|
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 |
|
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.
|
18614772 |
2008 |
|
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
To investigate the mechanisms by which mutations might cause glomerular protein leak, we analysed NPHS1/NPHS2 genotype/phenotype relationships in 41 non-Finnish CNF patients, four patients with congenital (onset 0 to 3 months) focal segmental glomerulosclerosis and five patients with possible SRN1 (onset 6 months to 2 years).
|
11854170 |
2002 |
|
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.
|
19812541 |
2009 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Neutropenia in congenital nephrotic syndrome of the Finnish type: role of urinary ceruloplasmin loss.
|
19423745 |
2009 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.
|
25407002 |
2015 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Recurrence of proteinuria following renal transplantation in congenital nephrotic syndrome of the Finnish type.
|
16518627 |
2006 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.
|
24742477 |
2014 |
|
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 |
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
|
25349199 |
2015 |
|
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Genetic basis of congenital and infantile nephrotic syndromes.
|
22099579 |
2011 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations.
|
15338398 |
2004 |
|
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 |
CausalMutation
|
disease |
CLINVAR |
Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients.
|
10972661 |
2000 |
|
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 |
Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type.
|
19194555 |
2009 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
NPHS1 gene mutation in Japanese patients with congenital nephrotic syndrome.
|
19321760 |
2009 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS).
|
15086927 |
2004 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Treatment and outcome of congenital nephrotic syndrome.
|
29474669 |
2019 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome.
|
15780077 |
2005 |
|
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 |
Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy.
|
23949594 |
2013 |
|
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 |