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 *

274 related articles for article (PubMed ID: 18728071)

  • 1. Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.
    Zweier C; Sticht H; Bijlsma EK; Clayton-Smith J; Boonen SE; Fryer A; Greally MT; Hoffmann L; den Hollander NS; Jongmans M; Kant SG; King MD; Lynch SA; McKee S; Midro AT; Park SM; Ricotti V; Tarantino E; Wessels M; Peippo M; Rauch A
    J Med Genet; 2008 Nov; 45(11):738-44. PubMed ID: 18728071
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4.
    Brockschmidt A; Todt U; Ryu S; Hoischen A; Landwehr C; Birnbaum S; Frenck W; Radlwimmer B; Lichter P; Engels H; Driever W; Kubisch C; Weber RG
    Hum Mol Genet; 2007 Jun; 16(12):1488-94. PubMed ID: 17478476
    [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. Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
    de Pontual L; Mathieu Y; Golzio C; Rio M; Malan V; Boddaert N; Soufflet C; Picard C; Durandy A; Dobbie A; Heron D; Isidor B; Motte J; Newburry-Ecob R; Pasquier L; Tardieu M; Viot G; Jaubert F; Munnich A; Colleaux L; Vekemans M; Etchevers H; Lyonnet S; Amiel J
    Hum Mutat; 2009 Apr; 30(4):669-76. PubMed ID: 19235238
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. TCF4 deletions in Pitt-Hopkins Syndrome.
    Giurgea I; Missirian C; Cacciagli P; Whalen S; Fredriksen T; Gaillon T; Rankin J; Mathieu-Dramard M; Morin G; Martin-Coignard D; Dubourg C; Chabrol B; Arfi J; Giuliano F; Claude Lambert J; Philip N; Sarda P; Villard L; Goossens M; Moncla A
    Hum Mutat; 2008 Nov; 29(11):E242-51. PubMed ID: 18781613
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 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. 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]  

  • 10. Two percent of patients suspected of having Angelman syndrome have TCF4 mutations.
    Takano K; Lyons M; Moyes C; Jones J; Schwartz CE
    Clin Genet; 2010 Sep; 78(3):282-8. PubMed ID: 20184619
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical and mutational spectrum of Mowat-Wilson syndrome.
    Zweier C; Thiel CT; Dufke A; Crow YJ; Meinecke P; Suri M; Ala-Mello S; Beemer F; Bernasconi S; Bianchi P; Bier A; Devriendt K; Dimitrov B; Firth H; Gallagher RC; Garavelli L; Gillessen-Kaesbach G; Hudgins L; Kääriäinen H; Karstens S; Krantz I; Mannhardt A; Medne L; Mücke J; Kibaek M; Krogh LN; Peippo M; Rittinger O; Schulz S; Schelley SL; Temple IK; Dennis NR; Van der Knaap MS; Wheeler P; Yerushalmi B; Zenker M; Seidel H; Lachmeijer A; Prescott T; Kraus C; Lowry RB; Rauch A
    Eur J Med Genet; 2005; 48(2):97-111. PubMed ID: 16053902
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mosaic microdeletion 18q21 as a cause of mental retardation.
    Stavropoulos DJ; MacGregor DL; Yoon G
    Eur J Med Genet; 2010; 53(6):396-9. PubMed ID: 20813211
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. 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]  

  • 17. "Mowat-Wilson" syndrome with and without Hirschsprung disease is a distinct, recognizable multiple congenital anomalies-mental retardation syndrome caused by mutations in the zinc finger homeo box 1B gene.
    Zweier C; Albrecht B; Mitulla B; Behrens R; Beese M; Gillessen-Kaesbach G; Rott HD; Rauch A
    Am J Med Genet; 2002 Mar; 108(3):177-81. PubMed ID: 11891681
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. 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]  

    [Next]    [New Search]
    of 14.