|
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
CLINVAR |
Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.
|
24902943 |
2014 |
|
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 |
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 |
CLINVAR |
NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.
|
26560236 |
2016 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type.
|
19194555 |
2009 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Rituximab treatment for recurrence of nephrotic syndrome in a pediatric patient after renal transplantation for congenital nephrotic syndrome of Finnish type.
|
21672106 |
2012 |
|
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 |
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 |
Mutations or deregulation of NPHS1 are associated with a variety of renal diseases, including the Finnish type congenital nephrotic syndrome.
|
15579507 |
2004 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
We strongly recommend the use of mutation analysis of the NPHS1 gene to confirm the AFP results in prenatal diagnosis of NPHS1.
|
12047969 |
2002 |
|
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.
|
19406966 |
2009 |