JOSÉ ANTONIO
GÓMEZ CAPILLA
Researcher in the period 2015-2016
CAROLINA
GÓMEZ LLORENTE
PROFESORA TITULAR DE UNIVERSIDAD
Publications by the researcher in collaboration with CAROLINA GÓMEZ LLORENTE (12)
2015
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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
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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
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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
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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
2008
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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
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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
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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
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Bases bioquímicas de la regulación metabólica
Tratado de nutrición (Acción médica), pp. 53-79
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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
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Multimutational analysis of eleven cystic fibrosis mutations common in the Mediterranean areas
Clinical Chemistry, Vol. 50, Núm. 11, pp. 2155-2157
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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
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Analysis of 31 CFTR mutations in 55 families from the south of Spain
Early Human Development