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 *

129 related articles for article (PubMed ID: 24561647)

  • 1. 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]  

  • 2. 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]  

  • 3. Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3).
    Imaizumi K; Kuroki Y
    Am J Med Genet; 1991 Mar; 38(4):636-9. PubMed ID: 2063911
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects.
    Hennekam RC; Tilanus M; Hamel BC; Voshart-van Heeren H; Mariman EC; van Beersum SE; van den Boogaard MJ; Breuning MH
    Am J Hum Genet; 1993 Feb; 52(2):255-62. PubMed ID: 8430692
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A report of a new case of an interstitial deletion at 3p25.3 and expansion of the clinical phenotype.
    Bownass L; Lunt P; Williams C; Woodbridge T; Ellis M; Scurr I
    Clin Dysmorphol; 2014 Apr; 23(2):63-66. PubMed ID: 24561646
    [No Abstract]   [Full Text] [Related]  

  • 6. Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3).
    Tommerup N; van der Hagen CB; Heiberg A
    Am J Med Genet; 1992 Sep; 44(2):237-41. PubMed ID: 1456298
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Expanding the phenotypic spectrum in EP300-related Rubinstein-Taybi syndrome.
    Solomon BD; Bodian DL; Khromykh A; Mora GG; Lanpher BC; Iyer RK; Baveja R; Vockley JG; Niederhuber JE
    Am J Med Genet A; 2015 May; 167A(5):1111-6. PubMed ID: 25712426
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.
    Breuning MH; Dauwerse HG; Fugazza G; Saris JJ; Spruit L; Wijnen H; Tommerup N; van der Hagen CB; Imaizumi K; Kuroki Y; van den Boogaard MJ; de Pater JM; Mariman EC; Hamel BC; Himmelbauer H; Frischauf AM; Stallings R; Beverstock GC; van Ommen GJ; Hennekam RC
    Am J Hum Genet; 1993 Feb; 52(2):249-54. PubMed ID: 8430691
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein-Taybi syndrome.
    Masuno M; Imaizumi K; Kurosawa K; Makita Y; Petrij F; Dauwerse HG; Breuning MH; Kuroki Y
    Am J Med Genet; 1994 Dec; 53(4):352-4. PubMed ID: 7864045
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. [Rubinstein-Taybi syndrome].
    Tsukahara M; Tsujino K
    Ryoikibetsu Shokogun Shirizu; 2000; (30 Pt 5):241-3. PubMed ID: 11057213
    [No Abstract]   [Full Text] [Related]  

  • 13. [Rubinstein-Taybi syndrome--a report of three cases].
    Chen YZ; Ma QY; Zeng LH
    Yan Ke Xue Bao; 1989 Dec; 5(3-4):92-5. PubMed ID: 2702181
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients.
    McGaughran JM; Gaunt L; Dore J; Petrij F; Dauwerse HG; Donnai D
    J Med Genet; 1996 Jan; 33(1):82-3. PubMed ID: 8825057
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Apparent dominant transmission of the Rubinstein-Taybi syndrome.
    Marion RW; Garcia DM; Karasik JB
    Am J Med Genet; 1993 May; 46(3):284-7. PubMed ID: 8488872
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Confirmation of assignment of a locus for Rubinstein-Taybi syndrome gene to 16p13.3.
    Lacombe D; Saura R; Taine L; Battin J
    Am J Med Genet; 1992 Sep; 44(1):126-8. PubMed ID: 1519642
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. Anophthalmia with cleft palate and micrognathia: a new syndrome or an unusual presentation of Rubinstein-Taybi syndrome?
    Fryns JP
    J Med Genet; 1995 Aug; 32(8):668. PubMed ID: 7473666
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.