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Items: 1 to 20 of 125

1.

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.

2.

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, Seemanov√° E, Wiebe G, Rasi S.

Hum Genet. 2005 Sep;117(5):485-93. Epub 2005 Jul 14.

PMID:
16021471
3.

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.

Spena S, Milani D, Rusconi D, Negri G, Colapietro P, Elcioglu N, Bedeschi F, Pilotta A, Spaccini L, Ficcadenti A, Magnani C, Scarano G, Selicorni A, Larizza L, Gervasini C.

Clin Genet. 2015 Nov;88(5):431-40. doi: 10.1111/cge.12537. Epub 2014 Dec 9.

PMID:
25388907
4.

Clinical and mutational spectrum in Korean patients with Rubinstein-Taybi syndrome: the spectrum of brain MRI abnormalities.

Lee JS, Byun CK, Kim H, Lim BC, Hwang H, Choi JE, Hwang YS, Seong MW, Park SS, Kim KJ, Chae JH.

Brain Dev. 2015 Apr;37(4):402-8. doi: 10.1016/j.braindev.2014.07.007. Epub 2014 Aug 6.

PMID:
25108505
5.

Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome.

Sharma N, Mali AM, Bapat SA.

J Biosci. 2010 Jun;35(2):187-202.

6.

High frequency of copy number imbalances in Rubinstein-Taybi patients negative to CREBBP mutational analysis.

Gervasini C, Mottadelli F, Ciccone R, Castronovo P, Milani D, Scarano G, Bedeschi MF, Belli S, Pilotta A, Selicorni A, Zuffardi O, Larizza L.

Eur J Hum Genet. 2010 Jul;18(7):768-75. doi: 10.1038/ejhg.2010.1. Epub 2010 Feb 3.

7.

Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report.

Kamenarova K, Simeonov E, Tzveova R, Dacheva D, Penkov M, Kremensky I, Perenovska P, Mitev V, Kaneva R.

Hum Pathol. 2016 Jan;47(1):144-9. doi: 10.1016/j.humpath.2015.09.004. Epub 2015 Sep 25.

PMID:
26603346
8.

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.

9.

[CREBBP gene mutation in two boys with Rubinstein-Taybi syndrome].

Zhang J, Wang C, Li M, Qiu Z.

Zhonghua Er Ke Za Zhi. 2014 Sep;52(9):673-7. Chinese.

PMID:
25476429
10.

Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.

Rusconi D, Negri G, Colapietro P, Picinelli C, Milani D, Spena S, Magnani C, Silengo MC, Sorasio L, Curtisova V, Cavaliere ML, Prontera P, Stangoni G, Ferrero GB, Biamino E, Fischetto R, Piccione M, Gasparini P, Salviati L, Selicorni A, Finelli P, Larizza L, Gervasini C.

Hum Genet. 2015 Jun;134(6):613-26. doi: 10.1007/s00439-015-1542-9. Epub 2015 Mar 25.

PMID:
25805166
11.

Letter to the Editor: A Novel Mutation in the CREBBP Gene of a Korean Girl with Rubinstein-Taybi syndrome.

Huh R, Cho SY, Kim J, Ki CS, Jin DK.

Ann Clin Lab Sci. 2015 Summer;45(4):458-61.

PMID:
26275701
12.

Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.

Yoo HJ, Kim K, Kim IH, Rho SH, Park JE, Lee KY, Kim SA, Choi BY, Kim N.

Int J Mol Sci. 2015 Mar 11;16(3):5697-713. doi: 10.3390/ijms16035697.

13.

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.

14.

A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndrome.

Lai AH, Brett MS, Chin WH, Lim EC, Ng JS, Tan EC.

Gene. 2012 May 10;499(1):182-5. doi: 10.1016/j.gene.2012.02.043. Epub 2012 Mar 9.

PMID:
22426292
15.

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene.

Negri G, Milani D, Colapietro P, Forzano F, Della Monica M, Rusconi D, Consonni L, Caffi LG, Finelli P, Scarano G, Magnani C, Selicorni A, Spena S, Larizza L, Gervasini C.

Clin Genet. 2015 Feb;87(2):148-54. doi: 10.1111/cge.12348. Epub 2014 Feb 17.

PMID:
24476420
16.

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, Seemanov√° E, Volleth M, Haaf T, Kalscheuer VM.

Hum Genet. 2006 Sep;120(2):179-86. Epub 2006 Jun 17.

PMID:
16783566
17.

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. doi: 10.1002/ajmg.a.32424.

PMID:
18792986
18.

Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome.

Lopez-Atalaya JP, Gervasini C, Mottadelli F, Spena S, Piccione M, Scarano G, Selicorni A, Barco A, Larizza L.

J Med Genet. 2012 Jan;49(1):66-74. doi: 10.1136/jmedgenet-2011-100354. Epub 2011 Oct 7.

19.

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.

20.

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

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