Frasier Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.
|
28204945 |
2017 |
Frasier Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1.
|
25818337 |
2015 |
Frasier Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.
|
24856380 |
2014 |
WAGR Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
|
23515051 |
2013 |
Nephroblastoma
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
|
23515051 |
2013 |
Denys-Drash Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
|
23515051 |
2013 |
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
|
23515051 |
2013 |
Frasier Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
|
23515051 |
2013 |
Frasier Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Frasier syndrome: four new cases with unusual presentations.
|
23295293 |
2012 |
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
|
|
0.700 |
CausalMutation
|
CLINVAR |
WT1 gene mutations in Chinese children with early onset nephrotic syndrome.
|
20442690 |
2010 |
Denys-Drash Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy?
|
10762296 |
2000 |
Denys-Drash Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.
|
9499425 |
1998 |
Frasier Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.
|
9499425 |
1998 |
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
|
|
0.700 |
CausalMutation
|
CLINVAR |
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms.
|
9499425 |
1998 |
Denys-Drash Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
|
9398852 |
1997 |
Steroid-resistant nephrotic syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.
|
1302008 |
1992 |
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.
|
1302008 |
1992 |
Denys-Drash Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.
|
1302008 |
1992 |
NEPHROTIC SYNDROME, TYPE 4
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.
|
1302008 |
1992 |
Frasier Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.
|
1302008 |
1992 |