Associated Papers
Molecular Diagnosis of 46,XY Disorders of Sex Development: An Efficient Initial Molecular Analysis Using a Custom-Designed Targeted Gene Panel in a Single-Center Study.
Poyrazoglu S et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2026
New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines.
Fernández-Suárez E et al.
Npj Genomic Medicine, 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
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
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
High-Throughput Splicing Assays Identify Known and Novel WT1 Exon 9 Variants in Nephrotic Syndrome.
Smith C et al.
Kidney International Reports, 2023
Frasier Syndrome: A 15-Year-Old Phenotypically Female Adolescent Presenting with Delayed Puberty and Nephropathy.
Shao Q et al.
Children (basel, Switzerland), 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
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 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
A critical re-analysis of cases of post-transplantation recurrence in genetic nephrotic syndrome.
Mason AE et al.
Pediatric Nephrology (berlin, Germany), 2021
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
Frasier Syndrome: A Rare Cause of Refractory Steroid-Resistant Nephrotic Syndrome.
Huang YC et al.
Children (basel, Switzerland), 2021
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
Once-Daily Low-Dose Cyclosporine A Treatment with Angiotensin Blockade for Long-Term Remission of Nephropathy in Frasier Syndrome.
Chiba Y et al.
The Tohoku Journal of Experimental Medicine, 2019
Genetic Causes of Rare Pediatric Ovarian Tumors.
Plevová P et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019
Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis.
Gomes NL et al.
Clinical Endocrinology, 2018
Clinical heterogeneity in children with gonadal dysgenesis associated with non-mosaic 46,XY karyotype.
Wong YS et al.
Journal of Pediatric Urology, 2017
Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children.
Wang Y et al.
Gene, 2017
WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome.
Ramanathan AS et al.
Molecular and Cellular Biochemistry, 2017
Wilms' tumour 1 gene mutations in south Indian children with steroid-resistant nephrotic syndrome.
Kumar AS et al.
The Indian Journal of Medical Research, 2016
Clinical and molecular characterization of patients with heterozygous mutations in wilms tumor suppressor gene 1.
Lehnhardt A et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2015
Genetic mutations and somatic anomalies in association with 46,XY gonadal dysgenesis.
Bastian C et al.
Fertility and Sterility, 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
Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing.
Joshi S et al.
Acta Paediatrica (oslo, Norway : 1992), 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
Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.
Benoit G et al.
Pediatric Nephrology (berlin, Germany), 2010
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
Genetic forms of nephrotic syndrome: a single-center experience in Brussels.
Ismaili K et al.
Pediatric Nephrology (berlin, Germany), 2009
46,XY disorders of sex development (DSD).
Mendonca BB et al.
Clinical Endocrinology, 2009
Clinical and genetic findings of five patients with WT1-related disorders.
Andrade JG et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2008
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
WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome.
Cho HY et al.
Pediatric Nephrology (berlin, Germany), 2008
Hydrothorax in a patient with Denys-Drash syndrome associated with a diaphragmatic defect.
Cho HY et al.
Pediatric Nephrology (berlin, Germany), 2006
WT1 mutations in nephrotic syndrome revisited. High prevalence in young girls, associations and renal phenotypes.
Aucella F et al.
Pediatric Nephrology (berlin, Germany), 2006
Posttransplant recurrence of proteinuria in a case of focal segmental glomerulosclerosis associated with WT1 mutation.
Ghiggeri GM et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 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
Gonadal Function in 15 Patients Associated with WT1 Gene Mutations.
Maesaka A et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2006
An N-terminal WT1 mutation (P181S) in an XY patient with ambiguous genitalia, normal testosterone production, absence of kidney disease and associated heart defect: enlarging the phenotypic spectrum of WT1 defects.
Köhler B et al.
European Journal of Endocrinology, 2004