey et al.   Disability and Health Journal

Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome

(2016) Mira Kharbanda et al.   European Journal of Medical Genetics

Living a normal life in an extraordinary way: A systematic review investigating experiences of families of young people's transition into adulthood when affected by a genetic and chronic childhood condition

(2016) Veronika Waldboth et al.   INTERNATIONAL JOURNAL OF NURSING STUDIES

Eight further individuals with intellectual disability and epilepsy carrying bi-allelicCNTNAP2aberrations allow delineation of the mutational and phenotypic spectrum

(2016) Mateja Smogavec et al.   JOURNAL OF MEDICAL GENETICS

What’s New in Pediatric Flatfoot?

(2016) Kathryn Bauer et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS

Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system

(2016) Channa F. de Winter et al.   Orphanet Journal of Rare Diseases

Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability

(2016) Valerie Maduro et al.   Orphanet Journal of Rare Diseases

Tcf4 Regulates Synaptic Plasticity, DNA Methylation, and Memory Function

(2016) Andrew J. Kennedy et al.   Cell Reports

Successful use of acetazolamide for central apnea in a child with Pitt-Hopkins syndrome

(2015) Claire Gaffney et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pitt-Hopkins Mouse Model has Altered Particular Gastrointestinal Transits In Vivo

(2015) Vladimir Grubišić et al.   Autism Research

Characterization of patients referred for non-specific intellectual disability testing: the importance of autosomal genes for diagnosis

(2015) C.A. Tan et al.   CLINICAL GENETICS

Building treasures for rare disorders

(2015) Melanie Baas et al.   European Journal of Medical Genetics

TCF4 Mediates the Maintenance of Neuropathic Pain Through Wnt/β-Catenin Signaling Following Peripheral Nerve Injury in Rats

(2015) Zhongling Xu et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterless

(2015) L. Tamberg et al.   Biology Open

Effect of Sarizotan, a 5-HT1aand D2-Like Receptor Agonist, on Respiration in Three Mouse Models of Rett Syndrome

(2014) Ana P. Abdala et al.   AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY

Adults with Chromosome 18 Abnormalities

(2014) Bridgette Soileau et al.   Journal of Genetic Counseling

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

(2014) Claire Redin et al.   JOURNAL OF MEDICAL GENETICS

Flatfoot Deformity in Children and Adolescents

(2014) Maryse Bouchard et al.   JOURNAL OF THE AMERICAN ACADEMY OF ORTHOPAEDIC SURGEONS

Menstrual and Reproductive Issues in Adolescents With Physical and Developmental Disabilities

(2014) Elisabeth H. Quint   OBSTETRICS AND GYNECOLOGY

263.4 kb deletion within the TCF4 gene consistent with Pitt–Hopkins syndrome, inherited from a mosaic parent with normal phenotype

(2013) Ludmila Kousoulidou et al.   European Journal of Medical Genetics

Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations

(2013) Caroline Schluth-Bolard et al.   JOURNAL OF MEDICAL GENETICS

Oral Health Care for Children With Developmental Disabilities

(2013) K. W. Norwood et al.   PEDIATRICS

Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome

(2012) Giuseppe Marangi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Acetazolamide for severe apnea in Pitt-Hopkins syndrome

(2012) Stijn L. Verhulst et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome

(2012) Toshiki Takenouchi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mosaic 18q21.2 deletions including theTCF4gene: A clinical report

(2012) Massimiliano Rossi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

(2012) Michael E. Talkowski et al.   CELL

Parent-child exome sequencing identifiesade novotruncating mutation inTCF4in non-syndromic intellectual disability

(2012) F F Hamdan et al.   CLINICAL GENETICS

Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome

(2012) CVM Steinbusch et al.   CLINICAL GENETICS

Development, cognition, and behaviour in Pitt-Hopkins syndrome

(2012) INGRID D C VAN BALKOM et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Genome-wide association analysis in Primary sclerosing cholangitis and ulcerative colitis identifies risk loci atGPR35andTCF4

(2012) David Ellinghaus et al.   HEPATOLOGY

Pitt–Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects

(2012) Mari Sepp et al.   HUMAN MOLECULAR GENETICS

Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome

(2011) Daphne Lehalle et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The Pitt-Hopkins syndrome: Report of 16 new patients and clinical diagnostic criteria

(2011) Giuseppe Marangi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Compound heterozygous deletion of NRXN1 causing severe developmental delay with early onset epilepsy in two sisters

(2011) Victoria Harrison et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions

(2011) Minire Hasi et al.   HUMAN GENETICS

Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

(2011) Sandra Whalen et al.   HUMAN MUTATION

Functional Diversity of Human Basic Helix-Loop-Helix Transcription Factor TCF4 Isoforms Generated by Alternative 5′ Exon Usage and Splicing

(2011) Mari Sepp et al.   PLoS One

The Treatment of Central Sleep Apnea Syndromes in Adults: Practice Parameters with an Evidence-Based Literature Review and Meta-Analyses

(2011) R. Nisha Aurora et al.   SLEEP

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Two percent of patients suspected of having Angelman syndrome have TCF4 mutations

(2010) K Takano et al.   CLINICAL GENETICS

Mosaic microdeletion 18q21 as a cause of mental retardation

(2010) Dimitri J. Stavropoulos et al.   European Journal of Medical Genetics

Mental retardation, macrostomia and hyperpnoea syndrome

(2010) H. A. SINGH   JOURNAL OF PAEDIATRICS AND CHILD HEALTH

E2-2 Protein and Fuchs's Corneal Dystrophy

(2010) Keith H. Baratz et al.   NEW ENGLAND JOURNAL OF MEDICINE

An emerging role for class I bHLH E2-2 proteins in EMT regulation and tumor progression

(2010) Amparo Cano et al.   Cell Adhesion & Migration

CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila

(2009) Christiane Zweier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Randomized, Single-Blind, Controlled Trial of a Specialist Behavior Therapy Team for Challenging Behavior in Adults With Intellectual Disabilities

(2009) Angela Hassiotis et al.   AMERICAN JOURNAL OF PSYCHIATRY

Genotype–phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations

(2009) Jill A Rosenfeld et al.   GENETICS IN MEDICINE

Mutational, functional, and expression studies of theTCF4gene in Pitt-Hopkins syndrome

(2009) Lo��c de Pontual et al.   HUMAN MUTATION

Disruption of theTCF4gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome

(2008) Vera M. Kalscheuer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Transcription Factor E2-2 Is an Essential and Specific Regulator of Plasmacytoid Dendritic Cell Development

(2008) Babacar Cisse et al.   CELL

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array

(2008) Joris Andrieux et al.   European Journal of Medical Genetics

TCF4Deletions in Pitt-Hopkins Syndrome

(2008) Irina Giurgea et al.   HUMAN MUTATION