Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome. - Test2 - elhamkhani - TriplyDB

Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.

Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.

http://www.wikidata.org/entity/Q42726858

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FSGS: Diagnosis and Diagnostic Work-Up Opportunities and Challenges of Genotyping Patients With Nephrotic Syndrome in the Genomic Era Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice Timing of renal replacement therapy does not influence survival and growth in children with congenital nephrotic syndrome caused by mutations in NPHS1: data from the ESPN/ERA-EDTA Registry.Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.Focal and segmental glomerulosclerosis: clinical and kidney biopsy correlations.Next-generation sequencing to dissect hereditary nephrotic syndrome in mice identifies a hypomorphic mutation in Lamb2 and models Pierson's syndrome Rituximab for troublesome cases of childhood nephrotic syndrome.Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1.Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity The Evidence-Based Approach to Adult-Onset Idiopathic Nephrotic Syndrome.GLCCI1 single nucleotide polymorphisms in pediatric nephrotic syndrome.It is time to take timing seriously in clinical genetics.Screening of WT1 mutations in exon 8 and 9 in children with steroid resistant nephrotic syndrome from a single centre and establishment of a rapid screening assay using high-resolution melting analysis in a clinical setting.Circulating suPAR in two cohorts of primary FSGS.Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis Genetic testing in nephrotic syndrome--challenges and opportunities.The Genetics of Nephrotic Syndrome.Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population Using Population Genetics to Interrogate the Monogenic Nephrotic Syndrome Diagnosis in a Case Cohort.A patient with nephrotic-range proteinuria and focal global glomerulosclerosis.Zinc supplementation as an adjunct to standard therapy in childhood nephrotic syndrome - a systematic review.Novel biomarkers in glomerular disease.Childhood nephrotic syndrome--current and future therapies.Primary focal and segmental glomerulosclerosis and soluble factor urokinase-type plasminogen activator receptor Steroid-resistant nephrotic syndrome: impact of genetic testing.How can genetics and epigenetics help the nephrologist improve the diagnosis and treatment of chronic kidney disease patients?Focal segmental glomerulosclerosis: towards a better understanding for the practicing nephrologist.Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing.Childhood nephrotic syndrome in the 21st century: What's new?Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.The etiology of congenital nephrotic syndrome: current status and challenges.Minimal change disease and idiopathic FSGS: manifestations of the same disease.Steroid-resistant nephrotic syndrome: a persistent challenge for pediatric nephrology.Molecular nephropathology: ready for prime time?A CD2AP Mutation Associated with Focal Segmental Glomerulosclerosis in Young Adulthood.

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P2860

Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.

http://www.wikidata.org/entity/Q42726858

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Clinical utility of genetic te ...... -resistant nephrotic syndrome.

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Clinical utility of genetic te ...... -resistant nephrotic syndrome.

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Clinical Journal of the American Society of Nephrology

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Clinical utility of genetic te ...... -resistant nephrotic syndrome.

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Bárbara Tazón-Vega

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Gemma Bullich

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Irene Silva

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Isabel Giménez

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José Ballarín

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Patricia Ruíz

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Rafael García-Maset

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Sheila Santín

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P2860

Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome

Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations

NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome

A simple salting out procedure for extracting DNA from human nucleated cells

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis

Genotype/phenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration

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1139-1148

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21415313

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3087781

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