PubMed (Bookshelf cited) for id: 370910

Year	Number of Results
1985	1
1993	2
1996	1
1997	2
2000	2
2001	1
2002	1
2003	1
2006	1
2007	4
2008	4
2009	2
2010	3
2011	6
2012	8
2013	1
2014	1
2015	1
2016	5
2017	2
2018	1
2024	0

1

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.

2

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

Bedeschi MF, Marangi G, Calvello MR, Ricciardi S, Leone FPC, Baccarin M, Guerneri S, Orteschi D, Murdolo M, Lattante S, Frangella S, Keena B, Harr MH, Zackai E, Zollino M. Bedeschi MF, et al. Eur J Med Genet. 2017 Nov;60(11):565-571. doi: 10.1016/j.ejmg.2017.08.004. Epub 2017 Aug 12. Eur J Med Genet. 2017. PMID: 28807867

3

Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy.

Wieben ED, Aleff RA, Tang X, Butz ML, Kalari KR, Highsmith EW, Jen J, Vasmatzis G, Patel SV, Maguire LJ, Baratz KH, Fautsch MP. Wieben ED, et al. Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):343-352. doi: 10.1167/iovs.16-20900. Invest Ophthalmol Vis Sci. 2017. PMID: 28118661 Free PMC article.

4

Neurodevelopmental models of transcription factor 4 deficiency converge on a common ion channel as a potential therapeutic target for Pitt Hopkins syndrome.

Rannals MD, Page SC, Campbell MN, Gallo RA, Mayfield B, Maher BJ. Rannals MD, et al. Rare Dis. 2016 Aug 5;4(1):e1220468. doi: 10.1080/21675511.2016.1220468. eCollection 2016. Rare Dis. 2016. PMID: 28032012 Free PMC article.

5

Tcf4 Regulates Synaptic Plasticity, DNA Methylation, and Memory Function.

Kennedy AJ, Rahn EJ, Paulukaitis BS, Savell KE, Kordasiewicz HB, Wang J, Lewis JW, Posey J, Strange SK, Guzman-Karlsson MC, Phillips SE, Decker K, Motley ST, Swayze EE, Ecker DJ, Michael TP, Day JJ, Sweatt JD. Kennedy AJ, et al. Cell Rep. 2016 Sep 6;16(10):2666-2685. doi: 10.1016/j.celrep.2016.08.004. Epub 2016 Aug 25. Cell Rep. 2016. PMID: 27568567 Free PMC article.

6

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

Maduro V, Pusey BN, Cherukuri PF, Atkins P, du Souich C, Rupps R, Limbos M, Adams DR, Bhatt SS, Eydoux P, Links AE, Lehman A, Malicdan MC, Mason CE, Morimoto M, Mullikin JC, Sear A, Van Karnebeek C, Stankiewicz P, Gahl WA, Toro C, Boerkoel CF. Maduro V, et al. Orphanet J Rare Dis. 2016 May 14;11(1):62. doi: 10.1186/s13023-016-0439-6. Orphanet J Rare Dis. 2016. PMID: 27179618 Free PMC article.

7

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

Kharbanda M, Kannike K, Lampe A, Berg J, Timmusk T, Sepp M. Kharbanda M, et al. Eur J Med Genet. 2016 Jun;59(6-7):310-4. doi: 10.1016/j.ejmg.2016.04.003. Epub 2016 Apr 28. Eur J Med Genet. 2016. PMID: 27132474

8

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

de Winter CF, Baas M, Bijlsma EK, van Heukelingen J, Routledge S, Hennekam RC. de Winter CF, et al. Orphanet J Rare Dis. 2016 Apr 12;11:37. doi: 10.1186/s13023-016-0422-2. Orphanet J Rare Dis. 2016. PMID: 27072915 Free PMC article.

9

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

Gaffney C, McNally P. Gaffney C, et al. Am J Med Genet A. 2015 Jun;167(6):1423. doi: 10.1002/ajmg.a.37034. Epub 2015 Apr 21. Am J Med Genet A. 2015. PMID: 25900839 No abstract available.

10

Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases.

Pham J, Shaw C, Pursley A, Hixson P, Sampath S, Roney E, Gambin T, Kang SH, Bi W, Lalani S, Bacino C, Lupski JR, Stankiewicz P, Patel A, Cheung SW. Pham J, et al. Eur J Hum Genet. 2014 Aug;22(8):969-78. doi: 10.1038/ejhg.2013.285. Epub 2014 Jan 8. Eur J Hum Genet. 2014. PMID: 24398791 Free PMC article.

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