Nephroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
We investigated pain sensitivity in humans with WAGR (Wilms tumor, aniridia, genitourinary anomaly, and range of intellectual disabilities) syndrome, who have variably sized heterozygous deletion of the 11p13 region.
|
30855519 |
2019 |
Nephroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our previous study of congenital aniridia patients revealed a noticeable number of aniridia patients with WAGR-region deletions but without Wilms' tumor in their medical history.
|
31304537 |
2019 |
Nephroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Interstitial deletions of the 11p13 region are known to cause WAGR (Wilms tumor, aniridia, genitourinary malformation, and "mental retardation") syndrome, a contiguous gene deletion syndrome due to haploinsufficiencies of the genes in this region, including WT1 and PAX6.
|
24357251 |
2014 |
Nephroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, aniridia, genito-urinary abnormalities, and mental retardation.
|
21660403 |
2011 |
Nephroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
WAGR (Wilms tumor, Aniridia, Genitourinary malformations and mental Retardation) syndrome is a rare genomic disorder caused by deletion of the 11p14-p12 chromosome region.
|
19096215 |
2008 |
Nephroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
These include WAGR (for Wilms tumor, aniridia, genitourinary anomalies, and mental retardation), and Frasier and Denys-Drash syndromes.
|
18385267 |
2008 |
Nephroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation.
|
17935232 |
2007 |
Nephroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The aniridia and predisposition for Wilms tumor seen in WAGR are caused by haploinsufficiency for PAX 6 and WT1, respectively.
|
16646034 |
2006 |
Nephroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The WAGR contiguous gene deletion syndrome is a combination of Wilms tumor, Aniridia, Genito-urinary abnormalities, and growth and mental retardation which is invariably associated with an 11p13 deletion.
|
15779023 |
2005 |
Nephroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The remaining four had chromosomal rearrangements: an unbalanced translocation, t(11;13), with a deletion including the WAGR (Wilms' tumor, aniridia, genitourinary abnormalities, and mental retardation) region, and three balanced rearrangements with what appear to be position effect breakpoints 3' of PAX6: (a) a t(7;11) with the 11p13 breakpoint approximately 30 kb downstream of PAX6, (b) a dir ins(12;11) with a breakpoint >50 kb from PAX6, and (c) an inv(11)(p13q13) with a breakpoint >75 kb downstream of PAX6.
|
12386836 |
2002 |
Nephroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the WT1 gene were identified in patients with WAGR (Wilms' tumor, aniridria, genitourinary abnormalities, and mental retardation), Denys-Drash syndrome, and Frasier syndrome (FS).
|
12050205 |
2002 |
Nephroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
They were examined because they had either isolated sporadic or familial aniridia, or aniridia with one or more of the WAGR (Wilms' tumour, aniridia, genital anomalies, and mental retardation) syndrome anomalies.
|
9132491 |
1997 |
Nephroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genital abnormalities associated with Wilms' tumors in the WAGR and Denys-Drash syndromes and the failure of the gonads to develop in Wilms' tumor gene (wt1)-homozygous mutant mice suggest that WT1 may also function in sexual development.
|
9815658 |
1997 |
Nephroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
Two eSTS markers have been further mapped with respect to a yeast artificial chromosome (YAC) contig close to the brain-derived neurotrophic factor (BDNF) gene and thus provide potential candidate genes for the mental retardation phenotype of WAGR (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) syndrome.
|
8717056 |
1995 |
Nephroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
WAGR (Wilms tumor, aniridia, genito-urinary abnormalities, mental retardation) syndrome in humans is associated with deletions of the 11p13 region.
|
7896291 |
1994 |
Nephroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Altered trans-activational properties of a mutated WT1 gene product in a WAGR-associated Wilms' tumor.
|
8402654 |
1993 |
Nephroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Fluorescence in situ hybridization (FISH) with biotin-labeled probes mapping to 11p13 has been used for the molecular analysis of deletions of the WAGR (Wilms tumor, aniridia, genitourinary abnormalities, and mental retardation) locus.
|
1334370 |
1992 |
Nephroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Two of these features are also seen in the WAGR (Wilms' tumour, aniridia, genito-urinary abnormalities, mental retardation) complex, known to be associated with deletions of chromosome region 11p13.
|
1849870 |
1991 |
Nephroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Complete physical map of the WAGR region of 11p13 localizes a candidate Wilms' tumor gene.
|
2154334 |
1990 |
Nephroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
The WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) region has been assigned to chromosome 11p13 on the basis of overlapping constitutional deletions found in affected individuals.
|
2539014 |
1989 |
Nephroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
All four del(11)(p13) cases presented with WAGR, a complex syndrome associated with a predisposition to Wilms' tumor (WT), aniridia (A), genitourinary abnormalities (G), and mental retardation (R).
|
2570677 |
1989 |
Nephroblastoma
|
0.100 |
Biomarker
|
disease |
BEFREE |
We report the cytogenetic findings observed in the cancer cells of a Wilms' tumor in a 11-month-old girl without the phenotype of the WAGR.
|
2550862 |
1989 |
Nephroblastoma
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Nine of these clones map to 11p13, and four of the nine [57(D11S89), 530(D11S90), 706(D11S93), and 1104(D11S95)] are confined to the same segment within p13 that contains catalase (CAT), the beta subunit of follicle stimulating hormone (FSHB), and the Wilms' tumor-aniridia (WAGR) gene complex.
|
2852164 |
1988 |