Publicacións (63) Publicacións nas que participase algún/ha investigador/a

2009

  1. A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism

    Human Molecular Genetics, Vol. 18, Núm. 13, pp. 2370-2377

  2. A GEP-ISFG collaborative study on the optimization of an X-STR decaplex: Data on 15 Iberian and Latin American populations

    International Journal of Legal Medicine, Vol. 123, Núm. 3, pp. 227-234

  3. A common haplotype of DRD3 affected by recent positive selection is associated with protection from schizophrenia

    Human Genetics, Vol. 124, Núm. 6, pp. 607-613

  4. A new multiplex for human identification using insertion/deletion polymorphisms

    Electrophoresis, Vol. 30, Núm. 21, pp. 3682-3690

  5. Allele frequencies of fifteen STRs in a representative sample of the Italian population

    Forensic Science International: Genetics, Vol. 3, Núm. 2

  6. Anagrelide treatment in early pregnancy in a patient with JAK2V617F-positive essential thrombocythemia: Case report and literature review

    Acta Haematologica, Vol. 122, Núm. 4, pp. 221-222

  7. Ancestry analysis in the 11-M Madrid bomb attack investigation

    PLoS ONE, Vol. 4, Núm. 8

  8. Applications of MALDI-TOF MS to largescale human mtDNA population-based studies

    Electrophoresis, Vol. 30, Núm. 21, pp. 3665-3673

  9. Association of ESR1 gene tagging SNPs with breast cancer risk

    Human Molecular Genetics, Vol. 18, Núm. 6, pp. 1131-1139

  10. Association of MUTYH and MSH6 germline mutations in colorectal cancer patients

    Familial Cancer, Vol. 8, Núm. 4, pp. 525-531

  11. BRAF mutation in solid cell nest hyperplasia associated with papillary thyroid carcinoma. A precursor lesion?

    Human Pathology, Vol. 40, Núm. 7, pp. 1029-1035

  12. Behavioral disorders in parkinson's disease. GENETIC, pharmacological and medico-legal aspects

    Revista de Neurologia, Vol. 48, Núm. SUPPL. 1

  13. Clinical picture of a patient with a novel PSEN1 mutation (L424V)

    American Journal of Alzheimer's Disease and other Dementias, Vol. 24, Núm. 1, pp. 40-45

  14. Cognitive functioning in Williams Syndrome: A study in Portuguese and Spanish patients

    European Journal of Paediatric Neurology, Vol. 13, Núm. 4, pp. 337-342

  15. Common variants conferring risk of schizophrenia

    Nature, Vol. 460, Núm. 7256, pp. 744-747

  16. Cribriform-morular variant of papillary thyroid carcinoma molecular characterization of a case with neuroendocrine differentiation and aggressive behavior

    American Journal of Clinical Pathology, Vol. 131, Núm. 1, pp. 134-142

  17. Development and validation of a next generation STR ESS-pentaplex

    Forensic Science International: Genetics Supplement Series, Vol. 2, Núm. 1, pp. 25-26

  18. 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

  19. Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: A two-stage Spanish case-control study

    Gynecologic Oncology, Vol. 112, Núm. 1, pp. 210-214

  20. Evaluation of DXS9902, DXS7132, DXS6809, DXS7133, and DXS7423 in humans and chimpanzees: Sequence variation, repeat structure, and nomenclature

    International Journal of Legal Medicine, Vol. 123, Núm. 5, pp. 403-412