Associated Papers
Whole-Exome Sequencing for Molecular Diagnosis of Paediatric Nephrotic Syndrome in Africa: A Call for Implementation.
Gcobo T et al.
Genes, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Whole genome sequencing identifies monogenic disease in 56.1% of families with early-onset steroid-resistant nephrotic syndrome.
Soliman NA et al.
Human Genetics, 2025
WT1 Gene Pathogenic Variants: Clinical Challenges and Treatment Strategies in Pediatric Nephrology-One Center Practice.
Janek A et al.
International Journal of Molecular Sciences, 2025
A novel variant leads to WT1-related nephrotic syndrome and differences of sex development: a case report.
Gao S et al.
Frontiers in Pediatrics, 2025
In steroid-resistant nephrotic syndrome that meets the strict definition, monogenic variants are less common than expected.
Ichikawa Y et al.
Pediatric Nephrology (berlin, Germany), 2024
Clinical Characterization of a National Cohort of Patients With Germline WT1 Variants Including Late-Onset Phenotypes.
van Peer SE et al.
Kidney International Reports, 2024
Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population.
Watanabe A et al.
Kidney International Reports, 2024
Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.
López Rivera JJ et al.
Journal of Personalized Medicine, 2024
A multicenter study investigating the genetic analysis of childhood steroid-resistant nephrotic syndrome: Variants in COL4A5 may not be coincidental.
Li S et al.
Plos One, 2024
High-Throughput Splicing Assays Identify Known and Novel WT1 Exon 9 Variants in Nephrotic Syndrome.
Smith C et al.
Kidney International Reports, 2023
New insights from trio whole-exome sequencing in the children with kidney disease: A single-center retrospective cohort study.
Chen Y et al.
Molecular Genetics & Genomic Medicine, 2023
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Doreille A et al.
Kidney International Reports, 2023
Bilateral Gonadoblastoma in a 6-Year-old Girl With Frasier Syndrome: Need for Early Preventive Gonadectomy.
Kollios K et al.
Journal of Pediatric Hematology/oncology, 2022
Long-term kidney function in children with Wilms tumour and constitutional WT1 pathogenic variant.
Falcone MP et al.
Pediatric Nephrology (berlin, Germany), 2022
The Clinical and Genetic Features in Chinese Children With Steroid-Resistant or Early-Onset Nephrotic Syndrome: A Multicenter Cohort Study.
Zhu X et al.
Frontiers in Medicine, 2022
Mutational landscape of TRPC6, WT1, LMX1B, APOL1, PTPRO, PMM2, LAMB2 and WT1 genes associated with Steroid resistant nephrotic syndrome.
Thakor JM et al.
Molecular Biology Reports, 2021
Transposon clusters as substrates for aberrant splice-site activation.
Alvarez MEV et al.
Rna Biology, 2021
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Immune-complex glomerulonephritis with a membranoproliferative pattern in Frasier syndrome: a case report and review of the literature.
Matsuoka D et al.
Bmc Nephrology, 2020
A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review.
Lavi E et al.
Pediatric Endocrinology Reviews : Per, 2020
Laparoscopically Removed Streak Gonad Revealed Gonadoblastoma in Frasier Syndrome.
Hashimoto K et al.
Anticancer Research, 2017
Variability in phenotype induced by the podocin variant R229Q plus a single pathogenic mutation.
Phelan PJ et al.
Clinical Kidney Journal, 2015
Gonadal tumor in Frasier syndrome: a review and classification.
Ezaki J et al.
Cancer Prevention Research (philadelphia, Pa.), 2015
A new role for wilms tumor protein 1: differential activities of + KTS and -KTS variants to regulate LHβ transcription.
Bagchi D et al.
Plos One, 2015
Genotype-phenotype associations in WT1 glomerulopathy.
Lipska BS et al.
Kidney International, 2014
[Mutational analysis of MYO1E in Chinese children with familial steroid-resistant nephrotic syndrome].
Zhao F et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2014
Wilms' tumor suppressor gene mutations in girls with sporadic isolated steroid-resistant nephrotic syndrome.
Yang YH et al.
Genetics and Molecular Research : Gmr, 2013
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
Lipska BS et al.
Kidney International, 2013
Frasier syndrome: four new cases with unusual presentations.
Guaragna MS et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2012
A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation.
Hersmus R et al.
Plos One, 2012
Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms' tumor 1 (WT1) gene.
Megremis S et al.
European Journal of Pediatrics, 2011
Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations.
Chernin G et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2010
WT1 gene mutations in Chinese children with early onset nephrotic syndrome.
Li J et al.
Pediatric Research, 2010
A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9.
Fujita S et al.
Clinical Nephrology, 2010
Genetic forms of nephrotic syndrome: a single-center experience in Brussels.
Ismaili K et al.
Pediatric Nephrology (berlin, Germany), 2009
Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome.
Schumacher V et al.
Molecular Reproduction and Development, 2008
[Clinical characteristics and WT1 genetic analysis of patients with steroid-resistant nephrotic syndrome accompanied with genitourinary malformations].
Li JG et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008
Eye involvement in children with primary focal segmental glomerulosclerosis.
Ozaltin F et al.
Pediatric Nephrology (berlin, Germany), 2008
WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome.
Cho HY et al.
Pediatric Nephrology (berlin, Germany), 2008
WT1 mutation and podocyte molecular expression in a Chinese Frasier syndrome patient.
Li J et al.
Pediatric Nephrology (berlin, Germany), 2007
Clinical characteristics and WT1 genetic analysis of patients with steroid resistant nephrotic syndrome accompanied with genitourinary malformations.
Li JG et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2007
WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes.
Aucella F et al.
Pediatric Nephrology (berlin, Germany), 2006
Hypergonadotropic hypogonadism and renal failure due to WT1 mutation.
Benz K et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2006
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
Frasier syndrome comes full circle: genetic studies performed in an original patient.
Wang NJ et al.
The Journal of Pediatrics, 2005