D'Elia AV - Search Results

1

Toward a better definition of EPCAM deletions in Lynch Syndrome: Report of new variants in Italy and the associated molecular phenotype.

Cini G, Quaia M, Canzonieri V, Fornasarig M, Maestro R, Morabito A, D'Elia AV, Urso ED, Mammi I, Viel A. Cini G, et al. Among authors: d elia av. Mol Genet Genomic Med. 2019 May;7(5):e587. doi: 10.1002/mgg3.587. Epub 2019 Mar 27. Mol Genet Genomic Med. 2019. PMID: 30916491 Free PMC article.

2

Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy.

Cini G, Mezzavilla M, Della Puppa L, Cupelli E, Fornasin A, D'Elia AV, Dolcetti R, Damante G, Bertok S, Miolo G, Maestro R, de Paoli P, Amoroso A, Viel A. Cini G, et al. BMC Med Genet. 2016 Feb 6;17:11. doi: 10.1186/s12881-016-0274-6. BMC Med Genet. 2016. PMID: 26852130 Free PMC article.

3

Missense NR2F1 variant in monozygotic twins affected with the Bosch-Boonstra-Schaaf optic atrophy syndrome.

Mio C, Fogolari F, Pezzoli L, D'Elia AV, Iascone M, Damante G. Mio C, et al. Among authors: d elia av. Mol Genet Genomic Med. 2020 Jul;8(7):e1278. doi: 10.1002/mgg3.1278. Epub 2020 May 15. Mol Genet Genomic Med. 2020. PMID: 32412696 Free PMC article.

4

Frequency of factor V, prothrombin and methylenetetrahydrofolate reductase gene variants in preeclampsia.

D'Elia AV, Driul L, Giacomello R, Colaone R, Fabbro D, Di Leonardo C, Florio P, Petraglia F, Marchesoni D, Damante G. D'Elia AV, et al. Gynecol Obstet Invest. 2002;53(2):84-7. doi: 10.1159/000052998. Gynecol Obstet Invest. 2002. PMID: 11961379

5

The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases.

Mio C, Zucco J, Fabbro D, Bregant E, Baldan F, Allegri L, D'Elia AV, Collini V, Imazio M, Damante G, Faletra F. Mio C, et al. Among authors: d elia av. Clin Genet. 2024 Oct;106(4):394-402. doi: 10.1111/cge.14569. Epub 2024 Jun 4. Clin Genet. 2024. PMID: 38837338

6

Tumor necrosis factor-alpha gene polymorphism in severe and mild-moderate rheumatoid arthritis.

Fabris M, Di Poi E, D'Elia A, Damante G, Sinigaglia L, Ferraccioli G. Fabris M, et al. J Rheumatol. 2002 Jan;29(1):29-33. J Rheumatol. 2002. PMID: 11824966

7

BRCA2 germline mutations in primary cancer of the fallopian tube.

Casarsa S, Puglisi F, Baudi F, De Paola L, Venuta S, Piga A, Di Loreto C, Marchesoni D, D'Elia AV, Damante G. Casarsa S, et al. Oncol Rep. 2004 Aug;12(2):313-6. Oncol Rep. 2004. PMID: 15254695

8

Molecular analysis of a human PAX6 homeobox mutant.

D'Elia AV, Puppin C, Pellizzari L, Pianta A, Bregant E, Lonigro R, Tell G, Fogolari F, van Heyningen V, Damante G. D'Elia AV, et al. Eur J Hum Genet. 2006 Jun;14(6):744-51. doi: 10.1038/sj.ejhg.5201579. Eur J Hum Genet. 2006. PMID: 16493447

9

Conservation across species identifies several transcriptional enhancers in the HEX genomic region.

D'Elia AV, Bregant E, Passon N, Puppin C, Meneghel A, Damante G. D'Elia AV, et al. Mol Cell Biochem. 2009 Dec;332(1-2):67-75. doi: 10.1007/s11010-009-0175-5. Epub 2009 Jun 25. Mol Cell Biochem. 2009. PMID: 19554426

10

Plasminogen activator inhibitor-1 gene polymorphisms in pre-eclampsia.

D'Elia AV, Fabbro D, Driul L, Barillari G, Marchesoni D, Damante G. D'Elia AV, et al. Semin Thromb Hemost. 2011 Mar;37(2):97-105. doi: 10.1055/s-0030-1270334. Epub 2011 Mar 2. Semin Thromb Hemost. 2011. PMID: 21370208 Review.

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