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Items: 1 to 20 of 122

1.

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, et al.

Nature. 1995 Jul 27;376(6538):348-51.

PMID:
7630403
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.

3.

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 15;42(1):96-114.

PMID:
9177780
4.

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 1;92(1):47-52.

PMID:
10797422
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.

PMID:
14974086
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 7;78(3):267-70.

PMID:
9677064
7.

Loss of CBP acetyltransferase activity by PHD finger mutations in Rubinstein-Taybi syndrome.

Kalkhoven E, Roelfsema JH, Teunissen H, den Boer A, Ariyurek Y, Zantema A, Breuning MH, Hennekam RC, Peters DJ.

Hum Mol Genet. 2003 Feb 15;12(4):441-50.

PMID:
12566391
8.

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.

9.

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. No abstract available.

10.

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.

PMID:
9949198
11.

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 Fall;43(4):450-6.

PMID:
24247805
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 3;90(1):29-34.

PMID:
10602114
13.

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 1;10(10):1071-6.

PMID:
11331617
14.

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.

15.

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. Epub 2005 Feb 10.

16.

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 Oct-Nov;7(7):748-56.

17.

Rubinstein-Taybi syndrome: molecular findings and therapeutic approaches to improve cognitive dysfunction.

Hallam TM, Bourtchouladze R.

Cell Mol Life Sci. 2006 Aug;63(15):1725-35. Review.

PMID:
16786226
18.

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients.

Bentivegna A, Milani D, Gervasini C, Castronovo P, Mottadelli F, Manzini S, Colapietro P, Giordano L, Atzeri F, Divizia MT, Uzielli ML, Neri G, Bedeschi MF, Faravelli F, Selicorni A, Larizza L.

BMC Med Genet. 2006 Oct 19;7:77.

19.

[Clinical sequelae of mutation of the CBP gene].

Smardová J, Smarda J.

Cas Lek Cesk. 1999 Dec 13;138(24):739-43. Review. Czech.

PMID:
10746038
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 24;42(6):947-59.

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