170 related articles for article (PubMed ID: 38331897)
1. 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
Orphanet J Rare Dis; 2024 Feb; 19(1):51. PubMed ID: 38331897
[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. 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]
5. 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]
6. 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]
7. 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]
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. 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]
10. 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]
11. 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]
12. 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]
13. Pitt-Hopkins syndrome: phenotypic and genotypic description of four unrelated patients and structural analysis of corresponding missense mutations.
Zhao T; Genchev GZ; Wu S; Yu G; Lu H; Feng J
Neurogenetics; 2021 Jul; 22(3):161-169. PubMed ID: 34128147
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription.
Sweatt JD
Exp Mol Med; 2013 May; 45(5):e21. PubMed ID: 23640545
[TBL] [Abstract][Full Text] [Related]
20. Two types of early epileptic encephalopathy in a Pitt-Hopkins syndrome patient with a novel TCF4 mutation.
Kirikae H; Uematsu M; Numata-Uematsu Y; Saijo N; Katata Y; Oikawa Y; Kikuchi A; Yanagi K; Kaname T; Haginoya K; Kure S
Brain Dev; 2022 Feb; 44(2):148-152. PubMed ID: 34579981
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
