D'Elia G - Search Results

1

Telomere shortening and telomere position effect in mild ring 17 syndrome.

Surace C, Berardinelli F, Masotti A, Roberti MC, Da Sacco L, D'Elia G, Sirleto P, Digilio MC, Cusmai R, Grotta S, Petrocchi S, Hachem ME, Pisaneschi E, Ciocca L, Russo S, Lepri FR, Sgura A, Angioni A. Surace C, et al. Epigenetics Chromatin. 2014 Jan 7;7(1):1. doi: 10.1186/1756-8935-7-1. Epigenetics Chromatin. 2014. PMID: 24393457 Free PMC article.

2

Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location.

Surace C, Piazzolla S, Sirleto P, Digilio MC, Roberti MC, Lombardo A, D'Elia G, Tomaiuolo AC, Petrocchi S, Capolino R, El Hachem M, Claps Sepulveda D, Sgura A, Angioni A. Surace C, et al. Clin Genet. 2009 Sep;76(3):256-62. doi: 10.1111/j.1399-0004.2009.01203.x. Clin Genet. 2009. PMID: 19793054

3

Complex chromosome rearrangements related 15q14 microdeletion plays a relevant role in phenotype expression and delineates a novel recurrent syndrome.

Roberti MC, Surace C, Digilio MC, D'Elia G, Sirleto P, Capolino R, Lombardo A, Tomaiuolo AC, Petrocchi S, Angioni A. Roberti MC, et al. Orphanet J Rare Dis. 2011 Apr 19;6:17. doi: 10.1186/1750-1172-6-17. Orphanet J Rare Dis. 2011. PMID: 21504564 Free PMC article.

4

Two novel cases of trilateral retinoblastoma: genetics and review of the literature.

D'Elia G, Grotta S, Del Bufalo F, De Ioris MA, Surace C, Sirleto P, Romanzo A, Cozza R, Locatelli F, Angioni A. D'Elia G, et al. Cancer Genet. 2013 Nov;206(11):398-401. doi: 10.1016/j.cancergen.2013.11.001. Epub 2013 Nov 19. Cancer Genet. 2013. PMID: 24412019 Review.

5

Hypoplastic left heart syndrome and 21q22.3 deletion.

Ciocca L, Digilio MC, Lombardo A, D'Elia G, Baban A, Capolino R, Petrocchi S, Russo S, Sirleto P, Roberti MC, Marino B, Angioni A, Dallapiccola B. Ciocca L, et al. Am J Med Genet A. 2015 Mar;167A(3):579-86. doi: 10.1002/ajmg.a.36914. Epub 2015 Feb 7. Am J Med Genet A. 2015. PMID: 25663264 Review.

6

Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma.

Grotta S, D'Elia G, Scavelli R, Genovese S, Surace C, Sirleto P, Cozza R, Romanzo A, De Ioris MA, Valente P, Tomaiuolo AC, Lepri FR, Franchin T, Ciocca L, Russo S, Locatelli F, Angioni A. Grotta S, et al. BMC Cancer. 2015 Nov 4;15:841. doi: 10.1186/s12885-015-1854-0. BMC Cancer. 2015. PMID: 26530098 Free PMC article.

7

Oncogenic role of miR-483-3p at the IGF2/483 locus.

Veronese A, Lupini L, Consiglio J, Visone R, Ferracin M, Fornari F, Zanesi N, Alder H, D'Elia G, Gramantieri L, Bolondi L, Lanza G, Querzoli P, Angioni A, Croce CM, Negrini M. Veronese A, et al. Cancer Res. 2010 Apr 15;70(8):3140-9. doi: 10.1158/0008-5472.CAN-09-4456. Epub 2010 Apr 13. Cancer Res. 2010. PMID: 20388800 Free PMC article.

8

A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observations.

Pascolini G, Agolini E, Fleischer N, Gulotta E, Cesario C, D'Elia G, Novelli A, Majore S, Grammatico P. Pascolini G, et al. Am J Med Genet A. 2020 Jul;182(7):1791-1795. doi: 10.1002/ajmg.a.61605. Epub 2020 May 2. Am J Med Genet A. 2020. PMID: 32359026

9

Different Mechanisms Cause Hypomethylation of Both H19 and KCNQ1OT1 Imprinted Differentially Methylated Regions in Two Cases of Silver-Russell Syndrome Spectrum.

Passaretti F, Pignata L, Vitiello G, Alesi V, D'Elia G, Cecere F, Acquaviva F, De Brasi D, Novelli A, Riccio A, Iolascon A, Cerrato F. Passaretti F, et al. Genes (Basel). 2022 Oct 16;13(10):1875. doi: 10.3390/genes13101875. Genes (Basel). 2022. PMID: 36292759 Free PMC article.

10

Performance Metrics of the Scoring System for the Diagnosis of the Beckwith-Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development.

Luca M, Carli D, Cardaropoli S, Milani D, Cocchi G, Leoni C, Macchiaiolo M, Bartuli A, Tarani L, Melis D, Bontempo P, D'Elia G, Prada E, Vitale R, Grammegna A, Tannorella P, Sparago A, Pignata L, Riccio A, Russo S, Ferrero GB, Mussa A. Luca M, et al. Cancers (Basel). 2023 Jan 26;15(3):773. doi: 10.3390/cancers15030773. Cancers (Basel). 2023. PMID: 36765732 Free PMC article.

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