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.
147 related articles for article (PubMed ID: 10797422)
1. Rubinstein-Taybi syndrome caused by a De Novo reciprocal translocation t(2;16)(q36.3;p13.3). Petrij F; Dorsman JC; Dauwerse HG; Giles RH; Peeters T; Hennekam RC; Breuning MH; Peters DJ Am J Med Genet; 2000 May; 92(1):47-52. PubMed ID: 10797422 [TBL] [Abstract][Full Text] [Related]
2. Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. Petrij F; Dauwerse HG; Blough RI; Giles RH; van der Smagt JJ; Wallerstein R; Maaswinkel-Mooy PD; van Karnebeek CD; van Ommen GJ; van Haeringen A; Rubinstein JH; Saal HM; Hennekam RC; Peters DJ; Breuning MH J Med Genet; 2000 Mar; 37(3):168-76. PubMed ID: 10699051 [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. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Petrij F; Giles RH; Dauwerse HG; Saris JJ; Hennekam RC; Masuno M; Tommerup N; van Ommen GJ; Goodman RH; Peters DJ Nature; 1995 Jul; 376(6538):348-51. PubMed ID: 7630403 [TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. Construction of a 1.2-Mb contig surrounding, and molecular analysis of, the human CREB-binding protein (CBP/CREBBP) gene on chromosome 16p13.3. Giles RH; Petrij F; Dauwerse HG; den Hollander AI; Lushnikova T; van Ommen GJ; Goodman RH; Deaven LL; Doggett NA; Peters DJ; Breuning MH Genomics; 1997 May; 42(1):96-114. PubMed ID: 9177780 [TBL] [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. FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy. Bartsch O; Wagner A; Hinkel GK; Krebs P; Stumm M; Schmalenberger B; Böhm S; Balci S; Majewski F Eur J Hum Genet; 1999; 7(7):748-56. PubMed ID: 10573006 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. New CBP mutations in Brazilian patients with Rubinstein-Taybi syndrome. Suzuki KT; Torres LC; Sugayama SM; Aguiar Alves Bda C; Moreira-Filho CA; Carneiro-Sampaio M Clin Genet; 2013 Mar; 83(3):291-2. PubMed ID: 22591219 [No Abstract] [Full Text] [Related]
14. 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]
15. Detection of CBP rearrangements in acute myelogenous leukemia with t(8;16). Giles RH; Dauwerse JG; Higgins C; Petrij F; Wessels JW; Beverstock GC; Döhner H; Jotterand-Bellomo M; Falkenburg JH; Slater RM; van Ommen GJ; Hagemeijer A; van der Reijden BA; Breuning MH Leukemia; 1997 Dec; 11(12):2087-96. PubMed ID: 9447825 [TBL] [Abstract][Full Text] [Related]
16. Rubinstein-Taybi syndrome and familial Mediterranean fever in a single patient: two distinct genetic diseases located on chromosome 16p13.3. Kalyoncu U; Tufan A; Karadag O; Kisacik B; Akdogan A; Calguneri M J Natl Med Assoc; 2006 Oct; 98(10):1692-3. PubMed ID: 17052063 [TBL] [Abstract][Full Text] [Related]
18. 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]
19. [Clinical sequelae of mutation of the CBP gene]. Smardová J; Smarda J Cas Lek Cesk; 1999 Dec; 138(24):739-43. PubMed ID: 10746038 [TBL] [Abstract][Full Text] [Related]
20. 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] [Next] [New Search]