Frasier Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Frasier Syndrome
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
Frasier Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Frasier Syndrome
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Frasier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Frasier syndrome (FS) and Denys-Drash syndrome (DDS) are two disorders associated with mutations in the WT1 gene.
|
17935232 |
2007 |
Frasier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Frasier syndrome (FS) is characterized by gonadal dysgenesis with a high risk for development of GB as well as chronic renal failure in early adulthood, and is known to arise from a splice site mutation in intron 9 of the Wilms' tumor 1 gene (WT1).
|
22815844 |
2012 |
Frasier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A splice mutation in intron 9 of the WT1 gene was recently described in patients with FS.
|
11954756 |
2002 |
Frasier Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
|
23788249 |
2013 |
Frasier Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1.
|
25818337 |
2015 |
Frasier Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Clinical pictures and novel mutations of WT1-associated Denys-Drash syndrome in two Chinese children.
|
21851196 |
2011 |
Frasier Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology.
|
9108089 |
1997 |
Frasier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Denys-Drash syndrome and Frasier syndrome are related diseases caused by mutations in the WT1 gene.
|
10763762 |
2000 |
Frasier Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome.
|
10571943 |
1999 |
Frasier Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome.
|
10571943 |
1999 |
Frasier Syndrome
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome.
|
10571943 |
1999 |
Frasier Syndrome
|
0.800 |
CausalMutation
|
disease |
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
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Frasier syndrome: four new cases with unusual presentations.
|
23295293 |
2012 |
Frasier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis using standard methods for DNA sequencing confirmed FS due to a WT1 gene mutation, IVS9+4C>T.
|
22908070 |
2013 |
Frasier Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
|
23515051 |
2013 |
Frasier Syndrome
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genotype-phenotype associations in WT1 glomerulopathy.
|
24402088 |
2014 |
Frasier Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.
|
1302008 |
1992 |
Frasier Syndrome
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Gonadal tumor in Frasier syndrome: a review and classification.
|
25623218 |
2015 |
Frasier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here we show that a decrease in WT1 + KTS isoforms due to disruption of alternative splicing of the WT1 gene in a FS patient is associated with diminished expression of the transcription factors SRY and SOX9 in Sertoli cells.
|
18271004 |
2008 |
Frasier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this report, we identify a classic mutation in the Wilms' tumor 1 gene in one of the original cases of Frasier syndrome reported in this Journal in 1964.
|
15973330 |
2005 |
Frasier Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Molecular analysis of Frasier syndrome: mutation in the WT1 gene in a girl with gonadal dysgenesis and nephronophthisis.
|
12199335 |
2003 |