|
Finnish congenital nephrotic syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Congenital nephrotic syndrome of the Finnish type (NPHS1) is an autosomal recessive disorder that is caused by mutations in the recently discovered nephrin gene, NPHS1 (AF035835).
|
9915943 |
1999 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy.
|
23949594 |
2013 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy.
|
23949594 |
2013 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.
|
11726550 |
2001 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.
|
11726550 |
2001 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.
|
11726550 |
2001 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Defective trafficking of nephrin missense mutants rescued by a chemical chaperone.
|
15213260 |
2004 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Elevated frequency and allelic heterogeneity of congenital nephrotic syndrome, Finnish type, in the old order Mennonites.
|
10577936 |
1999 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Examination of the kidneys in one fetus showed tubular cysts at the corticomedullary junction and diffuse effacement of the epithelial foot processes and microvillous transformation of the renal podocytes, findings that were similar to those reported in congenital nephrotic syndrome, Finnish type, that is caused by mutations in nephrin (NPHS1).
|
25557780 |
2015 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Functional analysis of NPHS1 mutations in Japanese patients.
|
24142548 |
2014 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.
|
25720465 |
2015 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genetic basis of congenital and infantile nephrotic syndromes.
|
22099579 |
2011 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Genetic forms of nephrotic syndrome: a single-center experience in Brussels.
|
18709391 |
2009 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
|
28117080 |
2017 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
|
28117080 |
2017 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
|
20507940 |
2010 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
|
20507940 |
2010 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.
|
11854170 |
2002 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Genotypephenotype correlations of NPHS1 and NPHS2 mutations in nephrotic syndrome advocate a functional inter-relationship in glomerular filtration.
|
11854170 |
2002 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Here we show the characteristic splicing of NPHS1 mRNA in the normal and CNF kidneys and localize nephrin exclusively in the glomerulus and to the filtration slit area by light and immunoelectron microscopy.
|
10550324 |
1999 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
|
20798252 |
2010 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
|
20798252 |
2010 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
In the present study, the genomic structure of the nephrin gene was analyzed, and 35 NPHS1 patients were screened for the presence of mutations in the gene.
|
9915943 |
1999 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
In the present study, the genomic structure of the nephrin gene was analyzed, and 35 NPHS1 patients were screened for the presence of mutations in the gene.
|
9915943 |
1999 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
In the present study, the genomic structure of the nephrin gene was analyzed, and 35 NPHS1 patients were screened for the presence of mutations in the gene.
|
9915943 |
1999 |