about
A systematic approach to mapping recessive disease genes in individuals from outbred populationsMutations in EMP2 cause childhood-onset nephrotic syndromeCOQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.Differential proteomic analysis of proteins induced by glucocorticoids in cultured murine podocytes.Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndromeAdequate use of allele frequencies in Hispanics--a problem elucidated in nephrotic syndromeNineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS)Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutationsA single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.Exome sequencing reveals cubilin mutation as a single-gene cause of proteinuria.Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.Respiratory-chain deficiency presenting as diffuse mesangial sclerosis with NPHS3 mutation.Integrin α3 mutations with kidney, lung, and skin disease.FAT1 mutations cause a glomerulotubular nephropathytarSVM: Improving the accuracy of variant calls derived from microfluidic PCR-based targeted next generation sequencing using a support vector machine.Integrative Genomics Identifies Novel Associations with APOL1 Risk Genotypes in Black NEPTUNE Subjects.Focal segmental glomerulosclerosis in association with neurofibromatosis type 1: a case report and proposed molecular pathwaysUsing Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort.Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis.ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.Steroid-resistant nephrotic syndrome: impact of genetic testing.ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling.Induction of antioxidant enzymes in murine podocytes precedes injury by puromycin aminonucleoside.Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.A Familial Infantile Renal Failure.A Case of Hyperphosphatemia and Elevated Fibroblast Growth Factor 23: A Brief Review of Hyperphosphatemia and Fibroblast Growth Factor 23 Pathway.Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients.A boy with proteinuria and focal global glomerulosclerosis: AnswersA boy with proteinuria and focal global glomerulosclerosis: QuestionErratum to: Evaluating Mendelian nephrotic syndrome genes for evidence for risk alleles or oligogenicity that explain heritability
P50
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P50
name
Virginia Vega-Warner
@en
Virginia Vega-Warner
@nl
type
label
Virginia Vega-Warner
@en
Virginia Vega-Warner
@nl
prefLabel
Virginia Vega-Warner
@en
Virginia Vega-Warner
@nl