De Brasi CD - Search Results

1

Assessment of interleukin-10 promoter variant (-1082A/G) and cytokine production in patients with hemolytic uremic syndrome.

Mongelos MA, Sosa FN, Pineda GE, Fiorentino G, Santiago A, Abelleyro MM, Rossetti LC, Exeni R, De Brasi CD, Palermo MS, Ramos MV. Mongelos MA, et al. Among authors: de brasi cd. Front Pediatr. 2023 Jun 23;11:1210158. doi: 10.3389/fped.2023.1210158. eCollection 2023. Front Pediatr. 2023. PMID: 37425258 Free PMC 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: de brasi cd. Hum Mutat. 2020 Apr;41(4):825-836. doi: 10.1002/humu.23977. Epub 2020 Jan 16. Hum Mutat. 2020. PMID: 31898853

3

Eighteen years of molecular genotyping the hemophilia inversion hotspot: from southern blot to inverse shifting-PCR.

Rossetti LC, Radic CP, Abelleyro MM, Larripa IB, De Brasi CD. Rossetti LC, et al. Among authors: de brasi cd. Int J Mol Sci. 2011;12(10):7271-85. doi: 10.3390/ijms12107271. Epub 2011 Oct 24. Int J Mol Sci. 2011. PMID: 22072947 Free PMC article. Review.

4

Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B.

Radic CP, Rossetti LC, Abelleyro MM, Candela M, Pérez Bianco R, de Tezanos Pinto M, Larripa IB, Goodeve A, De Brasi C. Radic CP, et al. Thromb Haemost. 2013 Jan;109(1):24-33. doi: 10.1160/TH12-05-0302. Epub 2012 Oct 23. Thromb Haemost. 2013. PMID: 23093250 Free PMC article.

5

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: de brasi cd. 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.

6

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. Among authors: de brasi cd. Haemophilia. 2017 Mar;23(2):e166-e169. doi: 10.1111/hae.13194. Epub 2017 Feb 20. Haemophilia. 2017. PMID: 28220572 No abstract available.

7

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: de brasi cd. 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.

8

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: de brasi cd. 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.

9

Genotyping the hemophilia inversion hotspot by use of inverse PCR.

Rossetti LC, Radic CP, Larripa IB, De Brasi CD. Rossetti LC, et al. Among authors: de brasi cd. Clin Chem. 2005 Jul;51(7):1154-8. doi: 10.1373/clinchem.2004.046490. Epub 2005 Apr 28. Clin Chem. 2005. PMID: 15860568

10

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. Among authors: de brasi cd. Haemophilia. 2015 May;21(3):e247-e251. doi: 10.1111/hae.12656. Epub 2015 Mar 10. Haemophilia. 2015. PMID: 25753911 No abstract available.

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