Publicacións (59) Publicacións nas que participase algún/ha investigador/a

2011

  1. A SNP multiplex for the simultaneous prediction of biogeographic ancestry and pigmentation type

    Forensic Science International: Genetics Supplement Series, Vol. 3, Núm. 1

  2. A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

    Neuromuscular Disorders, Vol. 21, Núm. 4, pp. 254-262

  3. A novel mutation in the OFD1 (Cxorf5) gene may contribute to oral phenotype in patients with oral-facial-digital syndrome type 1

    Oral Diseases, Vol. 17, Núm. 6, pp. 610-614

  4. A pharmacogenetics study of TPMT and ITPA genes detects a relationship with side effects and clinical response in patients with inflammatory bowel disease receiving azathioprine

    Journal of Gastrointestinal and Liver Diseases, Vol. 20, Núm. 3, pp. 247-253

  5. A study of East Timor variability using the SNPforID 52-plex SNP panel

    Forensic Science International: Genetics, Vol. 5, Núm. 1

  6. A two-phase case-control study for colorectal cancer genetic susceptibility: Candidate genes from chromosomal regions 9q22 and 3q22

    British Journal of Cancer, Vol. 105, Núm. 6, pp. 870-875

  7. Adaptive selection of an incretin gene in Eurasian populations

    Genome Research, Vol. 21, Núm. 1, pp. 21-32

  8. An update of in Silico tools for the prediction of pathogenesis in Missense variants

    Current Bioinformatics, Vol. 6, Núm. 2, pp. 185-198

  9. Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): Evidence of founder effects

    British Journal of Dermatology, Vol. 165, Núm. 4, pp. 906-911

  10. Analysis of global variability in 15 established and 5 new European Standard Set (ESS) STRs using the CEPH human genome diversity panel

    Forensic Science International: Genetics, Vol. 5, Núm. 3, pp. 155-169

  11. Association between neuroserpin and molecular markers of brain damage in patients with acute ischemic stroke

    Journal of Translational Medicine, Vol. 9

  12. Autosomal SNP typing of forensic samples with the GenPlex™ HID System: Results of a collaborative study

    Forensic Science International: Genetics, Vol. 5, Núm. 5, pp. 369-375

  13. BRCA1 mutations do not increase prostate cancer risk: Results from a meta-analysis including new data

    Prostate, Vol. 71, Núm. 16, pp. 1768-1779

  14. Birt-Hogg-Dubé syndrome in a patient with localized fibrofolliculomas and a novel mutation in the FLCN gene

    International Journal of Dermatology, Vol. 50, Núm. 8, pp. 968-971

  15. CAMT in a female with developmental delay, facial malformations and central nervous system anomalies

    Pediatric Blood and Cancer, Vol. 56, Núm. 3, pp. 452-453

  16. CDP-choline treatment increases circulating endothelial progenitor cells in acute ischemic stroke

    Neurological Research, Vol. 33, Núm. 6, pp. 572-577

  17. CYP2D6 genotyping by liquid chromatography-electrospray ionization mass spectrometry

    Analytical and Bioanalytical Chemistry, Vol. 400, Núm. 8, pp. 2361-2370

  18. Call for participation in the neurogenetics consortium within the Human Variome Project

    Neurogenetics, Vol. 12, Núm. 3, pp. 169-173

  19. Case-control study for colorectal cancer genetic susceptibility in EPICOLON: Previously identified variants and mucins

    BMC Cancer, Vol. 11

  20. Characterization of U.S. population samples using a 34plex ancestry informative SNP multiplex

    Forensic Science International: Genetics Supplement Series, Vol. 3, Núm. 1