Detalhe da pesquisa
1.
About 1% of the breast and ovarian Spanish families testing negative for BRCA1 and BRCA2 are carriers of RAD51D pathogenic variants.
Int J Cancer
; 134(9): 2088-97, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24130102
2.
Ionizing radiation or mitomycin-induced micronuclei in lymphocytes of BRCA1 or BRCA2 mutation carriers.
Breast Cancer Res Treat
; 127(3): 611-22, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20625817
3.
Rapid identification of female haemophilia A carriers with deletions in the factor VIII gene by quantitative real-time PCR analysis.
Thromb Haemost
; 94(3): 661-4, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16268486
4.
Molecular detection of peripheral blood breast cancer mRNA transcripts as a surrogate biomarker for circulating tumor cells.
PLoS One
; 8(9): e74079, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24058517
5.
First report of two independent point factorVIII mutations in a family with haemophilia a: a word of caution for carrier diagnosis.
Thromb Haemost
; 94(3): 675-7, 2005 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-16268489
6.
Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites.
Blood
; 111(7): 3468-78, 2008 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18184865
7.
The prothrombin 20210A allele influences clinical manifestations of hemophilia A in patients with intron 22 inversion and without inhibitors.
Haematologica
; 87(3): 279-85, 2002 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-11869940
8.
Inversion of intron 1 of the factor VIII gene for direct molecular diagnosis of hemophilia A.
Haematologica
; 88(1): 118-20, 2003 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-12551839