PubMed

Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

Bartholdi D, Roelfsema JH, Papadia F, Breuning MH, Niedrist D, Hennekam RC, Schinzel A, Peters DJ.

J Med Genet. 2007 May;44(5):327-33. Epub 2007 Jan 12.PMID: 17220215 [PubMed - indexed for MEDLINE]Related articles

Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome.

Zimmermann N, Acosta AM, Kohlhase J, Bartsch O.

Eur J Hum Genet. 2007 Aug;15(8):837-42. Epub 2007 Feb 14.PMID: 17299436 [PubMed - indexed for MEDLINE]Related articlesFree article

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.PMID: 15706485 [PubMed - indexed for MEDLINE]Related articlesFree article

Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.

Foley P, Bunyan D, Stratton J, Dillon M, Lynch SA.

Am J Med Genet A. 2009 May;149A(5):997-1000.PMID: 19353645 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2005 Jul 14.PMID: 16021471 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 17052327 [PubMed - indexed for MEDLINE]Related articlesFree article

Rubinstein-Taybi syndrome: clinical and molecular overview.

Roelfsema JH, Peters DJ.

Expert Rev Mol Med. 2007 Aug 20;9(23):1-16. Review.PMID: 17942008 [PubMed - indexed for MEDLINE]Related articles

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. Epub 2006 Jun 17.PMID: 16783566 [PubMed - indexed for MEDLINE]Related articles

High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints.

Gervasini C, Castronovo P, Bentivegna A, Mottadelli F, Faravelli F, Giovannucci-Uzielli ML, Pessagno A, Lucci-Cordisco E, Pinto AM, Salviati L, Selicorni A, Tenconi R, Neri G, Larizza L.

Genomics. 2007 Nov;90(5):567-73. Epub 2007 Sep 12.PMID: 17855048 [PubMed - indexed for MEDLINE]Related articles

Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case report.

Balci S, Ergün MA, Yüksel-Konuk EB, Bartsch O.

Turk J Pediatr. 2008 May-Jun;50(3):265-8.PMID: 18773673 [PubMed - indexed for MEDLINE]Related articles

Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome.

Chiang PW, Lee NC, Chien N, Hwu WL, Spector E, Tsai AC.

Am J Med Genet A. 2009 Jul;149A(7):1463-7.PMID: 19533794 [PubMed - indexed for MEDLINE]Related articles

Syndromic features and mild cognitive impairment in mice with genetic reduction on p300 activity: Differential contribution of p300 and CBP to Rubinstein-Taybi syndrome etiology.

Viosca J, Lopez-Atalaya JP, Olivares R, Eckner R, Barco A.

Neurobiol Dis. 2009 Oct 12. [Epub ahead of print]PMID: 19822209 [PubMed - as supplied by publisher]Related articles

Genotype-phenotype correlations in Rubinstein-Taybi syndrome.

Schorry EK, Keddache M, Lanphear N, Rubinstein JH, Srodulski S, Fletcher D, Blough-Pfau RI, Grabowski GA.

Am J Med Genet A. 2008 Oct 1;146A(19):2512-9.PMID: 18792986 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles

Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography.

Udaka T, Samejima H, Kosaki R, Kurosawa K, Okamoto N, Mizuno S, Makita Y, Numabe H, Toral JF, Takahashi T, Kosaki K.

Congenit Anom (Kyoto). 2005 Dec;45(4):125-31.PMID: 16359492 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articlesFree article

Rubinstein-Taybi syndrome and CREBBP c.201 202delTA mutation: a case presenting with varicella meningoencephalitis.

Qaksen H, Bartsch O, Okur M, Temel H, Açikgoz M, Yilmaz C.

Genet Couns. 2009;20(3):255-60.PMID: 19852432 [PubMed - indexed for MEDLINE]Related articles

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.PMID: 10699051 [PubMed - indexed for MEDLINE]Related articlesFree article

Screening for partial deletions in the CREBBP gene in Rubinstein-Taybi syndrome patients using multiplex PCR/liquid chromatography.

Udaka T, Kurosawa K, Izumi K, Yoshida S, Tsukahara M, Okamoto N, Torii C, Kosaki R, Masuno M, Hosokai N, Takahashi T, Kosaki K.

Genet Test. 2006 Winter;10(4):265-71.PMID: 17253932 [PubMed - indexed for MEDLINE]Related articles

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 [PubMed - indexed for MEDLINE]Related articles