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David J Sanz

Explore the profile of David J Sanz including associated specialties, affiliations and a list of published articles. Areas
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Articles 13
Citations 232
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11.
Sanz D, Acedo A, Infante M, Duran M, Perez-Cabornero L, Esteban-Cardenosa E, et al.
Clin Cancer Res . 2010 Mar; 16(6):1957-67. PMID: 20215541
Purpose: Most BRCA1/2 mutations are of unknown clinical relevance. An increasing amount of evidence indicates that there can be deleterious effects through the disruption of the splicing process. We have...
12.
Infante M, Duran M, Lasa A, Acedo A, de la Hoya M, Esteban-Cardenosa E, et al.
Breast Cancer Res Treat . 2009 Dec; 122(2):567-71. PMID: 19949853
The mutation spectrum of BRCA1 and BRCA2 presents a wide range of unique mutations in breast/ovarian cancer patients but recurrent mutations with founder effects have also been described. BRCA2 5344delAATA...
13.
Velasco E, Infante M, Duran M, Perez-Cabornero L, Sanz D, Esteban-Cardenosa E, et al.
Nat Protoc . 2007 Apr; 2(1):237-46. PMID: 17401359
Heteroduplex analysis (HA) has proven to be a robust tool for mutation detection. HA by capillary array electrophoresis (HA-CAE) was developed to increase throughput and allow the scanning of large...