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8. 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]
9. Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects. Sepp M; Pruunsild P; Timmusk T Hum Mol Genet; 2012 Jul; 21(13):2873-88. PubMed ID: 22460224 [TBL] [Abstract][Full Text] [Related]
10. 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 Eur J Med Genet; 2016 Jun; 59(6-7):310-4. PubMed ID: 27132474 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
14. The basic helix-loop-helix transcription factor TCF4 impacts brain architecture as well as neuronal morphology and differentiation. Schoof M; Hellwig M; Harrison L; Holdhof D; Lauffer MC; Niesen J; Virdi S; Indenbirken D; Schüller U Eur J Neurosci; 2020 Jun; 51(11):2219-2235. PubMed ID: 31919899 [TBL] [Abstract][Full Text] [Related]
15. Disruption and deletion of the proximal part of TCF4 are associated with mild intellectual disability: About three new patients. Masson J; Pons L; Busa T; Missirian C; Lines M; Tevissen H; Diguet F; Rollat-Farnier PA; Lesca G; Sanlaville D; Schluth-Bolard C Eur J Med Genet; 2022 Apr; 65(4):104458. PubMed ID: 35189377 [TBL] [Abstract][Full Text] [Related]
16. Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome. Forrest M; Chapman RM; Doyle AM; Tinsley CL; Waite A; Blake DJ Hum Mutat; 2012 Dec; 33(12):1676-86. PubMed ID: 22777675 [TBL] [Abstract][Full Text] [Related]
17. Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. Whalen S; Héron D; Gaillon T; Moldovan O; Rossi M; Devillard F; Giuliano F; Soares G; Mathieu-Dramard M; Afenjar A; Charles P; Mignot C; Burglen L; Van Maldergem L; Piard J; Aftimos S; Mancini G; Dias P; Philip N; Goldenberg A; Le Merrer M; Rio M; Josifova D; Van Hagen JM; Lacombe D; Edery P; Dupuis-Girod S; Putoux A; Sanlaville D; Fischer R; Drévillon L; Briand-Suleau A; Metay C; Goossens M; Amiel J; Jacquette A; Giurgea I Hum Mutat; 2012 Jan; 33(1):64-72. PubMed ID: 22045651 [TBL] [Abstract][Full Text] [Related]
18. 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]
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20. Structural basis for preferential binding of human TCF4 to DNA containing 5-carboxylcytosine. Yang J; Horton JR; Li J; Huang Y; Zhang X; Blumenthal RM; Cheng X Nucleic Acids Res; 2019 Sep; 47(16):8375-8387. PubMed ID: 31081034 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]