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Year Number of Results
1998 1
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2012 2
2013 2
2014 4
2015 2
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2018 3
2019 2
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2024 0

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Page 1
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.
Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC. Zollino M, et al. Clin Genet. 2019 Apr;95(4):462-478. doi: 10.1111/cge.13506. Epub 2019 Feb 18. Clin Genet. 2019. PMID: 30677142 Review.
Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, specific facial features, and marked autonomic nervous system dysfunction, especially with disturbances of regulating respiration and intestinal mobility. …
Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, specific facial …
Hyperventilation and the Pitt-Hopkins syndrome.
Ouvrier R. Ouvrier R. Dev Med Child Neurol. 2008 Jul;50(7):481. doi: 10.1111/j.1469-8749.2008.03022.x. Dev Med Child Neurol. 2008. PMID: 18611190 Free article. Review. No abstract available.
Molecular and Cellular Function of Transcription Factor 4 in Pitt-Hopkins Syndrome.
Chen HY, Bohlen JF, Maher BJ. Chen HY, et al. Dev Neurosci. 2021;43(3-4):159-167. doi: 10.1159/000516666. Epub 2021 Jun 16. Dev Neurosci. 2021. PMID: 34134113 Free PMC article. Review.
Transcription factor 4 (TCF4, also known as ITF2 or E2-2) is a type I basic helix-loop-helix transcription factor. Autosomal dominant mutations in TCF4 cause Pitt-Hopkins syndrome (PTHS), a rare syndromic form of autism spectrum disorder. ...
Transcription factor 4 (TCF4, also known as ITF2 or E2-2) is a type I basic helix-loop-helix transcription factor. Autosomal dominant mutati …
Neurexins and neuropsychiatric disorders.
Kasem E, Kurihara T, Tabuchi K. Kasem E, et al. Neurosci Res. 2018 Feb;127:53-60. doi: 10.1016/j.neures.2017.10.012. Epub 2017 Dec 6. Neurosci Res. 2018. PMID: 29221905 Review.
Remarkably, a bi-allelic deficiency of NRXN1 was recently linked to Pitt-Hopkins syndrome. The fact that some mono-allelic functional variants of NRXNs are also found in healthy controls indicates that other genetic or environmental factors affect the penetra …
Remarkably, a bi-allelic deficiency of NRXN1 was recently linked to Pitt-Hopkins syndrome. The fact that some mono-alle …
Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.
Goodspeed K, Newsom C, Morris MA, Powell C, Evans P, Golla S. Goodspeed K, et al. J Child Neurol. 2018 Mar;33(3):233-244. doi: 10.1177/0883073817750490. Epub 2018 Jan 10. J Child Neurol. 2018. PMID: 29318938 Free PMC article. Review.
Pitt-Hopkins syndrome (PTHS) is a rare, genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. ...
Pitt-Hopkins syndrome (PTHS) is a rare, genetic disorder caused by a molecular variant of TCF4 which is involved in emb …
Development, cognition, and behaviour in Pitt-Hopkins syndrome.
Van Balkom ID, Vuijk PJ, Franssens M, Hoek HW, Hennekam RC. Van Balkom ID, et al. Dev Med Child Neurol. 2012 Oct;54(10):925-31. doi: 10.1111/j.1469-8749.2012.04339.x. Epub 2012 Jun 19. Dev Med Child Neurol. 2012. PMID: 22712893 Free article. Review.
AIM: The aim of the study was to collect detailed data on behavioural, adaptive, and psychological functioning in 10 individuals with Pitt-Hopkins syndrome (PTHS), with specific attention to manifestations of autism spectrum disorder (ASD). ...
AIM: The aim of the study was to collect detailed data on behavioural, adaptive, and psychological functioning in 10 individuals with Pit …
Genetic disorders associated with postnatal microcephaly.
Seltzer LE, Paciorkowski AR. Seltzer LE, et al. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):140-55. doi: 10.1002/ajmg.c.31400. Epub 2014 May 16. Am J Med Genet C Semin Med Genet. 2014. PMID: 24839169 Review.
Among these are classic disorders such as Angelman syndrome and MECP2-related disorder (formerly Rett syndrome), as well as more recently described clinical entities associated with mutations in CASK, CDKL5, CREBBP, and EP300 (Rubinstein-Taybi syndrome), FOXG1, SLC9A6 (Christians …
Among these are classic disorders such as Angelman syndrome and MECP2-related disorder (formerly Rett syndrome), as well as more recently de …
Transcription factor 4 and its association with psychiatric disorders.
Teixeira JR, Szeto RA, Carvalho VMA, Muotri AR, Papes F. Teixeira JR, et al. Transl Psychiatry. 2021 Jan 5;11(1):19. doi: 10.1038/s41398-020-01138-0. Transl Psychiatry. 2021. PMID: 33414364 Free PMC article. Review.
Mutations in TCF4 cause a devastating autism spectrum disorder known as Pitt-Hopkins syndrome, characterized by a range of aberrant phenotypes including severe intellectual disability, absence of speech, delayed cognitive and motor development, and dysmorphic …
Mutations in TCF4 cause a devastating autism spectrum disorder known as Pitt-Hopkins syndrome, characterized by a range …
Drugging the methylome: DNA methylation and memory.
Kennedy AJ, Sweatt JD. Kennedy AJ, et al. Crit Rev Biochem Mol Biol. 2016 May-Jun;51(3):185-94. doi: 10.3109/10409238.2016.1150958. Epub 2016 Feb 25. Crit Rev Biochem Mol Biol. 2016. PMID: 26915423 Free PMC article. Review.
Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription.
Sweatt JD. Sweatt JD. Exp Mol Med. 2013 May 3;45(5):e21. doi: 10.1038/emm.2013.32. Exp Mol Med. 2013. PMID: 23640545 Free PMC article. Review.
TCF4 (transcription factor 4; E2-2, ITF2) is a transcription factor that when haplo-insufficient causes Pitt-Hopkins Syndrome (PTHS), an autism-spectrum disorder that is associated with pervasive developmental delay and severe intellectual disability. ...
TCF4 (transcription factor 4; E2-2, ITF2) is a transcription factor that when haplo-insufficient causes Pitt-Hopkins Syndro …
20 results