Detalhe da pesquisa
1.
Safety and efficacy of sucroferric oxyhydroxide in pediatric patients with chronic kidney disease.
Pediatr Nephrol
; 36(5): 1233-1244, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33106892
2.
Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.
Kidney Int
; 85(4): 880-7, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24257694
3.
Strict blood-pressure control and progression of renal failure in children.
N Engl J Med
; 361(17): 1639-50, 2009 Oct 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-19846849
4.
Loop disorders: insights derived from defined genotypes.
Nephron Physiol
; 118(1): p7-14, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21071987
5.
Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome.
Nephrol Dial Transplant
; 23(10): 3120-5, 2008 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-18469313
6.
Influence of gain of function epithelial chloride channel ClC-Kb mutation on hearing thresholds.
Hear Res
; 214(1-2): 68-75, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16549283
7.
CNDP1 genotype and renal survival in pediatric nephropathies.
J Pediatr Endocrinol Metab
; 29(7): 827-33, 2016 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27278783
8.
Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies.
Am J Med
; 112(3): 183-90, 2002 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-11893344
9.
Salt wasting and deafness resulting from mutations in two chloride channels.
N Engl J Med
; 350(13): 1314-9, 2004 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-15044642
10.
Can renal tubular hypokalemic disorders be accurately diagnosed on the basis of the diuretic response to thiazide?
Nat Clin Pract Nephrol
; 3(10): 528-9, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17700553
11.
Deletion of exons 2-4 in the BSND gene causes severe antenatal Bartter syndrome.
Pediatr Nephrol
; 24(4): 841-4, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18843510
12.
Reduced systolic myocardial function in children with chronic renal insufficiency.
J Am Soc Nephrol
; 18(2): 593-8, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17215443
13.
A Spanish founder mutation in the chloride channel gene, CLCNKB, as a cause of atypical Bartter syndrome in adult age.
Horm Res
; 65(2): 62-8, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16391491
14.
Late-onset manifestation of antenatal Bartter syndrome as a result of residual function of the mutated renal Na+-K+-2Cl- co-transporter.
J Am Soc Nephrol
; 17(8): 2136-42, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16807401
15.
pH dependence of extracellular calcium sensing receptor activity determined by a novel technique.
Kidney Int
; 67(1): 187-92, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-15610242
16.
Salt handling in the distal nephron: lessons learned from inherited human disorders.
Am J Physiol Regul Integr Comp Physiol
; 288(4): R782-95, 2005 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15793031
17.
A common sequence variation of the CLCNKB gene strongly activates ClC-Kb chloride channel activity.
Kidney Int
; 65(1): 190-7, 2004 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-14675050
18.
Transient neonatal hyperkalemia in the antenatal (ROMK defective) Bartter syndrome.
J Pediatr
; 142(3): 318-23, 2003 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-12640382
19.
Role of cyclooxygenase-2 in hyperprostaglandin E syndrome/antenatal Bartter syndrome.
Kidney Int
; 62(1): 253-60, 2002 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12081585
20.
A new mutation (intron 9 +1 G>T) in the SLC12A3 gene is linked to Gitelman syndrome in Gypsies.
Kidney Int
; 65(1): 25-9, 2004 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-14675033