De Brasi CD - Search Results

1

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

2

[Molecular genetics of hemophilia A].

De Brasi CD, Slavutsky IR, Larripa IB. De Brasi CD, et al. Medicina (B Aires). 1996;56(5 Pt 1):509-17. Medicina (B Aires). 1996. PMID: 9239887 Review. Spanish.

3

Rapid detection of exon 1 NRAS gene mutations using universal heteroduplex generator technology.

Belli C, De Brasi C, Larripa I. Belli C, et al. Hum Mutat. 2003 Feb;21(2):132-7. doi: 10.1002/humu.10160. Hum Mutat. 2003. PMID: 12552560

4

Rapid genotyping of XbaI and MspI DNA polymorphisms of the human factor VIII gene: estimation of their combined heterozygosity in the Argentinean population.

De Brasi CD, Rossetti LC, Larripa IB. De Brasi CD, et al. Haematologica. 2003 Feb;88(2):232-4. Haematologica. 2003. PMID: 12604420 No abstract available.

5

Analysis of factor VIII gene intron 1 inversion in Argentinian families with severe haemophilia A and a review of the literature.

Rossetti LC, Candela M, Bianco RP, de Tezanos Pinto M, Western A, Goodeve A, Larripa IB, De Brasi CD. Rossetti LC, et al. Among authors: de brasi cd, de tezanos pinto m. Blood Coagul Fibrinolysis. 2004 Oct;15(7):569-72. doi: 10.1097/00001721-200410000-00006. Blood Coagul Fibrinolysis. 2004. PMID: 15389123

6

Homeologous recombination between AluSx-sequences as a cause of hemophilia.

Rossetti LC, Goodeve A, Larripa IB, De Brasi CD. Rossetti LC, et al. Among authors: de brasi cd. Hum Mutat. 2004 Nov;24(5):440. doi: 10.1002/humu.9288. Hum Mutat. 2004. PMID: 15459970

7

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

8

Sixteen novel hemophilia A causative mutations in the first Argentinian series of severe molecular defects.

Rossetti LC, Radic CP, Candela M, Pérez Bianco R, de Tezanos Pinto M, Goodeve A, Larripa IB, De Brasi CD. Rossetti LC, et al. Among authors: de brasi cd, de tezanos pinto m. Haematologica. 2007 Jun;92(6):842-5. doi: 10.3324/haematol.11112. Haematologica. 2007. PMID: 17550859 Free article.

9

Developing a new generation of tests for genotyping hemophilia-causative rearrangements involving int22h and int1h hotspots in the factor VIII gene.

Rossetti LC, Radic CP, Larripa IB, De Brasi CD. Rossetti LC, et al. Among authors: de brasi cd. J Thromb Haemost. 2008 May;6(5):830-6. doi: 10.1111/j.1538-7836.2008.02926.x. Epub 2008 Feb 12. J Thromb Haemost. 2008. PMID: 18284600 Free article.

10

Inverse shifting PCR based prenatal diagnosis of hemophilia-causative inversions involving int22h and int1h hotspots from chorionic villus samples.

Radic CP, Rossetti LC, Zuccoli JR, Abelleyro MM, Larripa IB, De Brasi CD. Radic CP, et al. Among authors: de brasi cd. Prenat Diagn. 2009 Dec;29(12):1183-5. doi: 10.1002/pd.2393. Prenat Diagn. 2009. PMID: 19842127 No abstract available.

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