Merla G - Search Results

1

Dissecting KMT2D missense mutations in Kabuki syndrome patients.

Cocciadiferro D, Augello B, De Nittis P, Zhang J, Mandriani B, Malerba N, Squeo GM, Romano A, Piccinni B, Verri T, Micale L, Pasqualucci L, Merla G. Cocciadiferro D, et al. Among authors: merla g. Hum Mol Genet. 2018 Nov 1;27(21):3651-3668. doi: 10.1093/hmg/ddy241. Hum Mol Genet. 2018. PMID: 30107592 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

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

4

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.

5

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.

6

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.

7

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

8

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.

9

VHL frameshift mutation as target of nonsense-mediated mRNA decay in Drosophila melanogaster and human HEK293 cell line.

Micale L, Muscarella LA, Marzulli M, Augello B, Tritto P, D'Agruma L, Zelante L, Palumbo G, Merla G. Micale L, et al. Among authors: merla g. J Biomed Biotechnol. 2009;2009:860761. doi: 10.1155/2009/860761. Epub 2010 Jan 21. J Biomed Biotechnol. 2009. PMID: 20145706 Free PMC article.

10

Copy number variants at Williams-Beuren syndrome 7q11.23 region.

Merla G, Brunetti-Pierri N, Micale L, Fusco C. Merla G, et al. Hum Genet. 2010 Jul;128(1):3-26. doi: 10.1007/s00439-010-0827-2. Epub 2010 May 1. Hum Genet. 2010. PMID: 20437059 Review.

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