BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

147 related articles for article (PubMed ID: 36574749)

  • 1. 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]  

  • 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 recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt-Hopkins syndrome.
    Popp B; Bienvenu T; Giurgea I; Metreau J; Kraus C; Reis A; Fischer J; Bralo MP; Tenorio-Castaño J; Lapunzina P; Almoguera B; Lopez-Grondona F; Sticht H; Zweier C
    Clin Genet; 2022 Dec; 102(6):517-523. PubMed ID: 35908153
    [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. 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. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 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. 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. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 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. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.