Published in Kidney Int on January 01, 2003
C1q nephropathy in association with Gitelman syndrome: a case report. Pediatr Nephrol (2006) 1.75
Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects. Pediatr Nephrol (2011) 1.70
Spectrum of mutations in Gitelman syndrome. J Am Soc Nephrol (2011) 1.57
Gitelman's syndrome: towards genotype-phenotype correlations? Pediatr Nephrol (2006) 1.24
Genetic causes of hypercalciuric nephrolithiasis. Pediatr Nephrol (2008) 1.06
Recurrent deep intronic mutations in the SLC12A3 gene responsible for Gitelman's syndrome. Clin J Am Soc Nephrol (2010) 0.97
Genetics of hereditary disorders of magnesium homeostasis. Pediatr Nephrol (2003) 0.95
A founder mutation in the CLCNKB gene causes Bartter syndrome type III in Spain. Pediatr Nephrol (2005) 0.94
A cytoplasmic domain mutation in ClC-Kb affects long-distance communication across the membrane. PLoS One (2008) 0.86
Functional severity of CLCNKB mutations correlates with phenotypes in patients with classic Bartter's syndrome. J Physiol (2017) 0.85
The ClC-K2 Chloride Channel Is Critical for Salt Handling in the Distal Nephron. J Am Soc Nephrol (2016) 0.84
Genetics of type III Bartter syndrome in Spain, proposed diagnostic algorithm. PLoS One (2013) 0.83
Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome. J Korean Med Sci (2015) 0.83
Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations. World J Methodol (2015) 0.83
Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo-Bartter/Gitelman syndrome based on clinical characteristics. Genet Med (2015) 0.81
A novel mutation of CLCNKB in a Japanese patient of Gitelman-like phenotype with diuretic insensitivity to thiazide administration. Meta Gene (2014) 0.81
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. J Hum Genet (2014) 0.80
Gitelman or Bartter type 3 syndrome? A case of distal convoluted tubulopathy caused by CLCNKB gene mutation. BMJ Case Rep (2013) 0.79
Chronic renal failure in a boy with classic Bartter's syndrome due to a novel mutation in CLCNKB coding for the chloride channel. Eur J Pediatr (2008) 0.79
Ion channels in renal disease. Chem Rev (2012) 0.79
New perspective of ClC-Kb/2 Cl- channel physiology in the distal renal tubule. Am J Physiol Renal Physiol (2016) 0.79
CLCNKB mutations causing mild Bartter syndrome profoundly alter the pH and Ca2+ dependence of ClC-Kb channels. Pflugers Arch (2013) 0.78
Clinical and Genetic Spectrum of Bartter Syndrome Type 3. J Am Soc Nephrol (2017) 0.78
A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome. Braz J Med Biol Res (2016) 0.75
A novel mutation of CLCNKB in a Korean patient of mixed phenotype of Bartter-Gitelman syndrome. Korean J Pediatr (2016) 0.75
Poor phenotype-genotype association in a large series of patients with Type III Bartter syndrome. PLoS One (2017) 0.75
Mixed Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel variant in the CLCNKB gene. Springerplus (2014) 0.75
Congenital long QT syndrome aggravated by salt-wasting nephropathy. Heart Rhythm (2005) 0.75
Rectal Cancer in a Patient with Bartter Syndrome: A Case Report. Genes (Basel) (2017) 0.75
Genetic and physiological data implicating the new human gene G72 and the gene for D-amino acid oxidase in schizophrenia. Proc Natl Acad Sci U S A (2002) 3.11
Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients. J Mol Med (Berl) (2004) 2.68
Mechanotransduction in mouse inner ear hair cells requires transmembrane channel-like genes. J Clin Invest (2011) 2.17
Returning genetic research results to individuals: points-to-consider. Bioethics (2006) 2.01
Pulmonary hypertension in patients with end-stage renal disease. Chest (2003) 1.89
Pulmonary hypertension is an independent predictor of mortality in hemodialysis patients. Kidney Int (2009) 1.51
Monoubiquitylation of alpha-synuclein by seven in absentia homolog (SIAH) promotes its aggregation in dopaminergic cells. J Biol Chem (2007) 1.32
Ubiquitylation of synphilin-1 and alpha-synuclein by SIAH and its presence in cellular inclusions and Lewy bodies imply a role in Parkinson's disease. Proc Natl Acad Sci U S A (2004) 1.29
A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency. J Biol Chem (2002) 1.22
Phosphorylation of Parkin by the cyclin-dependent kinase 5 at the linker region modulates its ubiquitin-ligase activity and aggregation. J Biol Chem (2007) 1.15
α-Synuclein fate is determined by USP9X-regulated monoubiquitination. Proc Natl Acad Sci U S A (2011) 1.13
Pulmonary hypertension in hemodialysis patients: an unrecognized threat. Semin Dial (2006) 1.09
Pulmonary hypertension in chronic dialysis patients with arteriovenous fistula: pathogenesis and therapeutic prospective. Curr Opin Nephrol Hypertens (2006) 1.05
An ELISA method for the detection and quantification of human heparanase. Biochem Biophys Res Commun (2006) 1.03
Heparanase levels are elevated in the urine and plasma of type 2 diabetes patients and associate with blood glucose levels. PLoS One (2011) 1.01
