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Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations

Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations

http://www.wikidata.org/entity/Q34281553

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Towards an understanding of kidney diseases associated with WT1 mutations Genetic testing in steroid-resistant nephrotic syndrome: when and how?Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.Exploring the genetic basis of early-onset chronic kidney disease.Effect of cyclosporin A on proteinuria in the course of glomerulopathy associated with WT1 mutations.A novel missense mutation of Wilms' Tumor 1 causes autosomal dominant FSGS.Discordant phenotypes in monozygotic twins with identical de novo WT1 mutation Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1.Genome-Wide Analysis of Wilms' Tumor 1-Controlled Gene Expression in Podocytes Reveals Key Regulatory Mechanisms 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.Diffuse mesangial sclerosis - Report of two cases.Actualizing the Benefits of Genomic Discovery in Pediatric Nephrology.Focal Segmental Glomerulosclerosis in a Patient with Ambiguous Genitalia: A Diagnostic Dilemma.Genetics of hereditary nephrotic syndrome: a clinical review.Focal segmental glomerulosclerosis and chronic kidney disease in pediatric patients.The renal biopsy in the genomic era.Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing.Malformation syndromes associated with disorders of sex development.Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.Clinical features and an atypical WT1 mutant site in a child with incomplete Denys-Drash syndrome.Unique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.Patients with different or identical genotypes of the WT1 gene present different phenotypes.Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?Whole Exome Sequencing of Patients with Steroid-Resistant Nephrotic Syndrome.Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.Clinical Aspects of WT1 and the Kidney.Steroid-resistant nephrotic syndrome caused by novel WT1 mutation inherited from a mosaic parent.Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.Frasier syndrome: four new cases with unusual presentations.Discordant expression of a new WT1 gene mutation in a family with monozygotic twins presenting with congenital nephrotic syndrome.Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms' tumor 1 (WT1) gene.Application of next-generation sequencing technology to diagnosis and treatment of focal segmental glomerulosclerosis.Genotype-phenotype analysis of pediatric patients with WT1 glomerulopathy.

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Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations

http://www.wikidata.org/entity/Q34281553

description

2010 nî lūn-bûn

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2010 թուականի Յուլիսին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի հուլիսին հրատարակված գիտական հոդված

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2010年の論文

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年学术文章

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2010年學術文章

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name

Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations

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Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations

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Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations

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type

label

Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations

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Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations

@en

Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations

@nl

prefLabel

Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations

@ast

Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations

@en

Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations

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Clinical Journal of the American Society of Nephrology

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Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations

@en

P2093

Bugsu Ovunc

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Dominik S Schoeb

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Fatih Ozaltin

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Friedhelm Hildebrandt

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Gil Chernin

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Members of the GPN Study Group

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Pawaree Saisawat

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Roxana Cleper

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Saskia F Heeringa

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P2860

Membranoproliferative glomerulonephritis associated with a mutation in Wilms' tumour suppressor gene 1

Wilms' tumor suppressor gene WT1: from structure to renal pathophysiologic features

A review of the phenotypic variation due to the Denys-Drash syndrome-associated germline WT1 mutation R362X

A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease

WT1 and glomerular diseases

Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database

Donor splice-site mutations in WT1 are responsible for Frasier syndrome.

Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.

An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis.

A clinical overview of WT1 gene mutations.

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1655-1662

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scholarly article

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10.2215/CJN.09351209

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9

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5

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Virginia Vega-Warner

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2010-07-01T00:00:00Z

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44902187

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20595692

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2974408

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