169 related articles for article (PubMed ID: 12070251)
1. Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome.
Coupry I; Roudaut C; Stef M; Delrue MA; Marche M; Burgelin I; Taine L; Cruaud C; Lacombe D; Arveiler B
J Med Genet; 2002 Jun; 39(6):415-21. PubMed ID: 12070251
[No Abstract] [Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. [Rubinstein-Taybi syndrome].
Tsukahara M; Tsujino K
Ryoikibetsu Shokogun Shirizu; 2000; (30 Pt 5):241-3. PubMed ID: 11057213
[No 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. 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]
8. Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.
Bartsch O; Locher K; Meinecke P; Kress W; Seemanová E; Wagner A; Ostermann K; Rödel G
J Med Genet; 2002 Jul; 39(7):496-501. PubMed ID: 12114483
[No Abstract] [Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
Roelfsema JH; White SJ; Ariyürek Y; Bartholdi D; Niedrist D; Papadia F; Bacino CA; den Dunnen JT; van Ommen GJ; Breuning MH; Hennekam RC; Peters DJ
Am J Hum Genet; 2005 Apr; 76(4):572-80. PubMed ID: 15706485
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. Multiple meningiomas in a patient with Rubinstein-Taybi syndrome. Case report.
Verstegen MJ; van den Munckhof P; Troost D; Bouma GJ
J Neurosurg; 2005 Jan; 102(1):167-8. PubMed ID: 15658110
[TBL] [Abstract][Full Text] [Related]
16. [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]
17. 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]
18. Rubinstein-Taybi syndrome with multiple pilomatricomas: The first case diagnosed by CREBBP mutation analysis.
Rokunohe D; Nakano H; Akasaka E; Toyomaki Y; Sawamura D
J Dermatol Sci; 2016 Sep; 83(3):240-2. PubMed ID: 27342041
[No Abstract] [Full Text] [Related]
19. 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]
20. Chromatin acetylation, memory, and LTP are impaired in CBP+/- mice: a model for the cognitive deficit in Rubinstein-Taybi syndrome and its amelioration.
Alarcón JM; Malleret G; Touzani K; Vronskaya S; Ishii S; Kandel ER; Barco A
Neuron; 2004 Jun; 42(6):947-59. PubMed ID: 15207239
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
