ELIECER
COTO GARCIA
Catedrático de Universidad
FERNANDO
SANTOS RODRIGUEZ
Investigador/a
Publications dans lesquelles il/elle collabore avec FERNANDO SANTOS RODRIGUEZ (20)
2021
-
Síndrome de Gitelman
Nefrología pediátrica (Ediciones de la Universidad de Oviedo), pp. 237-240
2018
-
Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations
Pediatric Nephrology, Vol. 33, Núm. 9, pp. 1523-1529
-
Salt-losing tubulopathy and chronic dermatitis
Kidney International, Vol. 94, Núm. 2, pp. 433
2017
-
A new SLC12A3 founder mutation (p.Val647Met) in Gitelman's syndrome patients of Roma ancestry
Nefrologia, Vol. 37, Núm. 4, pp. 423-428
-
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome
PLoS ONE, Vol. 12, Núm. 3
2016
-
Gitelman syndrome: a review of clinical features, genetic diagnosis and therapeutic management
Expert Opinion on Orphan Drugs, Vol. 4, Núm. 10, pp. 1005-1009
-
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
-
Primary distal renal tubular acidosis: Novel findings in patients studied by next-generation sequencing
Pediatric Research, Vol. 79, Núm. 3, pp. 496-501
2015
-
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
-
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
-
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
-
Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm
PLoS ONE, Vol. 8, Núm. 9
2011
-
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
-
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
-
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
-
Homeostasis del magnesio. Etiopatogenia, clínica y tratamiento de la hipomagnesemia. A propósito de un caso
Nefrologia, Vol. 29, Núm. 6, pp. 518-524
2008
2007
-
Distal RTA with nerve deafness: Clinical spectrum and mutational analysis in five children
Pediatric Nephrology, Vol. 22, Núm. 6, pp. 825-828
-
The Gitelman syndrome mutation, IVS9+1G>T, is common across Europe [6]
Kidney International
2004
-
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