Publicacións (61) Publicacións nas que participase algún/ha investigador/a

2012

  1. 'Costa da Morte' ataxia is spinocerebellar ataxia 36: Clinical and genetic characterization

    Brain, Vol. 135, Núm. 5, pp. 1423-1435

  2. A method for the analysis of 32 X chromosome insertion deletion polymorphisms in a single PCR

    International Journal of Legal Medicine, Vol. 126, Núm. 1, pp. 97-105

  3. A missense mutation in PKD1 attenuates the severity of renal disease

    Kidney International, Vol. 81, Núm. 4, pp. 412-417

  4. A new SNP assay for identification of highly degraded human DNA

    Forensic Science International: Genetics, Vol. 6, Núm. 3, pp. 341-349

  5. Activity of β2-adrenergic receptor in oral squamous cell carcinoma is mediated by overexpression of the ADRBK2 gene: A pilot study

    Biotechnic and Histochemistry, Vol. 87, Núm. 3, pp. 179-186

  6. Actualización en la base genética de las distonías

    Revista española de trastornos del movimiento, Vol. 4, Núm. 4, pp. 22-32

  7. Analysis of a claimed distant relationship in a deficient pedigree using high density SNP data

    Forensic Science International: Genetics, Vol. 6, Núm. 3, pp. 350-353

  8. Analysis of the SNPforID 52-plex markers in four native American populations from Venezuela

    Forensic Science International: Genetics, Vol. 6, Núm. 5

  9. Association of a XRCC3 polymorphism and rectum mean dose with the risk of acute radio-induced gastrointestinal toxicity in prostate cancer patients

    Radiotherapy and Oncology, Vol. 105, Núm. 3, pp. 321-328

  10. Axonal neuropathy, long limbs and bumpy tongue: Think of MEN2B

    Muscle and Nerve, Vol. 46, Núm. 6, pp. 961-964

  11. BCL10 expression is unrelated to clinico-pathological parameters or prognoses for oral squamous cell carcinomas

    Biotechnic and Histochemistry, Vol. 87, Núm. 6, pp. 423-427

  12. Breast feeding, parity and breast cancer subtypes in a Spanish cohort

    PLoS ONE, Vol. 7, Núm. 7

  13. COGENT (COlorectal cancer GENeTics) revisited

    Mutagenesis, Vol. 27, Núm. 2, pp. 143-151

  14. Characterization of BRCA1 and BRCA2 splicing variants: A collaborative report by ENIGMA consortium members

    Breast Cancer Research and Treatment, Vol. 132, Núm. 3, pp. 1009-1023

  15. Characterization of TGM1 c.984+1G>A mutation identified in a homozygous carrier of lamellar ichthyosis

    International Journal of Dermatology, Vol. 51, Núm. 4, pp. 427-430

  16. Characterization of single nucleotide polymorphisms of cytochrome P450 in an Australian deceased sample

    Current Drug Metabolism, Vol. 13, Núm. 5, pp. 679-692

  17. Cognitive functioning in children and adults with Smith-Magenis syndrome

    European Journal of Medical Genetics, Vol. 55, Núm. 6-7, pp. 394-399

  18. Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer

    Gut, Vol. 61, Núm. 6, pp. 865-872

  19. Comparison of the Cytobrush ®, dermatological curette and oral CDx ® brush test as methods for obtaining samples of RNA for molecular analysis of oral cytology

    Cytopathology, Vol. 23, Núm. 3, pp. 192-197

  20. Current trends in miRNAs and their relationship with oral squamous cell carcinoma

    Journal of Oral Pathology and Medicine, Vol. 41, Núm. 6, pp. 433-443