Publicacions en què col·labora amb Félix Claverie Martín (7)

2008

  1. The D84E variant of the α-MSH receptor 1 gene is associated with cutaneous malignant melanoma early onset

    Journal of Dermatological Science, Vol. 52, Núm. 3, pp. 186-192

2007

  1. A missense mutation in the chloride/proton ClC-5 antiporter gene results in increased expression of an alternative mRNA form that lacks exons 10 and 11. Identification of seven new CLCN5 mutations in patients with Dent's disease

    Journal of Human Genetics, Vol. 52, Núm. 3, pp. 255-261

2006

  1. Mutation G47R in the BSND gene causes Bartter syndrome with deafness in two Spanish families

    Pediatric Nephrology, Vol. 21, Núm. 5, pp. 643-648

2005

  1. The Alu insertion in the CLCN5 gene of a patient with Dent's disease leads to exon 11 skipping

    Journal of Human Genetics, Vol. 50, Núm. 7, pp. 370-374

  2. Tumor necrosis factor-α gene expression in diabetic nephropathy: Relationship with urinary albumin excretion and effect of angiotensin-converting enzyme inhibition

    Kidney International

2004

  1. Characterization of the First VanB vancomycin-resistant Enterococcus faecium isolated in a Spanish Hospital

    Current Microbiology, Vol. 48, Núm. 3, pp. 199-203

2003

  1. De novo insertion of an Alu sequence in the coding region of the CLCN5 gene results in Dent's disease

    Human Genetics, Vol. 113, Núm. 6, pp. 480-485