141 related articles for article (PubMed ID: 25182255)
1. [Pitt-Hopkins syndrome - own experience on the base of two case reports and literature review with special emphasis on differential diagnosis].
Stembalska A; Smigiel R
Dev Period Med; 2014; 18(2):169-75. PubMed ID: 25182255
[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. Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation.
Taddeucci G; Bonuccelli A; Mantellassi I; Orsini A; Tarantino E
Ital J Pediatr; 2010 Feb; 36():12. PubMed ID: 20205897
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Pitt-Hopkins Syndrome.
Peippo M; Ignatius J
Mol Syndromol; 2012 Apr; 2(3-5):171-180. PubMed ID: 22670138
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge.
Marangi G; Zollino M
J Pediatr Genet; 2015 Sep; 4(3):168-76. PubMed ID: 27617128
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. 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]
11. 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]
12. Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations.
Rosenfeld JA; Leppig K; Ballif BC; Thiese H; Erdie-Lalena C; Bawle E; Sastry S; Spence JE; Bandholz A; Surti U; Zonana J; Keller K; Meschino W; Bejjani BA; Torchia BS; Shaffer LG
Genet Med; 2009 Nov; 11(11):797-805. PubMed ID: 19938247
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Molecular Mechanisms of Transcription Factor 4 in Pitt Hopkins Syndrome.
Rannals MD; Maher BJ
Curr Genet Med Rep; 2017 Mar; 5(1):1-7. PubMed ID: 30775158
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. A case of Pitt-Hopkins syndrome presented with Angelman-like syndromic phenotypes.
Hong SY; Chou IC; Lin WD; Tsai FJ
Biomedicine (Taipei); 2016 Dec; 6(4):25. PubMed ID: 27864810
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.
Maduro V; Pusey BN; Cherukuri PF; Atkins P; du Souich C; Rupps R; Limbos M; Adams DR; Bhatt SS; Eydoux P; Links AE; Lehman A; Malicdan MC; Mason CE; Morimoto M; Mullikin JC; Sear A; Van Karnebeek C; Stankiewicz P; Gahl WA; Toro C; Boerkoel CF
Orphanet J Rare Dis; 2016 May; 11(1):62. PubMed ID: 27179618
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]