Marchione VD - Search Results

1

Detection and characterization of highly pathogenic avian influenza A (H5N1) clade 2.3.4.4b virus circulating in Argentina in 2023.

Artuso MC, Marchione VD, Benedetti E, Bonastre P, Alvarez AM, Piccini L, Ponde A, Barrios Benito E, Fabeiro M, Waisman K, Coppola L, Poklepovich T, Chamorro A, Avaro M, Riva DA, Pontoriero A, Ferrer ME, Marcos A, Dassa L, Caria D, Melon X, Balzano Parodi RE, Nicola AM. Artuso MC, et al. Among authors: marchione vd. Rev Argent Microbiol. 2024 Nov 11:S0325-7541(24)00115-9. doi: 10.1016/j.ram.2024.08.002. Online ahead of print. Rev Argent Microbiol. 2024. PMID: 39532594 Free article.

2

Molecular insights into the mechanism of nonrecurrent F8 structural variants: Full breakpoint characterization and bioinformatics of DNA elements implicated in the upmost severe phenotype in hemophilia A.

Abelleyro MM, Radic CP, Marchione VD, Waisman K, Tetzlaff T, Neme D, Rossetti LC, De Brasi CD. Abelleyro MM, et al. Among authors: marchione vd. Hum Mutat. 2020 Apr;41(4):825-836. doi: 10.1002/humu.23977. Epub 2020 Jan 16. Hum Mutat. 2020. PMID: 31898853

3

Haemophilia B, severe childhood obesity and other extra-haematological features associated with similar 4Mb-deletions on Xq27: Clinical findings, molecular insights and literature update.

Radic CP, Abelleyro MM, Ziegler B, Marchione VD, Nevado J, Lapunzina P, Sciuccati G, Neme D, Rossetti LC, Bonduel M, De Brasi CD. Radic CP, et al. Among authors: marchione vd. Haemophilia. 2023 May;29(3):844-854. doi: 10.1111/hae.14779. Epub 2023 Mar 17. Haemophilia. 2023. PMID: 36930806

4

Somatic/Germinal Mosaicism of a F8 Promoter Deletion Confounds Clinical Predictions in a Family with Haemophilia A: Key Role of Genotype Quantitation.

Abelleyro MM, Marchione VD, Elhelou L, Radic CP, Rossetti LC, Neme D, De Brasi CD. Abelleyro MM, et al. Among authors: marchione vd. Thromb Haemost. 2018 Mar;118(3):617-620. doi: 10.1055/s-0038-1623536. Epub 2018 Feb 7. Thromb Haemost. 2018. PMID: 29534251 No abstract available.

5

Comprehensive genomic filtering algorithm to expose the cause of skewed X chromosome inactivation. The proof of concept in female haemophilia expression.

Ziegler BM, Abelleyro MM, Marchione VD, Lazarte N, Ledesma MM, Elhelou L, Neme D, Rossetti LC, Medina-Acosta E, Giliberto F, De Brasi C, Radic CP. Ziegler BM, et al. Among authors: marchione vd. J Med Genet. 2024 Jul 19;61(8):769-776. doi: 10.1136/jmg-2024-109902. J Med Genet. 2024. PMID: 38719348

6

F8 intron 22 inversions and SNP rs73563631 in unrelated families with severe haemophilia A: clinical features and gene testing implications.

Abelleyro MM, Rossetti LC, Curto Mde L, Radic CP, Marchione VD, De Brasi CD. Abelleyro MM, et al. Among authors: marchione vd. Thromb Haemost. 2016 Mar;115(3):678-81. doi: 10.1160/TH15-08-0643. Epub 2015 Oct 22. Thromb Haemost. 2016. PMID: 26489971 No abstract available.

7

Inverse PCR to perform long-distance haplotyping: main applications to improve preimplantation genetic diagnosis in hemophilia.

Abelleyro MM, Marchione VD, Palmitelli M, Radic CP, Neme D, Larripa IB, Medina-Acosta E, De Brasi CD, Rossetti LC. Abelleyro MM, et al. Among authors: marchione vd. Eur J Hum Genet. 2019 Apr;27(4):603-611. doi: 10.1038/s41431-018-0334-9. Epub 2019 Jan 9. Eur J Hum Genet. 2019. PMID: 30626931 Free PMC article.

8

A prevalent CTLA4 missense variant significantly associates with inhibitor development in Argentine patients with severe haemophilia A.

Marchione VD, Zuccoli JR, Abelleyro MM, Radic CP, Neme D, Candela M, de Tezanos Pinto M, De Brasi CD, Rossetti LC. Marchione VD, et al. Haemophilia. 2017 Mar;23(2):e166-e169. doi: 10.1111/hae.13194. Epub 2017 Feb 20. Haemophilia. 2017. PMID: 28220572 No abstract available.

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