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 *

277 related articles for article (PubMed ID: 23315884)

  • 1. Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome.
    Calì F; Failla P; Chiavetta V; Ragalmuto A; Ruggeri G; Schinocca P; Schepis C; Romano V; Romano C
    Genet Mol Res; 2013 Jan; 12(3):2809-15. PubMed ID: 23315884
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography.
    Udaka T; Kurosawa K; Izumi K; Yoshida S; Tsukahara M; Okamoto N; Torii C; Kosaki R; Masuno M; Hosokai N; Takahashi T; Kosaki K
    Genet Test; 2006; 10(4):265-71. PubMed ID: 17253932
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Cryptic microdeletion of the CREBBP gene from t(1;16) (p36.2;p13.3) as a novel genetic defect causing Rubinstein-Taybi syndrome.
    Kim SR; Kim HJ; Kim YJ; Kwon JY; Kim JW; Kim SH
    Ann Clin Lab Sci; 2013; 43(4):450-6. PubMed ID: 24247805
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients.
    Stef M; Simon D; Mardirossian B; Delrue MA; Burgelin I; Hubert C; Marche M; Bonnet F; Gorry P; Longy M; Lacombe D; Coupry I; Arveiler B
    Eur J Hum Genet; 2007 Aug; 15(8):843-7. PubMed ID: 17473832
    [TBL] [Abstract][Full Text] [Related]  

  • 5. CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.
    Menke LA; van Belzen MJ; Alders M; Cristofoli F; ; Ehmke N; Fergelot P; Foster A; Gerkes EH; Hoffer MJ; Horn D; Kant SG; Lacombe D; Leon E; Maas SM; Melis D; Muto V; Park SM; Peeters H; Peters DJ; Pfundt R; van Ravenswaaij-Arts CM; Tartaglia M; Hennekam RC
    Am J Med Genet A; 2016 Oct; 170(10):2681-93. PubMed ID: 27311832
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A boy with classical Rubinstein-Taybi syndrome but no detectable mutation in the CREBBP and EP300 genes.
    Caglayan AO; Lechno S; Gumus H; Bartsch O; Fryns JP
    Genet Couns; 2011; 22(4):341-6. PubMed ID: 22303793
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Letter to the Editor: A Novel Mutation in the CREBBP Gene of a Korean Girl with Rubinstein-Taybi syndrome.
    Huh R; Cho SY; Kim J; Ki CS; Jin DK
    Ann Clin Lab Sci; 2015; 45(4):458-61. PubMed ID: 26275701
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Analysis of CBP (CREBBP) gene deletions in Rubinstein-Taybi syndrome patients using real-time quantitative PCR.
    Coupry I; Monnet L; Attia AA; Taine L; Lacombe D; Arveiler B
    Hum Mutat; 2004 Mar; 23(3):278-84. PubMed ID: 14974086
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome.
    Bartsch O; Rasi S; Delicado A; Dyack S; Neumann LM; Seemanová E; Volleth M; Haaf T; Kalscheuer VM
    Hum Genet; 2006 Sep; 120(2):179-86. PubMed ID: 16783566
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Rubinstein-Taybi syndrome and CREBBP c.201 202delTA mutation: a case presenting with varicella meningoencephalitis.
    Çaksen H; Bartsch O; Okur M; Temel H; Açikgoz M; Yilmaz C
    Genet Couns; 2009; 20(3):255-60. PubMed ID: 19852432
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.
    Bentivegna A; Milani D; Gervasini C; Castronovo P; Mottadelli F; Manzini S; Colapietro P; Giordano L; Atzeri F; Divizia MT; Uzielli ML; Neri G; Bedeschi MF; Faravelli F; Selicorni A; Larizza L
    BMC Med Genet; 2006 Oct; 7():77. PubMed ID: 17052327
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.
    Rusconi D; Negri G; Colapietro P; Picinelli C; Milani D; Spena S; Magnani C; Silengo MC; Sorasio L; Curtisova V; Cavaliere ML; Prontera P; Stangoni G; Ferrero GB; Biamino E; Fischetto R; Piccione M; Gasparini P; Salviati L; Selicorni A; Finelli P; Larizza L; Gervasini C
    Hum Genet; 2015 Jun; 134(6):613-26. PubMed ID: 25805166
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [CREBBP gene mutation in two boys with Rubinstein-Taybi syndrome].
    Zhang J; Wang C; Li M; Qiu Z
    Zhonghua Er Ke Za Zhi; 2014 Sep; 52(9):673-7. PubMed ID: 25476429
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Rubinstein-Taybi Syndrome and Epigenetic Alterations.
    Korzus E
    Adv Exp Med Biol; 2017; 978():39-62. PubMed ID: 28523540
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genotype-phenotype correlations in Rubinstein-Taybi syndrome.
    Schorry EK; Keddache M; Lanphear N; Rubinstein JH; Srodulski S; Fletcher D; Blough-Pfau RI; Grabowski GA
    Am J Med Genet A; 2008 Oct; 146A(19):2512-9. PubMed ID: 18792986
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic and clinical heterogeneity in Korean patients with Rubinstein-Taybi syndrome.
    Choi N; Kim HY; Lim BC; Chae JH; Kim SY; Ko JM
    Mol Genet Genomic Med; 2021 Oct; 9(10):e1791. PubMed ID: 34427995
    [TBL] [Abstract][Full Text] [Related]  

  • 17. New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.
    Pérez-Grijalba V; García-Oguiza A; López M; Armstrong J; García-Miñaur S; Mesa-Latorre JM; O'Callaghan M; Pineda Marfa M; Ramos-Arroyo MA; Santos-Simarro F; Seidel V; Domínguez-Garrido E
    Mol Genet Genomic Med; 2019 Nov; 7(11):e972. PubMed ID: 31566936
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.
    López M; García-Oguiza A; Armstrong J; García-Cobaleda I; García-Miñaur S; Santos-Simarro F; Seidel V; Domínguez-Garrido E
    BMC Med Genet; 2018 Mar; 19(1):36. PubMed ID: 29506490
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
    Eser M; Ayaz A; Yeşil G
    Turk J Pediatr; 2017; 59(5):601-603. PubMed ID: 29745126
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum.
    Hamilton MJ; Newbury-Ecob R; Holder-Espinasse M; Yau S; Lillis S; Hurst JA; Clement E; Reardon W; Joss S; Hobson E; Blyth M; Al-Shehhi M; Lynch SA; Suri M;
    Clin Dysmorphol; 2016 Oct; 25(4):135-45. PubMed ID: 27465822
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.