Publicacións (80) Publicacións nas que participase algún/ha investigador/a

2013

  1. A Generalized Model to Estimate the Statistical Power in Mitochondrial Disease Studies Involving 2×k Tables

    PLoS ONE, Vol. 8, Núm. 9

  2. A Xq21.31 duplication without features of Prader-Willi syndrome

    Endocrine

  3. A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12

    BMC Genomics, Vol. 14, Núm. 1

  4. A genetic case-control study confirms the implication of SMAD7 and TNF locus in the development of proliferative vitreoretinopathy

    Investigative Ophthalmology and Visual Science, Vol. 54, Núm. 3, pp. 1665-1678

  5. A new seipin-associated neurodegenerative syndrome

    Journal of Medical Genetics, Vol. 50, Núm. 6, pp. 401-409

  6. A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis

    Kidney International, Vol. 83, Núm. 1, pp. 153-159

  7. An overview of STRUCTURE: Applications, parameter settings, and supporting software

    Frontiers in Genetics, Vol. 4, Núm. MAY

  8. Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases

    PLoS ONE, Vol. 8, Núm. 7

  9. Ancestry analysis reveals a predominant Native American component with moderate European admixture in Bolivians

    Forensic Science International: Genetics, Vol. 7, Núm. 5, pp. 537-542

  10. Annular elastolytic giant cell granuloma associated to late-onset X-linked dominant protoporphyria

    Dermatology, Vol. 227, Núm. 3, pp. 238-242

  11. Anti-tumor efficacy of chitosan-g-poly(ethylene glycol) nanocapsules containing docetaxel: Anti-TMEFF-2 functionalized nanocapsules vs. non-functionalized nanocapsules

    European Journal of Pharmaceutics and Biopharmaceutics, Vol. 83, Núm. 3, pp. 330-337

  12. Association of thromboxane A1 synthase (TBXAS1) gene polymorphism with acute urticaria induced by nonsteroidal anti-inflammatory drugs

    Journal of Allergy and Clinical Immunology, Vol. 132, Núm. 4, pp. 989-991

  13. Autosomal recessive congenital ichthyosis

    Actas Dermo-Sifiliograficas

  14. BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern european populations

    Carcinogenesis, Vol. 34, Núm. 2, pp. 314-318

  15. BMPR1A mutations in early-onset colorectal cancer with mismatch repair proficiency

    Clinical Genetics

  16. Breast cancer genes: Beyond BRCA1 and BRCA2

    Frontiers in Bioscience, Vol. 18, Núm. 4, pp. 1358-1372

  17. CHEK2 c.1100delC mutation among non-BRCA1/2 Spanish hereditary breast cancer families

    Clinical and Translational Oncology

  18. Casework application of a stand-alone pentaplex assay of extended-ESS STRs

    Legal Medicine, Vol. 15, Núm. 4, pp. 217-221

  19. Conferencia Inaugural. Perspectivas actuales de la toxicogenómica

    Revista de toxicología, Vol. 30, Núm. 1, pp. 22

  20. Corrigendum

    Carcinogenesis