|
Finnish congenital nephrotic syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.
|
9660941 |
1998 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.
|
9660941 |
1998 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.
|
9660941 |
1998 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome.
|
9660941 |
1998 |
|
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 |
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 |
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 |
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 |
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 |
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 |
Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type.
|
10652016 |
2000 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients.
|
10972661 |
2000 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type.
|
10652016 |
2000 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
Cloning of rat nephrin: expression in developing glomeruli and in proteinuric states.
|
10792613 |
2000 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, we correlated the NPHS1 gene mutations to the clinical features and renal findings in 46 Finnish NPHS1 children.
|
10972661 |
2000 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
Nephrin in experimental glomerular disease.
|
11012881 |
2000 |
|
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 |
Congenital nephrotic syndrome, Finnish type (CNF or NPHS1), is an autosomal recessive disease characterized by massive proteinuria and development of nephrotic syndrome shortly after birth.
|
11317351 |
2001 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Congenital nephrotic syndrome, Finnish type (CNF or NPHS1), is an autosomal recessive disease characterized by massive proteinuria and development of nephrotic syndrome shortly after birth.
|
11317351 |
2001 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Congenital nephrotic syndrome, Finnish type (CNF or NPHS1), is an autosomal recessive disease characterized by massive proteinuria and development of nephrotic syndrome shortly after birth.
|
11317351 |
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 |
Interaction with podocin facilitates nephrin signaling.
|
11562357 |
2001 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Congenital nephrotic syndrome, Finnish type (CNF or NPHS1), is an autosomal recessive disease characterized by massive proteinuria and development of nephrotic syndrome shortly after birth.
|
11317351 |
2001 |