Publicacións nas que colabora con María José Brión Martínez (19)
2023
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Detection of the Copy Number Variants of Genes in Patients with Familial Cardiac Diseases by Massively Parallel Sequencing
Molecular Diagnosis and Therapy, Vol. 27, Núm. 1, pp. 105-113
2017
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Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection
International Journal of Legal Medicine, Vol. 131, Núm. 5, pp. 1211-1219
2015
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Genetic analysis of arrhythmogenic diseases in the era of NGS: The complexity of clinical decision-making in Brugada Syndrome
PLoS ONE, Vol. 10, Núm. 7
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Massive parallel sequencing applied to the molecular autopsy in sudden cardiac death in the young
Forensic Science International: Genetics, Vol. 18, pp. 160-170
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Resequencing and association analysis of coding regions at twenty candidate genes suggest a role for rare risk variation at AKAP9 and protective variation at NRXN1 in schizophrenia susceptibility
Journal of Psychiatric Research, Vol. 66-67, pp. 38-44
2014
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Next generation sequencing challenges in the analysis of cardiac sudden death due to arrhythmogenic disorders
Electrophoresis, Vol. 35, Núm. 21-22, pp. 3111-3116
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Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease
Clinica Chimica Acta, Vol. 437, pp. 88-92
2013
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Genetic variants in genes related to lipid metabolism and atherosclerosis, dyslipidemia and atorvastatin response
Clinica Chimica Acta, Vol. 417, pp. 8-11
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Next-Generation Sequencing Technologies
Encyclopedia of Forensic Sciences: Second Edition (Elsevier Inc.), pp. 278-281
2011
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Genetic association study of age-related macular degeneration in the Spanish population
Acta Ophthalmologica, Vol. 89, Núm. 1
2010
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New technologies in the genetic approach to sudden cardiac death in the young
Forensic Science International, Vol. 203, Núm. 1-3, pp. 15-24
2009
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Development of predictive models of proliferative vitreoretinopathy based on genetic variables: The retina 4 project
Investigative Ophthalmology and Visual Science, Vol. 50, Núm. 5, pp. 2384-2390
2005
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Hierarchical analysis of 30 Y-chromosome SNPs in European populations
International Journal of Legal Medicine, Vol. 119, Núm. 1, pp. 10-15
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SNPs in forensic genetics: A review on SNP typing methodologies
Forensic Science International, Vol. 154, Núm. 2-3, pp. 181-194
2004
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SNP genotyping with single base extension-tag microarrays
International Congress Series, Vol. 1261, Núm. C, pp. 331-333
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Selecting single nucleotide polymorphisms for forensic applications
International Congress Series, Vol. 1261, Núm. C, pp. 18-20
2003
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Genotipado de SNPS de cromosoma Y con DNA microarrays
Ciencia forense: Revista aragonesa de medicina legal, Núm. 5, pp. 369-372
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Typing Y-chromosome single nucleotide polymorphisms with DNA microarray technology
International Congress Series, Vol. 1239, Núm. C, pp. 21-25
2001
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The use of the LightCycler for the detection of Y chromosome SNPs
Forensic Science International, Vol. 118, Núm. 2-3, pp. 163-168