BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

105 related articles for article (PubMed ID: 11057213)

  • 21. Rubinstein-taybi syndrome: a female patient with a de novo reciprocal translocation t(2; 16)(q36.3; p13.3) and dysgranulopoiesis.
    Torres LC; de Lourdes Lopes Chauffaille M; Delboni TP; Okay TS; Carneiro-Sampaio M; Sugayama S
    Clinics (Sao Paulo); 2010; 65(1):107-9. PubMed ID: 20126353
    [No Abstract]   [Full Text] [Related]  

  • 22. Two sisters with different chromosomal microdeletions: Rubinstein-Taybi syndrome and 22q deletion syndrome.
    Can B; Qu Y; Jackson LG; Floyd M; Say B
    Clin Genet; 1998 Oct; 54(4):371-2. PubMed ID: 9831356
    [No Abstract]   [Full Text] [Related]  

  • 23. 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]  

  • 24. Gonadal sex cord stromal tumor in a patient with Rubinstein-Taybi syndrome.
    Kurosawa K; Fukutani K; Masuno M; Kawame H; Ochiai Y
    Pediatr Int; 2002 Jun; 44(3):330-2. PubMed ID: 11982910
    [No Abstract]   [Full Text] [Related]  

  • 25. What's right with my mouse model? New insights into the molecular and cellular basis of cognition from mouse models of Rubinstein-Taybi Syndrome.
    Josselyn SA
    Learn Mem; 2005; 12(2):80-3. PubMed ID: 15805305
    [No Abstract]   [Full Text] [Related]  

  • 26. 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]  

  • 27. Truncated CBP protein leads to classical Rubinstein-Taybi syndrome phenotypes in mice: implications for a dominant-negative mechanism.
    Oike Y; Hata A; Mamiya T; Kaname T; Noda Y; Suzuki M; Yasue H; Nabeshima T; Araki K; Yamamura K
    Hum Mol Genet; 1999 Mar; 8(3):387-96. PubMed ID: 9949198
    [TBL] [Abstract][Full Text] [Related]  

  • 28. [Rubinstein-Taybi syndrome: a familial form ].
    El Hafidi N; Ghanimi Z; Gaouzi A; Benhamou B; Alaoui-M'sseffer F
    Arch Pediatr; 2004 Aug; 11(8):978-9. PubMed ID: 15288097
    [No Abstract]   [Full Text] [Related]  

  • 29. Submicroscopic deletions at 16p13.3 in Rubinstein-Taybi syndrome: frequency and clinical manifestations in a North American population.
    Wallerstein R; Anderson CE; Hay B; Gupta P; Gibas L; Ansari K; Cowchock FS; Weinblatt V; Reid C; Levitas A; Jackson L
    J Med Genet; 1997 Mar; 34(3):203-6. PubMed ID: 9132490
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. 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]  

  • 32. Rubinstein-Taybi syndrome.
    Hennekam RC
    Eur J Hum Genet; 2006 Sep; 14(9):981-5. PubMed ID: 16868563
    [TBL] [Abstract][Full Text] [Related]  

  • 33. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.
    Bartsch O; Schmidt S; Richter M; Morlot S; Seemanová E; Wiebe G; Rasi S
    Hum Genet; 2005 Sep; 117(5):485-93. PubMed ID: 16021471
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Rubinstein-Taybi syndrome with multiple flamboyant keloids.
    Hendrix JD; Greer KE
    Cutis; 1996 May; 57(5):346-8. PubMed ID: 8726717
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Expanding the phenotype of duplication of the Rubinstein-Taybi region on 16p13.3.
    Dallapiccola B; Bernardini L; Novelli A; Mingarelli R
    Am J Med Genet A; 2009 Dec; 149A(12):2867-70. PubMed ID: 19921635
    [No Abstract]   [Full Text] [Related]  

  • 36. Rubinstein-Taybi syndrome: clinical and molecular overview.
    Roelfsema JH; Peters DJ
    Expert Rev Mol Med; 2007 Aug; 9(23):1-16. PubMed ID: 17942008
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome.
    Blough RI; Petrij F; Dauwerse JG; Milatovich-Cherry A; Weiss L; Saal HM; Rubinstein JH
    Am J Med Genet; 2000 Jan; 90(1):29-34. PubMed ID: 10602114
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Rubinstein-Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: a contiguous gene syndrome?
    Wójcik C; Volz K; Ranola M; Kitch K; Karim T; O'Neil J; Smith J; Torres-Martinez W
    Am J Med Genet A; 2010 Feb; 152A(2):479-83. PubMed ID: 20101707
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome.
    Czeschik JC; Albrecht B; Kayserili H; Kuechler A; Wagner N; Wieczorek D; Lüdecke HJ
    Clin Dysmorphol; 2014 Apr; 23(2):67-70. PubMed ID: 24561647
    [No Abstract]   [Full Text] [Related]  

  • 40. Chromosome aberrations in Rubinstein-Taybi syndrome.
    Imaizumi K; Kurosawa K; Masuno M; Tsukahara M; Kuroki Y
    Clin Genet; 1993 Apr; 43(4):215-6. PubMed ID: 8330456
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.