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

The future of DNA sequencing

(2017) Eric D. Green et al.   NATURE

Guiding Principles for Team-Based Pediatric Care

(2017) Julie P. Katkin et al.   PEDIATRICS

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

Utility of Whole Exome Sequencing for Genetic Diagnosis of Previously Undiagnosed Pediatric Neurology Patients

(2016) Maya Kuperberg et al.   JOURNAL OF CHILD NEUROLOGY

Whole Exome Sequencing in Pediatric Neurology Patients

(2016) Danielle Nolan et al.   JOURNAL OF CHILD NEUROLOGY

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

Recognition and Management of Medical Complexity

(2016) D. Z. Kuo et al.   PEDIATRICS

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

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

(2015) L. Tamberg et al.   Biology Open

If not Angelman, what is it? a review of Angelman-like syndromes

(2014) Wen-Hann Tan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic disorders associated with postnatal microcephaly

(2014) Laurie E. Seltzer et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

The emerging roles of TCF4 in disease and development

(2014) Marc P. Forrest et al.   TRENDS IN MOLECULAR MEDICINE

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

Knockdown of Human TCF4 Affects Multiple Signaling Pathways Involved in Cell Survival, Epithelial to Mesenchymal Transition and Neuronal Differentiation

(2013) Marc P. Forrest et al.   PLoS One

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

Transcription Factor 4 and Myocyte Enhancer Factor 2C mutations are not common causes of Rett syndrome

(2012) Roksana Armani 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

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

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

A Case of Pitt-Hopkins Syndrome With Absence of Hyperventilation

(2012) Adlette Inati et al.   JOURNAL OF CHILD NEUROLOGY

Clinical and Polygraphic Improvement of Breathing Abnormalities After Valproate in a Case of Pitt-Hopkins Syndrome

(2012) Ilenia Maini et al.   JOURNAL OF CHILD NEUROLOGY

Pitt-Hopkins Syndrome in a Boy With Charcot Marie Tooth Disease Type 1A: A Rare Co-occurrence of 2 Genetic Disorders

(2012) Partha S. Ghosh et al.   JOURNAL OF CHILD NEUROLOGY

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

(2011) Daphne Lehalle 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

Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

(2011) Anne Gregor et al.   BMC Medical Genetics

Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype

(2011) K Takano et al.   CLINICAL GENETICS

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

(2011) Minire Hasi et al.   HUMAN GENETICS

Neurologic and ocular phenotype in Pitt–Hopkins syndrome and a zebrafish model

(2011) Antje Brockschmidt 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

Evidence Report: Genetic and metabolic testing on children with global developmental delay: Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society

(2011) D. J. Michelson et al.   NEUROLOGY

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

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

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

Hyperventilation and the Pitt-Hopkins syndrome

(2009) Robert Ouvrier   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

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