|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome.
|
10738002 |
2000 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Constitutional WT1 correlate with clinical features in children with progressive nephropathy.
|
11182928 |
2000 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel missense mutation of the Wt1 gene causing Denys-Drash syndrome with exceptionally mild renal manifestations.
|
10799199 |
2000 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cys388Phe is a novel mutation in the WT1 gene in the DDS.
|
11228042 |
2000 |
|
Denys-Drash Syndrome
|
1.000 |
CausalMutation
|
disease |
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
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The association of WT1 gene mutations with most cases of Denys-Drash syndrome is well described.
|
10762296 |
2000 |
|
Denys-Drash Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The mutations found in our cases occurred in the same exon of the WT1 gene as detected in Denys-Drash syndrome (DDS) and could not be explained by the previously proposed mechanism.
|
10571943 |
1999 |
|
Denys-Drash Syndrome
|
1.000 |
Biomarker
|
disease |
MGD |
A zinc finger truncation of murine WT1 results in the characteristic urogenital abnormalities of Denys-Drash syndrome.
|
10077614 |
1999 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the donor splice site in intron 9 of the Wilms' tumor (WT1) gene have been shown to cause Frasier syndrome and are distinct from WT1 exon mutations associated with Denys-Drash syndrome.
|
10505699 |
1999 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The mutations found in our cases occurred in the same exon of the WT1 gene as detected in Denys-Drash syndrome (DDS) and could not be explained by the previously proposed mechanism.
|
10571943 |
1999 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the WT1 gene causing Wilms tumors were first reported in WAGR syndrome (Wilms tumor, Aniridia, Genitourinary malformation, mental Retardation) and Denys Drash syndrome (pseudohermaphroditism, Wilms tumor, nephropathy), but only in a few patients with hypospadias and cryptorchidism without other signs of Denys Drash (DDS) or WAGR syndrome WT1 mutations were identified.
|
10022588 |
1999 |
|
Denys-Drash Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The mutations found in our cases occurred in the same exon of the WT1 gene as detected in Denys-Drash syndrome (DDS) and could not be explained by the previously proposed mechanism.
|
10571943 |
1999 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database.
|
9529364 |
1998 |
|
Denys-Drash Syndrome
|
1.000 |
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 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?
|
9475094 |
1998 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Patients with Denys-Drash syndrome (DDS) have been shown to be constitutionally heterozygous for mutations of the WT1 gene.
|
9168922 |
1997 |
|
Denys-Drash Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Donor splice-site mutations in WT1 are responsible for Frasier syndrome.
|
9398852 |
1997 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A novel mutation H373Y in the Wilms' tumor suppressor gene, WT1, associated with Denys-Drash syndrome.
|
8956030 |
1997 |
|
Denys-Drash Syndrome
|
1.000 |
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 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Denys-Drash syndrome was suspected and molecular analysis of the WT1 gene was performed, although no Wilms' tumor was identified.
|
8741319 |
1996 |
|
Denys-Drash Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
DNA binding capacity of the WT1 protein is abolished by Denys-Drash syndrome WT1 point mutations.
|
7795587 |
1995 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The WT1 gene is normally expressed during gonadal development and specific mutations in heterozygous form cause Drash syndrome, characterized by male pseudohermaphroditism and gonadal dysgenesis, renal failure and a predisposition for Wilms' tumour.
|
7607640 |
1995 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We encountered a patient with Denys-Drash syndrome associated with WT whose WT1 gene had a homozygous point mutation not only in WT but also in renal tissue adjacent to the WT and in the germline.
|
7875294 |
1995 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Analysis of exons 2-10 of the WT1 gene in constitutional DNA from five patients with DDS was carried out using the polymerase chain reaction (PCR) and direct DNA sequencing.
|
8112732 |
1994 |
|
Denys-Drash Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Analysis of exons 2-10 of the WT1 gene in constitutional DNA from five patients with DDS was carried out using the polymerase chain reaction (PCR) and direct DNA sequencing.
|
8112732 |
1994 |