Publicacións (42) Publicacións nas que participase algún/ha investigador/a

2007

  1. A critical developmental switch defines the kinetics of kidney cyst formation after loss of Pkd1

    Nature Medicine, Vol. 13, Núm. 12, pp. 1490-1495

  2. A simple and robust quantitative PCR assay to determine CYP21A2 gene dose in the diagnosis of 21-hydroxylase deficiency

    Clinical Chemistry, Vol. 53, Núm. 9, pp. 1577-1584

  3. Analysis of 10 X-STRs in three African populations

    Forensic Science International: Genetics, Vol. 1, Núm. 2, pp. 208-211

  4. Aplicación de la proteómica a las enfermedades neurológicas

    Neurologia, Vol. 22, Núm. 3, pp. 170-179

  5. Association of the ARLTS1 Cys148Arg variant with sporadic and familial colorectal cancer

    Carcinogenesis, Vol. 28, Núm. 8, pp. 1687-1691

  6. 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

  7. Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)

    International Journal of Dermatology, Vol. 46, Núm. 1, pp. 61-63

  8. Classification of missense variants of unknown significance in BRCA1 based on clinical and tumor information

    Human Mutation, Vol. 28, Núm. 5, pp. 477-485

  9. Clinical and molecular characterization of Wilson disease in Spanish patients

    Hepatology Research, Vol. 37, Núm. 1, pp. 18-26

  10. Coding region mitochondrial DNA SNPs: Targeting East Asian and Native American haplogroups

    Forensic Science International: Genetics, Vol. 1, Núm. 1, pp. 44-55

  11. Complement Factor H**This work was supported by the Fondo de Investigaciones Sanitarias de España Network (grant no. C03-13 received from the Spanish government).

    Ophthalmology

  12. DNA Commission of the International Society for Forensic Genetics (ISFG): Recommendations regarding the role of forensic genetics for disaster victim identification (DVI)

    Forensic Science International: Genetics, Vol. 1, Núm. 1, pp. 3-12

  13. Document sobre proves genètiques de filiació

    Revista de bioética y derecho: publicación del Máster en bioética y derecho, Núm. 9

  14. Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

    Journal of Clinical Endocrinology and Metabolism, Vol. 92, Núm. 6, pp. 2370-2373

  15. Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease

    Molecular Genetics and Metabolism, Vol. 92, Núm. 1-2, pp. 160-167

  16. Evaluation of the Genplex SNP typing system and a 49plex forensic marker panel

    Forensic Science International: Genetics, Vol. 1, Núm. 2, pp. 180-185

  17. Extensive linkage disequilibrium mapping at HTR2A and DRD3 for schizophrenia susceptibility genes in the Galician population

    Schizophrenia Research, Vol. 90, Núm. 1-3, pp. 123-129

  18. FSI:Genetics-A new journal dedicated to the scientific advancement of forensic genetics

    Forensic Science International: Genetics

  19. Finding genes that underlie physical traits of forensic interest using genetic tools

    Forensic Science International: Genetics, Vol. 1, Núm. 2, pp. 100-104

  20. Forensic validation of the SNPforID 52-plex assay

    Forensic Science International: Genetics, Vol. 1, Núm. 2, pp. 186-190