Publicaciones en colaboración con investigadores/as de Hospital Universitario Nuestra Señora de Candelaria (19)

2024

  1. Renal diseases that course with hypomagnesemia. Comments on a new hereditary hypomagnesemic tubulopathy

    Nefrologia, Vol. 44, Núm. 1, pp. 23-31

2023

  1. Characterization of pre-mRNA Splicing Defects Caused by CLCN5 and OCRL Mutations and Identification of Novel Variants Associated with Dent Disease

    Biomedicines, Vol. 11, Núm. 11

  2. New SLC22A12 (URAT1) Variant Associated with Renal Hypouricemia Identified by Whole-Exome Sequencing Analysis and Bioinformatics Predictions

    Genes, Vol. 14, Núm. 9

  3. Pathogenic Variants of SLC22A12 (URAT1) and SLC2A9 (GLUT9) in Spanish Patients with Renal Hypouricemia: Founder Effect of SLC2A9 Variant c.374C>T; p.(T125M)

    International Journal of Molecular Sciences, Vol. 24, Núm. 9

2022

  1. Gout associated with reduced renal excretion of uric acid. Renal tubular disorder that nephrologists do not treat

    Nefrologia, Vol. 42, Núm. 3, pp. 273-279

2020

  1. Considerations about the molecular basis of some kidney tubule disorders in relation to inbreeding and population displacement

    Nefrologia, Vol. 40, Núm. 2, pp. 126-132

  2. Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

    Molecular Genetics and Genomic Medicine, Vol. 8, Núm. 11

  3. Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome

    Intractable and Rare Diseases Research, Vol. 9, Núm. 4, pp. 222-228

2019

  1. Characterization of two novel mutations in the claudin-16 and claudin-19 genes that cause familial hypomagnesemia with hypercalciuria and nephrocalcinosis

    Gene, Vol. 689, pp. 227-234

  2. Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations

    BMC Medical Genetics, Vol. 20, Núm. 1

2018

  1. Splicing analysis of exonic OCRL mutations causing lowe syndrome or dent-2 disease

    Genes, Vol. 9, Núm. 1

2016

  1. Three exonic mutations in polycystic kidney disease-2 gene (PKD2) alter splicing of its pre-mRNA in a minigene system

    Gene, Vol. 578, Núm. 1, pp. 117-123

2015

  1. Splicing defects caused by exonic mutations in PKD1 as a new mechanism of pathogenesis in autosomal dominant polycystic kidney disease

    RNA Biology, Vol. 12, Núm. 4, pp. 369-374

2014

  1. Defective pre-mRNA splicing in PKD1 due to presumed missense and synonymous mutations causing autosomal dominant polycystic disease

    Gene, Vol. 546, Núm. 2, pp. 243-249

  2. Severe manifestation of bartter syndrome type IV caused by a novel insertion mutation in the BSND gene

    Clinical Nephrology, Vol. 81, Núm. 5, pp. 363-368

2013

  1. Dent’s disease: Identification of seven new pathogenic mutations in the CLCN5 gene

    Journal of Pediatric Genetics, Vol. 2, Núm. 3, pp. 133-140

2011

  1. Dent's disease: Clinical features and molecular basis

    Pediatric Nephrology, Vol. 26, Núm. 5, pp. 693-704

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

  2. Molecular analysis of the CLCN5 gene in Dent's disease: First mutation identified in a patient from South America

    Clinical Nephrology, Vol. 68, Núm. 6, pp. 367-372