(Q39229884)

10 September 2017

Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children (English)

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10 September 2017

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Corinne Antignac

8

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author name string

Ibtihel Benhaj Mbarek

1

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10 September 2017

Saoussen Abroug

2

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10 September 2017

Asma Omezzine

3

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10 September 2017

Audrey Pawtowski

4

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10 September 2017

Marie Claire Gubler

5

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10 September 2017

Ali Bouslama

6

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10 September 2017

Abdelaziz Harbi

7

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10 September 2017

2 December 2010

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10 September 2017

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10 September 2017

26

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10 September 2017

2

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10 September 2017

241-249

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https://scigraph.springernature.com/pub.10.1007/s00467-010-1694-8

10 September 2017

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cites work

Pitfalls in homozygosity mapping.

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00467-010-1694-8

Familial forms of nephrotic syndrome.

21 January 2018

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Crossref

https://api.crossref.org/works/10.1007%2FS00467-010-1694-8

Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome.

21 January 2018

1 reference

12 December 2020

Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome

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12 December 2020

Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology

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12 December 2020

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

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12 December 2020

Misleading findings of homozygosity mapping resulting from three novel mutations in NPHS1 encoding nephrin in a highly inbred community.

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12 December 2020

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

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12 December 2020

Low prevalence of NPHS2 mutations in African American children with steroid-resistant nephrotic syndrome

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12 December 2020

Variable phenotype of Pierson syndrome

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12 December 2020

Clinical spectrum of Denys-Drash and Frasier syndrome

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12 December 2020

Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome

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12 December 2020

Human non-synonymous SNPs: server and survey

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12 December 2020

Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites

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12 December 2020

Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome

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12 December 2020

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

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12 December 2020

Congenital nephrotic syndrome

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12 December 2020

Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review

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12 December 2020

DNA binding capacity of the WT1 protein is abolished by Denys—Drash syndrome WT1 point mutations

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12 December 2020

Primary focal segmental glomerulosclerosis

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12 December 2020

Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology

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12 December 2020

Genetics of nephrotic syndrome: new insights into molecules acting at the glomerular filtration barrier

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12 December 2020

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

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12 December 2020

Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum

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12 December 2020

NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.

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12 December 2020

WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome.

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12 December 2020

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

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12 December 2020

NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome

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12 December 2020

WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour.

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12 December 2020

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

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12 December 2020

Primary nephrotic syndrome in children: clinical significance of histopathologic variants of minimal change and of diffuse mesangial hypercellularity. A Report of the International Study of Kidney Disease in Children

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12 December 2020

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

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12 December 2020

[AN UNUSUAL CONGENITAL AND FAMILIAL CONGENITAL MALFORMATIVE COMBINATION INVOLVING THE EYE AND KIDNEY.]

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12 December 2020

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

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12 December 2020

PLC-epsilon: a shared effector protein in Ras-, Rho-, and G alpha beta gamma-mediated signaling

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12 December 2020

Prediction of deleterious human alleles

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12 December 2020

IgM nephropathy: clinical picture and long-term prognosis.

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12 December 2020

Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome

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12 December 2020

Renal basement membrane components

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12 December 2020

Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach

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12 December 2020

Short versus standard prednisone therapy for initial treatment of idiopathic nephrotic syndrome in children. Arbeitsgemeinschaft für Pädiatrische Nephrologie

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12 December 2020

Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping.

1 reference

12 December 2020

Nephrotic syndrome in the first year of life: two thirds of cases are caused by mutations in 4 genes (NPHS1, NPHS2, WT1, and LAMB2).

1 reference

12 December 2020

Congenital nephrotic syndrome in mice lacking CD2-associated protein

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12 December 2020

Prediction of human mRNA donor and acceptor sites from the DNA sequence.

1 reference

12 December 2020

Genetic forms of nephrotic syndrome: a single-center experience in Brussels

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12 December 2020

10.1007/S00467-010-1694-8

Identifiers

DOI

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10 September 2017

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