Merla G - Search Results

1

Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.

Priolo M, Micale L, Augello B, Fusco C, Zucchetti F, Prontera P, Paduano V, Biamino E, Selicorni A, Mammì C, Laganà C, Zelante L, Merla G. Priolo M, et al. Among authors: merla g. Mol Genet Metab. 2012 Nov;107(3):627-9. doi: 10.1016/j.ymgme.2012.06.019. Epub 2012 Jul 6. Mol Genet Metab. 2012. PMID: 22840376

2

Novel biallelic variants expand the phenotype of NAA20-related syndrome.

D'Onofrio G, Cuccurullo C, Larsen SK, Severino M, D'Amico A, Brønstad K, AlOwain M, Morrison JL, Wheeler PG, Webb BD, Alfalah A, Iacomino M, Uva P, Coppola A, Merla G, Salpietro VD, Zara F, Striano P, Accogli A, Arnesen T, Bilo L. D'Onofrio G, et al. Among authors: merla g. Clin Genet. 2023 Sep;104(3):371-376. doi: 10.1111/cge.14359. Epub 2023 May 16. Clin Genet. 2023. PMID: 37191084

3

DNA Methylation in the Fields of Prenatal Diagnosis and Early Detection of Cancers.

Coppedè F, Bhaduri U, Stoccoro A, Nicolì V, Di Venere E, Merla G. Coppedè F, et al. Among authors: merla g. Int J Mol Sci. 2023 Jul 20;24(14):11715. doi: 10.3390/ijms241411715. Int J Mol Sci. 2023. PMID: 37511475 Free PMC article. Review.

4

A perspective on diet, epigenetics and complex diseases: where is the field headed next?

Coppedè F, Franzago M, Giardina E, Lo Nigro C, Matullo G, Moltrasio C, Nacmias B, Pileggi S, Sirchia SM, Stoccoro A, Storlazzi CT, Stuppia L, Tricarico R, Merla G. Coppedè F, et al. Among authors: merla g. Epigenomics. 2022 Oct;14(20):1281-1304. doi: 10.2217/epi-2022-0239. Epub 2022 Nov 3. Epigenomics. 2022. PMID: 36325816 Review.

5

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

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

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.

8

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

9

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.

10

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.

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