Tizzano EF - Search Results

1

Marker and real-time quantitative analyses to confirm hemophilia B carrier diagnosis of a complete deletion of the F9 gene.

Venceslá A, Barceló MJ, Baena M, Quintana M, Baiget M, Tizzano EF. Venceslá A, et al. Among authors: tizzano ef. Haematologica. 2007 Nov;92(11):1583-4. doi: 10.3324/haematol.10693. Haematologica. 2007. PMID: 18024414 Free article.

2

Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 gene.

Cuscó I, Barceló MJ, Baiget M, Tizzano EF. Cuscó I, et al. Among authors: tizzano ef. Hum Mutat. 2002 Dec;20(6):452-9. doi: 10.1002/humu.10144. Hum Mutat. 2002. PMID: 12442269

3

Inversion of intron 1 of the factor VIII gene for direct molecular diagnosis of hemophilia A.

Tizzano EF, Cornet M, Baiget M. Tizzano EF, et al. Haematologica. 2003 Jan;88(1):118-20. Haematologica. 2003. PMID: 12551839 No abstract available.

4

Rapid identification of female haemophilia A carriers with deletions in the factor VIII gene by quantitative real-time PCR analysis.

Tizzano EF, Barceló MJ, Baena M, Cornet M, Venceslá A, Mateo J, Fontcuberta J, Baiget M. Tizzano EF, et al. Thromb Haemost. 2005 Sep;94(3):661-4. doi: 10.1160/TH05-03-0144. Thromb Haemost. 2005. PMID: 16268486

5

Utility of a (GT) dinucleotide repeat in intron 1 of the factor 8 gene for haemophilia A carrier diagnosis.

Tizzano E, Venceslá A, Cornet M, Baena M, Baiget M. Tizzano E, et al. Haemophilia. 2005 Mar;11(2):142-4. doi: 10.1111/j.1365-2516.2005.01071.x. Haemophilia. 2005. PMID: 15810916

6

Application of intron 9 and intron 25 dinucleotide repeats of the factor VIII gene for carrier diagnosis in haemophilia A.

Venceslá A, Baena M, Fares Taie L, Cornet M, Baiget M, Tizzano EF. Venceslá A, et al. Among authors: tizzano ef. Haemophilia. 2008 May;14(3):489-93. doi: 10.1111/j.1365-2516.2008.01698.x. Epub 2008 Apr 1. Haemophilia. 2008. PMID: 18384354

7

Severe haemophilia A in a female resulting from an inherited gross deletion and a de novo codon deletion in the F8 gene.

Venceslá A, Fuentes-Prior P, Baena M, Quintana M, Baiget M, Tizzano EF. Venceslá A, et al. Among authors: tizzano ef. Haemophilia. 2008 Sep;14(5):1094-8. doi: 10.1111/j.1365-2516.2008.01816.x. Epub 2008 Jul 25. Haemophilia. 2008. PMID: 18665854 Review.

8

The prothrombin 20210A allele influences clinical manifestations of hemophilia A in patients with intron 22 inversion and without inhibitors.

Tizzano EF, Soria JM, Coll I, Guzmán B, Cornet M, Altisent C, Martorell M, Domenech M, del Río E, Fontcuberta J, Baiget M. Tizzano EF, et al. Haematologica. 2002 Mar;87(3):279-85. Haematologica. 2002. PMID: 11869940

9

First report of two independent point factorVIII mutations in a family with haemophilia a: a word of caution for carrier diagnosis.

Tizzano EF, Venceslá A, Baena M, Cornet M, Calvo MT, Lucía JF, Pérez Garrido R, Núñez R, Baiget M. Tizzano EF, et al. Thromb Haemost. 2005 Sep;94(3):675-7. doi: 10.1160/TH05-03-0675. Thromb Haemost. 2005. PMID: 16268489 No abstract available.

10

Two independent mutations of the SMN1 gene in the same spinal muscular atrophy family branch: lessons for carrier diagnosis.

Barceló MJ, Alias L, Caselles L, Robles Y, Baiget M, Tizzano EF. Barceló MJ, et al. Among authors: tizzano ef. Genet Med. 2006 Apr;8(4):259-62. doi: 10.1097/01.gim.0000214319.99550.10. Genet Med. 2006. PMID: 16617248 Free article.

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