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 *

345 related articles for article (PubMed ID: 28807867)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 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. 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]  

  • 10. 263.4 kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype.
    Kousoulidou L; Tanteles G; Moutafi M; Sismani C; Patsalis PC; Anastasiadou V
    Eur J Med Genet; 2013 Jun; 56(6):314-8. PubMed ID: 23528641
    [TBL] [Abstract][Full Text] [Related]  

  • 11. DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants.
    van der Laan L; Lauffer P; Rooney K; Silva A; Haghshenas S; Relator R; Levy MA; Trajkova S; Huisman SA; Bijlsma EK; Kleefstra T; van Bon BW; Baysal Ö; Zweier C; Palomares-Bralo M; Fischer J; Szakszon K; Faivre L; Piton A; Mesman S; Hochstenbach R; Elting MW; van Hagen JM; Plomp AS; Mannens MMAM; Alders M; van Haelst MM; Ferrero GB; Brusco A; Henneman P; Sweetser DA; Sadikovic B; Vitobello A; Menke LA
    HGG Adv; 2024 Jul; 5(3):100289. PubMed ID: 38571311
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome.
    Kharbanda M; Kannike K; Lampe A; Berg J; Timmusk T; Sepp M
    Eur J Med Genet; 2016 Jun; 59(6-7):310-4. PubMed ID: 27132474
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 18.