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Title
Pitt-Hopkins Syndrome: A Unique Case Study
Authors
Keywords
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Journal
JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY
Volume 24, Issue 09, Pages 995-1002
Publisher
Cambridge University Press (CUP)
Online
2018-10-30
DOI
10.1017/s1355617718000668
References
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Related references
Note: Only part of the references are listed.- Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series
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- (2014) Marc P. Forrest et al. TRENDS IN MOLECULAR MEDICINE
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- (2012) Roksana Armani et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- 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
- The role of the TCF4 gene in the phenotype of individuals with 18q segmental deletions
- (2011) Minire Hasi et al. HUMAN GENETICS
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- (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
- 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
- TCF4, Schizophrenia, and Pitt-Hopkins Syndrome
- (2010) D. J. Blake et al. SCHIZOPHRENIA BULLETIN
- 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
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- (2008) Joris Andrieux et al. European Journal of Medical Genetics
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- (2008) Irina Giurgea et al. HUMAN MUTATION
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