D'Elia AV - Search Results

1

Heart transplantation in Danon disease: Long term single centre experience and review of the literature.

Di Nora C, Miani D, D'Elia AV, Poli S, Iascone M, Nucifora G, Finato N, Sponga S, Proclemer A, Livi U. Di Nora C, et al. Among authors: d elia av. Eur J Med Genet. 2020 Feb;63(2):103645. doi: 10.1016/j.ejmg.2019.04.002. Epub 2019 Apr 5. Eur J Med Genet. 2020. PMID: 30959184 Review.

2

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.

3

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

4

A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.

Zucco J, Baldan F, Allegri L, Bregant E, Passon N, Franzoni A, D'Elia AV, Faletra F, Damante G, Mio C. Zucco J, et al. Among authors: d elia av. J Hum Genet. 2024 Jun;69(6):271-282. doi: 10.1038/s10038-024-01237-6. Epub 2024 Mar 8. J Hum Genet. 2024. PMID: 38459225 Free PMC article.

5

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.

6

Missense mutations of human homeoboxes: A review.

D'Elia AV, Tell G, Paron I, Pellizzari L, Lonigro R, Damante G. D'Elia AV, et al. Hum Mutat. 2001 Nov;18(5):361-74. doi: 10.1002/humu.1207. Hum Mutat. 2001. PMID: 11668629 Review.

7

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

8

Redox effector factor-1 regulates the activity of thyroid transcription factor 1 by controlling the redox state of the N transcriptional activation domain.

Tell G, Pines A, Paron I, D'Elia A, Bisca A, Kelley MR, Manzini G, Damante G. Tell G, et al. J Biol Chem. 2002 Apr 26;277(17):14564-74. doi: 10.1074/jbc.M200582200. Epub 2002 Feb 7. J Biol Chem. 2002. PMID: 11834746 Free article.

9

Expression and localization of the homeodomain-containing protein HEX in human thyroid tumors.

D'Elia AV, Tell G, Russo D, Arturi F, Puglisi F, Manfioletti G, Gattei V, Mack DL, Cataldi P, Filetti S, Di Loreto C, Damante G. D'Elia AV, et al. J Clin Endocrinol Metab. 2002 Mar;87(3):1376-83. doi: 10.1210/jcem.87.3.8344. J Clin Endocrinol Metab. 2002. PMID: 11889211

10

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

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