Marchione VD - Search Results

1

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

2

Reliable and cost-effective approach for diagnosis of heterozygous F8/F9 large deletions by quantitative real-time PCR.

Abelleyro MM, Radic CP, Tetzlaff T, Marchione V, Fundia AF, Larripa IB, Rossetti LC, De Brasi CD. Abelleyro MM, et al. Haemophilia. 2015 May;21(3):e247-e251. doi: 10.1111/hae.12656. Epub 2015 Mar 10. Haemophilia. 2015. PMID: 25753911 No abstract available.

3

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.

4

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.

5

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.

6

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.

7

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

8

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 May 6:jmg-2024-109902. doi: 10.1136/jmg-2024-109902. Online ahead of print. J Med Genet. 2024. PMID: 38719348

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

8 results

Search Page