PubMed for id: 370910

Year	Number of Results
1981	1
1984	2
1993	1
1996	1
1997	2
1998	1
1999	2
2000	1
2001	2
2002	3
2003	6
2004	5
2005	5
2006	5
2007	5
2008	11
2009	6
2010	9
2011	11
2012	18
2013	12
2014	12
2015	11
2016	21
2017	19
2018	21
2019	13
2020	24
2021	26
2022	21
2023	20
2024	10

1

Tcf4 dysfunction alters dorsal and ventral cortical neurogenesis in Pitt-Hopkins syndrome mouse model showing sexual dimorphism.

Espinoza F, Carrazana R, Retamal-Fredes E, Ávila D, Papes F, Muotri AR, Ávila A. Espinoza F, et al. Biochim Biophys Acta Mol Basis Dis. 2024 Apr 16;1870(5):167178. doi: 10.1016/j.bbadis.2024.167178. Online ahead of print. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 38636614

2

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.

van der Laan L, Lauffer P, Rooney K, Silva A, Haghshenas S, Relator R, Levy MA, Trajkova S, Huisman SA, Bijlsma EK, Kleefstra T, van Bon BW, Baysal Ö, Zweier C, Palomares-Bralo M, Fischer J, Szakszon K, Faivre L, Piton A, Mesman S, Hochstenbach R, Elting MW, van Hagen JM, Plomp AS, Mannens MMAM, Alders M, van Haelst MM, Ferrero GB, Brusco A, Henneman P, Sweetser DA, Sadikovic B, Vitobello A, Menke LA. van der Laan L, et al. HGG Adv. 2024 Apr 2:100289. doi: 10.1016/j.xhgg.2024.100289. Online ahead of print. HGG Adv. 2024. PMID: 38571311 Free article.

3

Complex visceral hyperalgesia in an adolescent with Pitt-Hopkins syndrome.

Reaney L, Collins A. Reaney L, et al. BMJ Case Rep. 2024 Feb 19;17(2):e258257. doi: 10.1136/bcr-2023-258257. BMJ Case Rep. 2024. PMID: 38373809

4

Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt-Hopkins syndrome: a retrospective study.

Zhao T, Wu S, Shen Y, Leng J, Genchev GZ, Lu H, Feng J. Zhao T, et al. Orphanet J Rare Dis. 2024 Feb 8;19(1):51. doi: 10.1186/s13023-024-03055-7. Orphanet J Rare Dis. 2024. PMID: 38331897 Free PMC article.

5

Complex craniosynostosis in Pitt-Hopkins Syndrome: Case report in twins.

Melo JRT, Freire Peixoto ARL, Souza DML. Melo JRT, et al. Pediatr Neurosurg. 2024 Jan 19. doi: 10.1159/000536380. Online ahead of print. Pediatr Neurosurg. 2024. PMID: 38246161

6

A patient with Pitt-Hopkins syndrome with concomitant common variable immunodeficiency.

Malik S, Jeanpierre L, Cianferoni A, Ruffner M, Sullivan KE. Malik S, et al. Am J Med Genet A. 2024 Apr;194(4):e63490. doi: 10.1002/ajmg.a.63490. Epub 2023 Dec 8. Am J Med Genet A. 2024. PMID: 38066705

7

[Analysis of genetic variant in a child with Pitt-Hopkins syndrome].

Zhu S, Zhang Y, Zhang Y. Zhu S, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Dec 10;40(12):1556-1559. doi: 10.3760/cma.j.cn511374-20220425-00278. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37994142 Chinese.

8

Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype.

Pasquetti D, L'Erario FF, Marangi G, Panfili A, Chiurazzi P, Sonnini E, Orteschi D, Alfieri P; TUDP Study Group; Morleo M, Nigro V, Zollino M. Pasquetti D, et al. Clin Genet. 2024 Jan;105(1):81-86. doi: 10.1111/cge.14414. Epub 2023 Aug 9. Clin Genet. 2024. PMID: 37558216

9

[Genetic analysis of a child with Pitt-Hopkins syndrome due to a novel variant of TCF4 gene derived from low percentage maternal mosaicism].

Tang J, Ling J, Zhang C, Hao S, Ma J, Li J, Zhao L, Wang Y, Hui L. Tang J, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Jun 10;40(6):680-685. doi: 10.3760/cma.j.cn511374-20220826-00581. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023. PMID: 37212002 Chinese.

10

Promyelinating drugs promote functional recovery in an autism spectrum disorder mouse model of Pitt-Hopkins syndrome.

Bohlen JF, Cleary CM, Das D, Sripathy SR, Sadowski N, Shim G, Kenney RF, Buchler IP, Banerji T, Scanlan TS, Mulkey DK, Maher BJ. Bohlen JF, et al. Brain. 2023 Aug 1;146(8):3331-3346. doi: 10.1093/brain/awad057. Brain. 2023. PMID: 37068912 Free PMC article.

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