213 related articles for article (PubMed ID: 33069932)
1. 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]
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. 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]
4. [Genetic analysis of a rare case of Pitt-Hopkins syndrome due to partial deletion of TCF4 gene].
Shen X; Qi F; Gu C
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Apr; 37(4):459-461. PubMed ID: 32219837
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. 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]
9. Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons.
Jung M; Häberle BM; Tschaikowsky T; Wittmann MT; Balta EA; Stadler VC; Zweier C; Dörfler A; Gloeckner CJ; Lie DC
Mol Autism; 2018; 9():20. PubMed ID: 29588831
[TBL] [Abstract][Full Text] [Related]
10. Mosaic 18q21.2 deletions including the TCF4 gene: a clinical report.
Rossi M; Labalme A; Cordier MP; Till M; Blanchard G; Dubois R; Guibaud L; Heissat S; Javouhey E; Lachaux A; Mure PY; Ville D; Edery P; Sanlaville D
Am J Med Genet A; 2012 Dec; 158A(12):3174-81. PubMed ID: 23165966
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
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. 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
Biochim Biophys Acta Mol Basis Dis; 2024 Jun; 1870(5):167178. PubMed ID: 38636614
[TBL] [Abstract][Full Text] [Related]
16. 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
J Child Neurol; 2018 Mar; 33(3):233-244. PubMed ID: 29318938
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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; ; Morleo M; Nigro V; Zollino M
Clin Genet; 2024 Jan; 105(1):81-86. PubMed ID: 37558216
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]
