Merla G - Search Results

1

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

Micale L, Augello B, Fusco C, Selicorni A, Loviglio MN, Silengo MC, Reymond A, Gumiero B, Zucchetti F, D'Addetta EV, Belligni E, Calcagnì A, Digilio MC, Dallapiccola B, Faravelli F, Forzano F, Accadia M, Bonfante A, Clementi M, Daolio C, Douzgou S, Ferrari P, Fischetto R, Garavelli L, Lapi E, Mattina T, Melis D, Patricelli MG, Priolo M, Prontera P, Renieri A, Mencarelli MA, Scarano G, della Monica M, Toschi B, Turolla L, Vancini A, Zatterale A, Gabrielli O, Zelante L, Merla G. Micale L, et al. Among authors: merla g. Orphanet J Rare Dis. 2011 Jun 9;6:38. doi: 10.1186/1750-1172-6-38. Orphanet J Rare Dis. 2011. PMID: 21658225 Free PMC article.

2

WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network.

Cairo S, Merla G, Urbinati F, Ballabio A, Reymond A. Cairo S, et al. Among authors: merla g. Hum Mol Genet. 2001 Mar 15;10(6):617-27. doi: 10.1093/hmg/10.6.617. Hum Mol Genet. 2001. PMID: 11230181

3

Identification of additional transcripts in the Williams-Beuren syndrome critical region.

Merla G, Ucla C, Guipponi M, Reymond A. Merla G, et al. Hum Genet. 2002 May;110(5):429-38. doi: 10.1007/s00439-002-0710-x. Epub 2002 Mar 28. Hum Genet. 2002. PMID: 12073013

4

An 11-bp duplication in the promoter region of the VHL gene in a patient with cerebellar hemangioblastoma and renal oncocytoma.

Muscarella LA, Barbano R, Augello B, Formica V, Micale L, Zelante L, D'Agruma L, Merla G. Muscarella LA, et al. Among authors: merla g. J Hum Genet. 2007;52(6):485-491. doi: 10.1007/s10038-007-0138-1. Epub 2007 Apr 17. J Hum Genet. 2007. PMID: 17437055

5

Side effects of genome structural changes.

Reymond A, Henrichsen CN, Harewood L, Merla G. Reymond A, et al. Among authors: merla g. Curr Opin Genet Dev. 2007 Oct;17(5):381-6. doi: 10.1016/j.gde.2007.08.009. Epub 2007 Oct 24. Curr Opin Genet Dev. 2007. PMID: 17913489 Review.

6

Williams-Beuren syndrome TRIM50 encodes an E3 ubiquitin ligase.

Micale L, Fusco C, Augello B, Napolitano LM, Dermitzakis ET, Meroni G, Merla G, Reymond A. Micale L, et al. Among authors: merla g. Eur J Hum Genet. 2008 Sep;16(9):1038-49. doi: 10.1038/ejhg.2008.68. Epub 2008 Apr 9. Eur J Hum Genet. 2008. PMID: 18398435 Free PMC article.

7

Promoter methylation correlates with reduced NDRG2 expression in advanced colon tumour.

Piepoli A, Cotugno R, Merla G, Gentile A, Augello B, Quitadamo M, Merla A, Panza A, Carella M, Maglietta R, D'Addabbo A, Ancona N, Fusilli S, Perri F, Andriulli A. Piepoli A, et al. Among authors: merla a, merla g. BMC Med Genomics. 2009 Mar 3;2:11. doi: 10.1186/1755-8794-2-11. BMC Med Genomics. 2009. PMID: 19257893 Free PMC article.

8

An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.

Ferrero GB, Howald C, Micale L, Biamino E, Augello B, Fusco C, Turturo MG, Forzano S, Reymond A, Merla G. Ferrero GB, et al. Among authors: merla g. Eur J Hum Genet. 2010 Jan;18(1):33-8. doi: 10.1038/ejhg.2009.108. Eur J Hum Genet. 2010. PMID: 19568270 Free PMC article.

9

GPR143 mutational analysis in two Italian families with X-linked ocular albinism.

Micale L, Augello B, Fusco C, Turturo MG, Granatiero M, Piemontese MR, Zelante L, Cecconi A, Merla G. Micale L, et al. Among authors: merla g. Genet Test Mol Biomarkers. 2009 Aug;13(4):527-31. doi: 10.1089/gtmb.2009.0030. Genet Test Mol Biomarkers. 2009. PMID: 19604113

10

Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis.

Micale L, Turturo MG, Fusco C, Augello B, Jurado LA, Izzi C, Digilio MC, Milani D, Lapi E, Zelante L, Merla G. Micale L, et al. Among authors: merla g. Eur J Hum Genet. 2010 Mar;18(3):317-23. doi: 10.1038/ejhg.2009.181. Epub 2009 Oct 21. Eur J Hum Genet. 2010. PMID: 19844261 Free PMC article.

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