186 related articles for article (PubMed ID: 10573006)
1. 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]
2. 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]
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. 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]
5. Rubinstein-Taybi syndrome: clinical and molecular cytogenetic studies.
Hou JW
Acta Paediatr Taiwan; 2005; 46(3):143-8. PubMed ID: 16231561
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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]
10. [Rubinstein-Taybi syndrome].
Lacombe D
Arch Pediatr; 1994 Jul; 1(7):681-3. PubMed ID: 7987469
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
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. 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]
16. [Rubinstein-Taybi syndrome].
Tsukahara M; Tsujino K
Ryoikibetsu Shokogun Shirizu; 2000; (30 Pt 5):241-3. PubMed ID: 11057213
[No Abstract] [Full Text] [Related]
17. 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]
18. 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]
19. 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]
20. Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome.
Murata T; Kurokawa R; Krones A; Tatsumi K; Ishii M; Taki T; Masuno M; Ohashi H; Yanagisawa M; Rosenfeld MG; Glass CK; Hayashi Y
Hum Mol Genet; 2001 May; 10(10):1071-6. PubMed ID: 11331617
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
