Santos F - Search Results

1

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

Tavira B, Gómez J, Ortega F, Tranche S, Díaz-Corte C, Alvarez F, Ortiz A, Santos F, Sánchez-Niño MD, Coto E. Tavira B, et al. Among authors: santos f. Gene. 2013 Sep 25;527(2):670-2. doi: 10.1016/j.gene.2013.06.055. Epub 2013 Jul 9. Gene. 2013. PMID: 23850580

2

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

Coto E, Rodriguez J, Jeck N, Alvarez V, Stone R, Loris C, Rodriguez LM, Fischbach M, Seyberth HW, Santos F. Coto E, et al. Among authors: santos f. Kidney Int. 2004 Jan;65(1):25-9. doi: 10.1111/j.1523-1755.2004.00388.x. Kidney Int. 2004. PMID: 14675033 Free article.

3

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

Gil H, Santos F, García E, Alvarez MV, Ordóñez FA, Málaga S, Coto E. Gil H, et al. Among authors: santos f. Pediatr Nephrol. 2007 Jun;22(6):825-8. doi: 10.1007/s00467-006-0417-7. Epub 2007 Jan 11. Pediatr Nephrol. 2007. PMID: 17216496

4

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

Coto E, Arriba G, García-Castro M, Santos F, Corao AI, Díaz M, Sánchez Heras M, Basterrechea MA, Tallón S, Alvarez V. Coto E, et al. Among authors: santos f. Am J Nephrol. 2009;30(3):218-21. doi: 10.1159/000218104. Epub 2009 May 7. Am J Nephrol. 2009. PMID: 19420906

5

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

Mejia-Gaviria N, Gil-Peña H, Coto E, Pérez-Menéndez TM, Santos F. Mejia-Gaviria N, et al. Among authors: santos f. Orphanet J Rare Dis. 2010 Jan 14;5:1. doi: 10.1186/1750-1172-5-1. Orphanet J Rare Dis. 2010. PMID: 20074341 Free PMC article.

6

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

Mejía N, Santos F, Claverie-Martín F, García-Nieto V, Ariceta G, Castaño L; RenalTube group. Mejía N, et al. Among authors: santos f. Eur J Pediatr. 2013 Jun;172(6):775-80. doi: 10.1007/s00431-013-1934-6. Epub 2013 Feb 7. Eur J Pediatr. 2013. PMID: 23389821

7

Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm.

García Castaño A, Pérez de Nanclares G, Madariaga L, Aguirre M, Madrid A, Nadal I, Navarro M, Lucas E, Fijo J, Espino M, Espitaletta Z, Castaño L, Ariceta G; RenalTube Group. García Castaño A, et al. PLoS One. 2013 Sep 18;8(9):e74673. doi: 10.1371/journal.pone.0074673. eCollection 2013. PLoS One. 2013. PMID: 24058621 Free PMC article.

8

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.

Tavira B, Gómez J, Santos F, Gil H, Alvarez V, Coto E. Tavira B, et al. Among authors: santos f. J Hum Genet. 2014 Jul;59(7):376-80. doi: 10.1038/jhg.2014.37. Epub 2014 May 15. J Hum Genet. 2014. PMID: 24830959

9

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

Tavira B, Gómez J, Málaga S, Santos F, Fernández-Aracama J, Alonso B, Iglesias S, Benavides A, Hernando I, Plasencia A, Alvarez V, Coto E. Tavira B, et al. Among authors: santos f. Gene. 2015 Apr 25;561(1):165-9. doi: 10.1016/j.gene.2015.02.040. Epub 2015 Feb 17. Gene. 2015. PMID: 25701400

10

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

Gómez J, Gil-Peña H, Santos F, Coto E, Arango A, Hernandez O, Rodríguez J, Nadal I, Cantos V, Chocrón S, Vergara I, Madrid Á, Vazquez C, González LE, Blanco F. Gómez J, et al. Among authors: santos f. Pediatr Res. 2016 Mar;79(3):496-501. doi: 10.1038/pr.2015.243. Epub 2015 Nov 16. Pediatr Res. 2016. PMID: 26571219 Free article.

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