Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. - Wikidata - wikimedia - TriplyDB

Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

http://www.wikidata.org/entity/Q34639646

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Recurrence and Treatment after Renal Transplantation in Children with FSGS Genetic causes of focal segmental glomerulosclerosis: implications for clinical practice A retrospective study of focal segmental glomerulosclerosis: clinical criteria can identify patients at high risk for recurrent disease after first renal transplantation.Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing.NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.Steroid-resistant nephrotic syndrome: impact of genetic testing.Genetic testing for nephrotic syndrome and FSGS in the era of next-generation sequencing.Recurrence of idiopathic focal segmental glomerulosclerosis after kidney transplantation: experience of a Korean tertiary center.Familial FSGS.The amino acid mutations of the podocin in proteinuria: a meta-analysis.Response to cyclosporine in steroid-resistant nephrotic syndrome: discontinuation is possible.Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation R229Q Polymorphism of NPHS2 Gene in Group of Iraqi Children with Steroid-Resistant Nephrotic Syndrome Rare diseases, rare presentations: recognizing atypical inherited kidney disease phenotypes in the age of genomics Steroid-resistant nephrotic syndrome with mutations in NPHS2 (podocin): report from a three-generation family Clinical utility of genetic testing in children and adults with steroid-resistant nephrotic syndrome.The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis.Genetic testing in steroid-resistant nephrotic syndrome: why, who, when and how?WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome.Novel NPHS2 variant in patients with familial steroid-resistant nephrotic syndrome with early onset, slow progression and dominant inheritance pattern.Is the red cell distribution width strong predictor for treatment response in primary glomerulonephritides?A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis.Molecular Mechanisms of Proteinuria in Focal Segmental Glomerulosclerosis.Truncating Wilms Tumor Suppressor Gene 1 Mutation in an XX Female with Adult-Onset Focal Segmental Glomerulosclerosis and Streak Ovaries: A Case Report.Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome

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P2860

Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.

http://www.wikidata.org/entity/Q34639646

description

2010 nî lūn-bûn

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2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

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2010 թվականի հոտեմբերին հրատարակված գիտական հոդված

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2010年の論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年論文

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2010年论文

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Clinical value of NPHS2 analys ...... -resistant nephrotic syndrome.

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Clinical value of NPHS2 analys ...... -resistant nephrotic syndrome.

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Clinical value of NPHS2 analys ...... -resistant nephrotic syndrome.

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Clinical value of NPHS2 analys ...... -resistant nephrotic syndrome.

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Clinical value of NPHS2 analys ...... -resistant nephrotic syndrome.

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Clinical value of NPHS2 analys ...... -resistant nephrotic syndrome.

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Clinical value of NPHS2 analys ...... -resistant nephrotic syndrome.

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Clinical value of NPHS2 analys ...... -resistant nephrotic syndrome.

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Clinical Journal of the American Society of Nephrology

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Clinical value of NPHS2 analys ...... d-resistant nephrotic syndrome

@en

P2093

Bárbara Tazón-Vega

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FSGS Spanish Study Group

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Isabel Giménez

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José Ballarín

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María Ángeles Cobo

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Patricia Ruíz

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Rafael García-Maset

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Sheila Santín

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P2860

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

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

Clustal W and Clustal X version 2.0

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

CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility

Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation

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344-354

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10.2215/CJN.03770410

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2

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20947785

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3052225

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