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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]
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]