Medicina Xenómica
GMX - USC
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Centro de Investigación Príncipe Felipe
Valencia, EspañaPublicacións en colaboración con investigadores/as de Centro de Investigación Príncipe Felipe (12)
2023
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A crowdsourcing database for the copy-number variation of the Spanish population
Human Genomics, Vol. 17, Núm. 1
2021
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CSVS, a crowdsourcing database of the Spanish population genetic variability
Nucleic acids research, Vol. 49, Núm. D1, pp. D1130-D1137
2017
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Association analysis identifies 65 new breast cancer risk loci
Nature, Vol. 551, Núm. 7678, pp. 92-94
2016
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Progress in pharmacogenetics: Consortiums and new strategies
Drug Metabolism and Personalized Therapy, Vol. 31, Núm. 1, pp. 17-23
2014
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Replication of previous genome-wide association studies of psychiatric diseases in a large schizophrenia case-control sample from Spain
Schizophrenia Research, Vol. 159, Núm. 1, pp. 107-113
2013
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Novel genes detected by transcriptional profiling from whole-blood cells in patients with early onset of acute coronary syndrome
Clinica Chimica Acta, Vol. 421, pp. 184-190
2007
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Association study of 69 genes in the ret pathway identifies low-penetrance loci in sporadic medullary thyroid carcinoma
Cancer Research, Vol. 67, Núm. 19, pp. 9561-9567
2006
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ERCC4 associated with breast cancer risk: A two-stage case-control study using high-throughput genotyping
Cancer Research, Vol. 66, Núm. 19, pp. 9420-9427
2003
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A Novel Loss-of-Function Mutation (N48K) in the PTEN Gene in a Spanish Patient with Cowden Disease
Journal of Investigative Dermatology, Vol. 121, Núm. 6, pp. 1356-1359
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Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: A high proportion of mutations unique to Spain and evidence of founder effects
Human Mutation, Vol. 22, Núm. 4, pp. 301-312
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Mutational analysis of BRCA1 and BRCA2 in Mediterranean Spanish women with early-onset breast cancer: identification of three novel pathogenic mutations.
Human mutation, Vol. 22, Núm. 5, pp. 417-418
2002
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Analysis of BRCA1 and BRCA2 in breast and breast/ovarian cancer families shows population substructure in the Iberian peninsula
Annals of Human Genetics, Vol. 66, Núm. 1, pp. 29-36