|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.
|
23595123 |
2013 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.
|
28780565 |
2017 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.
|
19812541 |
2009 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome.
|
22009864 |
2011 |
|
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Congenital nephrotic syndrome with prolonged renal survival without renal replacement therapy.
|
23949594 |
2013 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mutational analysis of podocyte genes in children with sporadic steroid-resistant nephrotic syndrome.
|
25501161 |
2014 |
|
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 |
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 |
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 |
GeneticVariation
|
disease |
UNIPROT |
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.
|
25804400 |
2015 |
|
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 |
CLINVAR |
Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.
|
24902943 |
2014 |
|
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 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.
|
22732337 |
2012 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
|
18503012 |
2008 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
|
20172850 |
2010 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome.
|
28392951 |
2017 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
[NPHS1 mutations in a Chinese family with congenital nephrotic syndrome].
|
16316524 |
2005 |
|
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 |
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 |