BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

271 related articles for article (PubMed ID: 23063576)

  • 1. Duplication 16p13.3 and the CREBBP gene: confirmation of the phenotype.
    Demeer B; Andrieux J; Receveur A; Morin G; Petit F; Julia S; Plessis G; Martin-Coignard D; Delobel B; Firth HV; Thuresson AC; Lanco Dosen S; Sjörs K; Le Caignec C; Devriendt K; Mathieu-Dramard M
    Eur J Med Genet; 2013 Jan; 56(1):26-31. PubMed ID: 23063576
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome.
    Thienpont B; Béna F; Breckpot J; Philip N; Menten B; Van Esch H; Scalais E; Salamone JM; Fong CT; Kussmann JL; Grange DK; Gorski JL; Zahir F; Yong SL; Morris MM; Gimelli S; Fryns JP; Mortier G; Friedman JM; Villard L; Bottani A; Vermeesch JR; Cheung SW; Devriendt K
    J Med Genet; 2010 Mar; 47(3):155-61. PubMed ID: 19833603
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Maternally inherited autosomal dominant intellectual disability caused by 16p13.3 microduplication.
    Lee CG; Cho E; Ahn YM
    Eur J Med Genet; 2016 Apr; 59(4):210-4. PubMed ID: 26873618
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Phenotypic expansion of the interstitial 16p13.3 duplication: a case report and review of the literature.
    Li Z; Liu J; Li H; Peng Y; Lv W; Long Z; Liang D; Wu L
    Gene; 2013 Dec; 531(2):502-5. PubMed ID: 24035902
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Duplication of the Rubinstein-Taybi region on 16p13.3 is associated with a distinctive phenotype.
    Marangi G; Leuzzi V; Orteschi D; Grimaldi ME; Lecce R; Neri G; Zollino M
    Am J Med Genet A; 2008 Sep; 146A(18):2313-7. PubMed ID: 18688873
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.
    Menke LA; ; Gardeitchik T; Hammond P; Heimdal KR; Houge G; Hufnagel SB; Ji J; Johansson S; Kant SG; Kinning E; Leon EL; Newbury-Ecob R; Paolacci S; Pfundt R; Ragge NK; Rinne T; Ruivenkamp C; Saitta SC; Sun Y; Tartaglia M; Terhal PA; van Essen AJ; Vigeland MD; Xiao B; Hennekam RC
    Am J Med Genet A; 2018 Apr; 176(4):862-876. PubMed ID: 29460469
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Interstitial 16p13.3 microduplication: case report and critical review of genotype-phenotype correlation.
    Mattina T; Palumbo O; Stallone R; Pulvirenti RM; Di Dio L; Pavone P; Carella M; Pavone L
    Eur J Med Genet; 2012 Dec; 55(12):747-52. PubMed ID: 23032921
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome.
    Lai AH; Brett MS; Chin WH; Lim EC; Ng JS; Tan EC
    Gene; 2012 May; 499(1):182-5. PubMed ID: 22426292
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 16p13 microduplication without CREBBP involvement: Moving toward a phenotype delineation.
    Ciaccio C; Tucci A; Scuvera G; Estienne M; Esposito S; Milani D
    Eur J Med Genet; 2017 Mar; 60(3):159-162. PubMed ID: 28007608
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. A microduplication of the Rubinstein-Taybi region on 16p13.3 in a girl with a bilateral complete cleft lip and palate and severe mental retardation.
    Tüysüz B; van Bon BWM; Alp Z; Güzel Z; Veltman JA; de Vries BBA
    Clin Dysmorphol; 2012 Oct; 21(4):204-207. PubMed ID: 22664659
    [No Abstract]   [Full Text] [Related]  

  • 16. Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case report.
    Balci S; Ergün MA; Yüksel-Konuk EB; Bartsch O
    Turk J Pediatr; 2008; 50(3):265-8. PubMed ID: 18773673
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome.
    Taine L; Goizet C; Wen ZQ; Petrij F; Breuning MH; Aymé S; Saura R; Arveiler B; Lacombe D
    Am J Med Genet; 1998 Jul; 78(3):267-70. PubMed ID: 9677064
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Clinical report: AN INTERSTITIAL deletion of 16p13.11 detected by array CGH in a patient with infantile spasms.
    Balasubramanian M; Smith K; Mordekar SR; Parker MJ
    Eur J Med Genet; 2011; 54(3):314-8. PubMed ID: 21315189
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Further delineation of novel 1p36 rearrangements by array-CGH analysis: narrowing the breakpoints and clarifying the "extended" phenotype.
    Giannikou K; Fryssira H; Oikonomakis V; Syrmou A; Kosma K; Tzetis M; Kitsiou-Tzeli S; Kanavakis E
    Gene; 2012 Sep; 506(2):360-8. PubMed ID: 22766398
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.