Publikationen in Zusammenarbeit mit Forschern von Hospital Universitario San Cecilio (12)

2015

  1. Quantitative-fluorescent-PCR versus full karyotyping in prenatal diagnosis of common chromosome aneuploidies in southern Spain

    Clinical Chemistry and Laboratory Medicine, Vol. 53, Núm. 9, pp. 1333-1338

2014

  1. Identification of de novo mutations of Duchénnè/Becker muscular dystrophies in Southern Spain

    International Journal of Medical Sciences, Vol. 11, Núm. 10, pp. 988-993

2013

  1. Influence of CYP2D6 polymorphisms on serum levels of tamoxifen metabolites in Spanish women with breast cancer

    International Journal of Medical Sciences, Vol. 10, Núm. 7, pp. 932-937

2012

  1. Multiplex primer extension reaction and capillary electrophoresis to study the frequency of thrombophilia-related mutations in a spanish population

    Clinica Chimica Acta, Vol. 413, Núm. 15-16, pp. 1255-1258

2010

  1. Gene expression signatures in breast cancer distinguish phenotype characteristics, histologic subtypes, and tumor invasiveness

    Cancer, Vol. 116, Núm. 2, pp. 486-496

2008

  1. A family with atypical cystic fibrosis: brother and sister with heterozygosity for both G542X and R117H

    Pediatric and Developmental Pathology, Vol. 11, Núm. 3, pp. 213-219

  2. Multi-mutational analysis of fifteen common mutations of the glucose 6-phosphate dehydrogenase gene in the Mediterrranean population

    Clinica Chimica Acta, Vol. 395, Núm. 1-2, pp. 94-98

  3. Use of capillary electrophoresis for accurate determination of CAG repeats causing Huntington disease. An oligonucleotide design avoiding shadow bands

    Scandinavian Journal of Clinical and Laboratory Investigation, Vol. 68, Núm. 7, pp. 577-584

2005

  1. Frequency and clinical expression of HFE gene mutations in a Spanish population of subjects with abnormal iron metabolism

    Annals of Hematology, Vol. 84, Núm. 10, pp. 650-655

2004

  1. Multimutational analysis of eleven cystic fibrosis mutations common in the Mediterranean areas

    Clinical Chemistry, Vol. 50, Núm. 11, pp. 2155-2157

  2. Multiplex analysis of the most common mutations related to hereditary haemochromatosis: Two methods combining specific amplification with capillary electrophoresis

    European Journal of Haematology, Vol. 72, Núm. 2, pp. 121-129

2001

  1. Analysis of 31 CFTR mutations in 55 families from the south of Spain

    Early Human Development