Associated Papers
Twins With Pathogenic RNF113A Variant Presenting With Testicular Regression Syndrome.
Resnick O et al.
Jcem Case Reports, 2026
Long-term kidney function in children with Wilms tumour and constitutional WT1 pathogenic variant.
Falcone MP et al.
Pediatric Nephrology (berlin, Germany), 2022
Clinically and biologically relevant subgroups of Wilms tumour defined by genomic and epigenomic analyses.
Brzezinski J et al.
British Journal of Cancer, 2021
33012783 (PubMed )
Supplement: 41416_2020_1102_MOESM1_ESM.pdf
Comprehensive Biology and Genetics Compendium of Wilms Tumor Cell Lines with Different WT1 Mutations.
Royer-Pokora B et al.
Cancers, 2020
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31848469 (PubMed )
Supplement: 41436_2019_722_MOESM1_ESM.pdf
Bilateral Wilms tumor and early presentation in pediatric patients is associated with the truncation of the Wilms tumor 1 protein.
Hu M et al.
The Journal of Pediatrics, 2013
Frequency of WT1 and 11p15 constitutional aberrations and phenotypic correlation in childhood Wilms tumour patients.
Segers H et al.
European Journal of Cancer (oxford, England : 1990), 2012
Clinical relevance of Wilms tumor 1 gene mutations in childhood acute myeloid leukemia.
Hollink IH et al.
Blood, 2009
Vertical transmission of a mutation in exon 1 of the WT1 gene: lessons for genetic counseling.
Regev M et al.
American Journal of Medical Genetics. Part A, 2008
Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9.
Mucha B et al.
Pediatric Research, 2006
Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.
Vincent MC et al.
European Journal of Human Genetics : Ejhg, 2003
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.
Jeanpierre C et al.
American Journal of Human Genetics, 1998
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