Publicaciones en las que colabora con FERNANDO SANTOS RODRIGUEZ (20)

2021

  1. Síndrome de Gitelman

    Nefrología pediátrica (Ediciones de la Universidad de Oviedo), pp. 237-240

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. 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. 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

  3. Primary distal renal tubular acidosis: Novel findings in patients studied by next-generation sequencing

    Pediatric Research, Vol. 79, Núm. 3, pp. 496-501

2015

  1. A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients

    Gene, Vol. 561, Núm. 1, pp. 165-169

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. A CLCNKA polymorphism (rs10927887; p.Arg83Gly) previously linked to heart failure is associated with the estimated glomerular filtration rate in the RENASTUR cohort

    Gene, Vol. 527, Núm. 2, pp. 670-672

  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

2010

  1. Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: A case report

    Orphanet Journal of Rare Diseases, Vol. 5, Núm. 1

2009

  1. Clinical and analytical findings in gitelman's syndrome associated with homozygosity for the c.1925 G>A SLC12A3 mutation

    American Journal of Nephrology, Vol. 30, Núm. 3, pp. 218-221

  2. Homeostasis del magnesio. Etiopatogenia, clínica y tratamiento de la hipomagnesemia. A propósito de un caso

    Nefrologia, Vol. 29, Núm. 6, pp. 518-524

2008

  1. Heterocigosis compuesta para las mutaciones intrón 9 + 1 g > T y Leu 850pro en el gen SLC12A3 en el Síndrome de Gitelman

    Nefrologia

2007

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

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

  2. The Gitelman syndrome mutation, IVS9+1G>T, is common across Europe [6]

    Kidney International

2004

  1. A new mutation (intron 9+1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies

    Kidney International, Vol. 65, Núm. 1, pp. 25-29