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Items: 18

1.

Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report.

Olyaei Y, Sarmiento JM, Bannykh SI, Drazin D, Naruse RT, King W.

Cureus. 2017 Apr 11;9(4):e1151. doi: 10.7759/cureus.1151.

2.

Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome.

Spena S, Gervasini C, Milani D.

J Pediatr Genet. 2015 Sep;4(3):177-86. doi: 10.1055/s-0035-1564571. Epub 2015 Sep 28. Review.

3.

CREBBP is a target of epigenetic, but not genetic, modification in juvenile myelomonocytic leukemia.

Fluhr S, Boerries M, Busch H, Symeonidi A, Witte T, Lipka DB, Mücke O, Nöllke P, Krombholz CF, Niemeyer CM, Plass C, Flotho C.

Clin Epigenetics. 2016 May 5;8:50. doi: 10.1186/s13148-016-0216-3. eCollection 2016.

4.

Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

de Vries TI, Monroe GR, van Belzen MJ, van der Lans CA, Savelberg SM, Newman WG, van Haaften G, Nievelstein RA, van Haelst MM.

Eur J Hum Genet. 2016 Aug;24(9):1363-6. doi: 10.1038/ejhg.2016.14. Epub 2016 Mar 9.

5.

CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.

Wincent J, Luthman A, van Belzen M, van der Lans C, Albert J, Nordgren A, Anderlid BM.

Mol Genet Genomic Med. 2015 Sep 22;4(1):39-45. doi: 10.1002/mgg3.177. eCollection 2016 Jan. Erratum in: Mol Genet Genomic Med. 2016 May;4(3):367.

6.

Face scanning and spontaneous emotion preference in Cornelia de Lange syndrome and Rubinstein-Taybi syndrome.

Crawford H, Moss J, McCleery JP, Anderson GM, Oliver C.

J Neurodev Disord. 2015;7(1):22. doi: 10.1186/s11689-015-9119-4. Epub 2015 Jul 30.

7.

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.

8.

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management.

Milani D, Manzoni FM, Pezzani L, Ajmone P, Gervasini C, Menni F, Esposito S.

Ital J Pediatr. 2015 Jan 20;41:4. doi: 10.1186/s13052-015-0110-1. Review.

9.

Epigenetic mechanisms of Rubinstein-Taybi syndrome.

Park E, Kim Y, Ryu H, Kowall NW, Lee J, Ryu H.

Neuromolecular Med. 2014 Mar;16(1):16-24. doi: 10.1007/s12017-013-8285-3. Epub 2014 Jan 1.

10.

Rubinstein-taybi syndrome: a case report.

Münevveroglu AP, Akgöl BB.

Case Rep Dent. 2012;2012:483867. Epub 2012 Sep 6.

11.

Chromosomal 16p microdeletion in Rubinstein-Taybi syndrome detected by oligonucleotide-based array comparative genomic hybridization: a case report.

Mohd Fadley MA, Ismail A, Keong TM, Yusoff NM, Zakaria Z.

J Med Case Rep. 2012 Jan 23;6:30. doi: 10.1186/1752-1947-6-30.

12.

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.

Tsai AC, Dossett CJ, Walton CS, Cramer AE, Eng PA, Nowakowska BA, Pursley AN, Stankiewicz P, Wiszniewska J, Cheung SW.

Eur J Hum Genet. 2011 Jan;19(1):43-9. doi: 10.1038/ejhg.2010.121. Epub 2010 Aug 18.

13.

Rubinstein-Taybi syndrome (CREBBP, EP300).

van Belzen M, Bartsch O, Lacombe D, Peters DJ, Hennekam RC.

Eur J Hum Genet. 2011 Jan;19(1):preceeding 118-20. doi: 10.1038/ejhg.2010.124. Epub 2010 Jul 28. No abstract available.

14.

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.

15.

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.

16.
17.

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.

18.

CREB binding protein functions during successive stages of eye development in Drosophila.

Kumar JP, Jamal T, Doetsch A, Turner FR, Duffy JB.

Genetics. 2004 Oct;168(2):877-93.

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