BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

215 related articles for article (PubMed ID: 22335494)

  • 1. Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome.
    Steinbusch CV; van Roozendaal KE; Tserpelis D; Smeets EE; Kranenburg-de Koning TJ; de Waal KH; Zweier C; Rauch A; Hennekam RC; Blok MJ; Schrander-Stumpel CT
    Clin Genet; 2013 Jan; 83(1):73-7. PubMed ID: 22335494
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype.
    Takano K; Tan WH; Irons MB; Jones JR; Schwartz CE
    Clin Genet; 2011 Dec; 80(6):600-1. PubMed ID: 22040220
    [No Abstract]   [Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. Development, cognition, and behaviour in Pitt-Hopkins syndrome.
    Van Balkom ID; Vuijk PJ; Franssens M; Hoek HW; Hennekam RC
    Dev Med Child Neurol; 2012 Oct; 54(10):925-31. PubMed ID: 22712893
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome.
    Lehalle D; Williams C; Siu VM; Clayton-Smith J
    Am J Med Genet A; 2011 Jul; 155A(7):1685-9. PubMed ID: 21671383
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders.
    Ghosh PS; Friedman NR; Ghosh D
    J Child Neurol; 2012 Dec; 27(12):1602-6. PubMed ID: 22378661
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.