Publications by the researcher in collaboration with HELENA GIL PEÑA (18)

2023

  1. Transcriptomic clustering of critically ill COVID-19 patients

    The European respiratory journal, Vol. 61, Núm. 1

2022

  1. Effects of IFIH1 rs1990760 variants on systemic inflammation and outcome in critically ill COVID-19 patients in an observational translational study

    eLife, Vol. 11

  2. IGHG3 hinge length variation was associated with the risk of critical disease and death in a Spanish COVID-19 cohort

    Genes and Immunity, Vol. 23, Núm. 6, pp. 205-208

2021

  1. The Interferon-induced transmembrane protein 3 gene (IFITM3) rs12252 C variant is associated with COVID-19

    Cytokine, Vol. 137

  2. Variant-genetic and transcript-expression analysis showed a role for the chemokine-receptor CCR5 in COVID-19 severity

    International Immunopharmacology, Vol. 98

2018

  1. Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations

    Pediatric Nephrology, Vol. 33, Núm. 9, pp. 1523-1529

  2. Genetic Variation in the H19-IGF2 Cluster Might Confer Risk of Developing Impaired Renal Function

    DNA and Cell Biology, Vol. 37, Núm. 7, pp. 617-625

  3. Salt-losing tubulopathy and chronic dermatitis

    Kidney International, Vol. 94, Núm. 2, pp. 433

2017

  1. A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry

    Nefrologia, Vol. 37, Núm. 4, pp. 423-428

  2. Differential methylation of lncRNA KCNQ1OT1 promoter polymorphism was associated with symptomatic cardiac long QT

    Epigenomics, Vol. 9, Núm. 8, pp. 1049-1057

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

    PLoS ONE, Vol. 12, Núm. 3

2016

  1. Gitelman syndrome: a review of clinical features, genetic diagnosis and therapeutic management

    Expert Opinion on Orphan Drugs, Vol. 4, Núm. 10, pp. 1005-1009

  2. KCNQ1 gene variants in the risk for type 2 diabetes and impaired renal function in the Spanish Renastur cohort

    Molecular and Cellular Endocrinology, Vol. 427, pp. 86-91

2014

  1. A labor- and cost-effective non-optical semiconductor (Ion Torrent) next-generation sequencing of the SLC12A3 and CLCNKA/B genes in Gitelman's syndrome patients

    Journal of Human Genetics, Vol. 59, Núm. 7, pp. 376-380

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

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

    PLoS ONE, Vol. 8, Núm. 9

2011

  1. Gitelman syndrome in Gypsy paediatric patients carrying the same intron 9 + 1 G>T mutation. Clinical features and impact on quality of life

    Nephrology Dialysis Transplantation, Vol. 26, Núm. 1, pp. 151-155

2007

  1. Distal RTA with nerve deafness: Clinical spectrum and mutational analysis in five children

    Pediatric Nephrology, Vol. 22, Núm. 6, pp. 825-828