Glycogen synthase kinase 3beta modulates synphilin-1 ubiquitylation and cellular inclusion formation by SIAH: implications for proteasomal function and Lewy body formation. J Biol Chem (2005) 1.01
PhRMA white paper on ADME pharmacogenomics. J Clin Pharmacol (2008) 0.99
Pathophysiology and clinical implications of microbubbles during hemodialysis. Semin Dial (2008) 0.99
Prospective-retrospective biomarker analysis for regulatory consideration: white paper from the industry pharmacogenomics working group. Pharmacogenomics (2011) 0.99
Mutation analysis in congenital Long QT Syndrome--a case with missense mutations in KCNQ1 and SCN5A. Genet Test (2003) 0.93
Effect of the cytochrome P450 2C19 inhibitor omeprazole on the pharmacokinetics and safety profile of bortezomib in patients with advanced solid tumours, non-Hodgkin's lymphoma or multiple myeloma. Clin Pharmacokinet (2009) 0.92
Pulmonary calcification in hemodialysis patients: correlation with pulmonary artery pressure values. Kidney Int (2004) 0.89
Stereocilia: the long and the short of it. Trends Mol Med (2003) 0.89
A rare bacteremia caused by Cedecea davisae in patient with chronic renal disease. Am J Case Rep (2013) 0.88
Haptoglobin phenotype as a predictive factor of mortality in diabetic haemodialysis patients. Ann Clin Biochem (2004) 0.86
Synphilin-1A: an aggregation-prone isoform of synphilin-1 that causes neuronal death and is present in aggregates from alpha-synucleinopathy patients. Proc Natl Acad Sci U S A (2006) 0.86
GWAS meta analysis identifies TSNARE1 as a novel Schizophrenia / Bipolar susceptibility locus. Sci Rep (2013) 0.84
α-Synuclein ubiquitination and novel therapeutic targets for Parkinson's disease. CNS Neurol Disord Drug Targets (2014) 0.84
Sniffing chronic renal failure in rat model by an array of random networks of single-walled carbon nanotubes. ACS Nano (2009) 0.83
Data mining of public SNP databases for the selection of intragenic SNPs. Hum Mutat (2002) 0.83
A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA. Ann Neurol (2002) 0.83
Arterio-venous access in end-stage renal disease patients and pulmonary hypertension. Ther Adv Respir Dis (2008) 0.83
Effects of diabetes mellitus, chronic renal failure and hemodialysis on serum and salivary antioxidant status. Nephron Clin Pract (2006) 0.81
Gold nanoparticle sensors for detecting chronic kidney disease and disease progression. Nanomedicine (Lond) (2012) 0.81
Retinal capillary basement membrane thickness in diabetic mice genetically modified at the haptoglobin locus. Diabetes Metab Res Rev (2007) 0.81
Incidence and risk factors for endocarditis among patients with health care-associated Staphylococcus aureus bacteraemia. Scand J Infect Dis (2012) 0.81
AF-6 is a positive modulator of the PINK1/parkin pathway and is deficient in Parkinson's disease. Hum Mol Genet (2013) 0.80
Increased renal hypertrophy in diabetic mice genetically modified at the haptoglobin locus. Diabetes Metab Res Rev (2005) 0.80
Renal slit diaphragm--the open zipper and the failing heart. Isr Med Assoc J (2007) 0.80
[Oral inhibitors of renin and their potential use as therapeutic agents in treating hypertension]. Harefuah (2008) 0.79
Vogt-Koyanagi-Harada syndrome associated with renal failure: a case report. J Nephrol (2006) 0.79
Role of haptoglobin phenotype in end-stage kidney disease. Nephron Exp Nephrol (2004) 0.79
Lack of plasma membrane targeting of a G172D mutant thiamine transporter derived from Rogers syndrome family. Mol Med (2002) 0.78
Robust physical methods that enrich genomic regions identical by descent for linkage studies: confirmation of a locus for osteogenesis imperfecta. BMC Genet (2009) 0.77
Large-scale candidate gene study to identify genetic risk factors predictive of paliperidone treatment response in patients with schizophrenia. Pharmacogenet Genomics (2015) 0.77
Karyomegalic Interstitial Nephritis with Chronic Kidney Disease. Isr Med Assoc J (2015) 0.77
Genome-wide association study of paliperidone efficacy. Pharmacogenet Genomics (2017) 0.75
SULT4A1 haplotype: conflicting results on its role as a biomarker of antipsychotic response. Pharmacogenomics (2014) 0.75
Case-control study of the association between select HLA genes and anti-erythropoietin antibody-positive pure red-cell aplasia. Pharmacogenomics (2008) 0.75
Developing the evidence base for applying pharmacogenomics: proceeds from DIA Workshop IV--Breakout Session 1. Pharmacogenomics (2009) 0.75
Herpes simplex viral infection presenting as fever of unknown origin and esophagitis in a renal transplant patient. Isr Med Assoc J (2002) 0.75
Intrapericardial steroid treatment for recurrent pericardial effusion in a patient with acute lymphoblastic Leukaemia. Hematol Oncol (2011) 0.75
Hyponatremia as a complication of cardiac catheterization: a prospective study. Am J Kidney Dis (2002) 0.75