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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

179 related articles for article (PubMed ID: 33179233)

  • 1. [Genetic analysis of a case with Pitt-Hopkins syndrome due to variant of TCF4 gene].
    Ma J; Zhang H; Zhang K; Lyu Y; Gao M; Wang D; Gai Z; Liu Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Nov; 37(11):1253-1256. PubMed ID: 33179233
    [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. 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]  

  • 5. [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]  

  • 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. 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]  

  • 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. 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]  

  • 10. Two unrelated individuals carrying rare mosaic deletions in TCF4 gene.
    Kousoulidou L; Alexandrou A; Papaevripidou I; Evangelidou P; Tanteles G; Anastasiadou VC; Sismani C
    Am J Med Genet A; 2019 Jan; 179(1):134-138. PubMed ID: 30450687
    [No Abstract]   [Full Text] [Related]  

  • 11. [Analysis of a case with Mowat-Wilson syndrome caused by ZEB2 gene variant].
    Ma J; Liu Y; Zhang K; Lyu Y; Gao M; Wang D; Gai Z; Liu Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 May; 37(5):539-542. PubMed ID: 32335881
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Skeletal muscle vulnerability in a child with Pitt-Hopkins syndrome.
    Chiu C; Küchler A; Depienne C; Preuße C; Marina AD; Reis A; Kaiser FJ; Nolte K; Hentschel A; Schara-Schmidt U; Kölbel H; Roos A
    Skelet Muscle; 2024 Jul; 14(1):15. PubMed ID: 39026379
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Genetic analysis of a child with Pitt-Hopkins syndrome due to a novel variant of TCF4 gene derived from low percentage maternal mosaicism].
    Tang J; Ling J; Zhang C; Hao S; Ma J; Li J; Zhao L; Wang Y; Hui L
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jun; 40(6):680-685. PubMed ID: 37212002
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. [Pitt-Hopkins syndrome caused by TCF4 gene novel mutation in a child].
    Liu JH; Zhang T; Tan JF; Zhu XF
    Zhonghua Er Ke Za Zhi; 2023 Jun; 61(6):556-557. PubMed ID: 37312469
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 9.