Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Treatment and outcome of congenital nephrotic syndrome.
|
29474669 |
2019 |
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 |
Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome.
|
28392951 |
2017 |
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 |
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.
|
28204945 |
2017 |
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.
|
28204945 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
Rapid Response to Cyclosporin A and Favorable Renal Outcome in Nongenetic Versus Genetic Steroid-Resistant Nephrotic Syndrome.
|
26668027 |
2016 |
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.
|
26560236 |
2016 |
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome.
|
27019444 |
2016 |
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 |
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 |
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 |
Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.
|
25720465 |
2015 |
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 |
CLINVAR |
Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome.
|
25729976 |
2015 |
Finnish congenital nephrotic syndrome
|
0.800 |
GeneticVariation
|
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 |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
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 |
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.
|
24742477 |
2014 |
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 |
Functional analysis of NPHS1 mutations in Japanese patients.
|
24142548 |
2014 |
Finnish congenital nephrotic syndrome
|
0.800 |
CausalMutation
|
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 |
Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.
|
24742477 |
2014 |