Publicaciones en colaboración con investigadores/as de Hospital Universitario Nuestra Señora de Candelaria (13)

2023

  1. A second update on mapping the human genetic architecture of COVID-19

    Nature

2022

  1. RICORS2040: The need for collaborative research in chronic kidney disease

    Clinical Kidney Journal, Vol. 15, Núm. 3, pp. 372-387

2021

  1. Correction to: Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population (Orphanet Journal of Rare Diseases, (2021), 16, 1, (104), 10.1186/s13023-021-01729-0)

    Orphanet Journal of Rare Diseases

  2. Phenotypic characterization of X-linked hypophosphatemia in pediatric Spanish population

    Orphanet Journal of Rare Diseases, Vol. 16, Núm. 1

2019

  1. Risk of cardiovascular involvement in pediatric patients with X-linked hypophosphatemia

    Pediatric Nephrology, Vol. 34, Núm. 6, pp. 1077-1086

2017

  1. Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome

    PLoS ONE, Vol. 12, Núm. 3

2015

  1. Cysteamine (Cystagon®) adherence in patients with cystinosis in Spain: Successful in children and a challenge in adolescents and adults

    Nephrology Dialysis Transplantation, Vol. 30, Núm. 3, pp. 475-480

  2. Novel mutations associated with nephrogenic diabetes insipidus. A clinical-genetic study

    European Journal of Pediatrics, Vol. 174, Núm. 10, pp. 1373-1385

2013

  1. Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis

    PLoS ONE, Vol. 8, Núm. 1

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

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

  3. Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm

    PLoS ONE, Vol. 8, Núm. 9

  4. RenalTube: A network tool for clinical and genetic diagnosis of primary tubulopathies

    European Journal of Pediatrics, Vol. 172, Núm. 6, pp. 775-780

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