These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
173 related articles for article (PubMed ID: 32945094)
1. Langerhans cell histiocytosis in a young patient with Pitt-Hopkins syndrome. Macchiaiolo M; Panfili FM; Gonfiantini MV; Mastrogiorgio G; Buonuomo PS; Gaspari S; Longo D; Zollino M; Bartuli A Am J Med Genet A; 2020 Nov; 182(11):2746-2750. PubMed ID: 32945094 [TBL] [Abstract][Full Text] [Related]
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 Eur J Med Genet; 2017 Nov; 60(11):565-571. PubMed ID: 28807867 [TBL] [Abstract][Full Text] [Related]
3. A case of Pitt-hopkins Syndrome with de novo mutation in TCF4: Clinical features and treatment for epilepsy. Liu Y; Guo Y; Liu P; Li F; Yang C; Song J; Hu J; Xin D; Chen Z Int J Dev Neurosci; 2018 Jun; 67():51-54. PubMed ID: 29604340 [TBL] [Abstract][Full Text] [Related]
4. Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome. Thaxton C; Kloth AD; Clark EP; Moy SS; Chitwood RA; Philpot BD J Neurosci; 2018 Jan; 38(4):918-936. PubMed ID: 29222403 [TBL] [Abstract][Full Text] [Related]
5. A case of Pitt-Hopkins syndrome with absence of hyperventilation. Inati A; Abbas HA; Korjian S; Daaboul Y; Harajeily M; Saab R J Child Neurol; 2013 Dec; 28(12):1698-701. PubMed ID: 23248353 [TBL] [Abstract][Full Text] [Related]
6. Various haploinsufficiency mechanisms in Pitt-Hopkins syndrome. Sparber P; Filatova A; Anisimova I; Markova T; Voinova V; Chuhrova A; Tabakov V; Skoblov M Eur J Med Genet; 2020 Dec; 63(12):104088. PubMed ID: 33069932 [TBL] [Abstract][Full Text] [Related]
7. The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. Marangi G; Ricciardi S; Orteschi D; Lattante S; Murdolo M; Dallapiccola B; Biscione C; Lecce R; Chiurazzi P; Romano C; Greco D; Pettinato R; Sorge G; Pantaleoni C; Alfei E; Toldo I; Magnani C; Bonanni P; Martinez F; Serra G; Battaglia D; Lettori D; Vasco G; Baroncini A; Daolio C; Zollino M Am J Med Genet A; 2011 Jul; 155A(7):1536-45. PubMed ID: 21671391 [TBL] [Abstract][Full Text] [Related]
8. A typical variant in TCF4 exon 18 is not associated with Pitt-Hopkins syndrome but with a familial case of mild and nonspecific neurodevelopmental disorder. Aldeeri AA; Abu-El-Haija A Am J Med Genet A; 2023 Apr; 191(4):1070-1076. PubMed ID: 36574749 [TBL] [Abstract][Full Text] [Related]
9. Repurposing the Dihydropyridine Calcium Channel Inhibitor Nicardipine as a Na Ekins S; Puhl AC; Davidow A Pharm Res; 2020 Jun; 37(7):127. PubMed ID: 32529312 [TBL] [Abstract][Full Text] [Related]
10. Fatal gastrointestinal complications in Pitt-Hopkins syndrome. Koppen IJN; Menke LA; Westra WM; Struik F; Mesman S; van Wijk MP; Huisman SA Am J Med Genet A; 2023 Mar; 191(3):855-858. PubMed ID: 36511359 [TBL] [Abstract][Full Text] [Related]
11. Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient. Tripon F; Bogliș A; Micheu C; Streață I; Bănescu C Genes (Basel); 2020 May; 11(6):. PubMed ID: 32481733 [TBL] [Abstract][Full Text] [Related]
12. 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 HGG Adv; 2024 Jul; 5(3):100289. PubMed ID: 38571311 [TBL] [Abstract][Full Text] [Related]
13. Molecular and Cellular Function of Transcription Factor 4 in Pitt-Hopkins Syndrome. Chen HY; Bohlen JF; Maher BJ Dev Neurosci; 2021; 43(3-4):159-167. PubMed ID: 34134113 [TBL] [Abstract][Full Text] [Related]
14. Rescue of behavioral and electrophysiological phenotypes in a Pitt-Hopkins syndrome mouse model by genetic restoration of Kim H; Gao EB; Draper A; Berens NC; Vihma H; Zhang X; Higashi-Howard A; Ritola KD; Simon JM; Kennedy AJ; Philpot BD Elife; 2022 May; 11():. PubMed ID: 35535852 [TBL] [Abstract][Full Text] [Related]
15. Disordered breathing in a Pitt-Hopkins syndrome model involves Phox2b-expressing parafacial neurons and aberrant Nav1.8 expression. Cleary CM; James S; Maher BJ; Mulkey DK Nat Commun; 2021 Oct; 12(1):5962. PubMed ID: 34645823 [TBL] [Abstract][Full Text] [Related]
16. Functional consequences of TCF4 missense substitutions associated with Pitt-Hopkins syndrome, mild intellectual disability, and schizophrenia. Sirp A; Roots K; Nurm K; Tuvikene J; Sepp M; Timmusk T J Biol Chem; 2021 Dec; 297(6):101381. PubMed ID: 34748727 [TBL] [Abstract][Full Text] [Related]
17. Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. Marangi G; Ricciardi S; Orteschi D; Tenconi R; Monica MD; Scarano G; Battaglia D; Lettori D; Vasco G; Zollino M Am J Med Genet A; 2012 Jul; 158A(7):1604-11. PubMed ID: 22678594 [TBL] [Abstract][Full Text] [Related]
18. Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis. Mary L; Piton A; Schaefer E; Mattioli F; Nourisson E; Feger C; Redin C; Barth M; El Chehadeh S; Colin E; Coubes C; Faivre L; Flori E; Geneviève D; Capri Y; Perrin L; Fabre-Teste J; Timbolschi D; Verloes A; Olaso R; Boland A; Deleuze JF; Mandel JL; Gerard B; Giurgea I Eur J Hum Genet; 2018 Jul; 26(7):996-1006. PubMed ID: 29695756 [TBL] [Abstract][Full Text] [Related]
19. Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). Zweier C; Peippo MM; Hoyer J; Sousa S; Bottani A; Clayton-Smith J; Reardon W; Saraiva J; Cabral A; Gohring I; Devriendt K; de Ravel T; Bijlsma EK; Hennekam RC; Orrico A; Cohen M; Dreweke A; Reis A; Nurnberg P; Rauch A Am J Hum Genet; 2007 May; 80(5):994-1001. PubMed ID: 17436255 [TBL] [Abstract][Full Text] [Related]
20. A novel variant in the 3' UTR of the TCF4 gene likely causes Pitt-Hopkins syndrome: a case report. Zhao T; Yang F; Zhang B; Ren Y; Yuan J; Wang Y; Lu H; Yu G; Feng J Orphanet J Rare Dis; 2024 Oct; 19(1):368. PubMed ID: 39375747 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]