Disease: Frasier syndrome
- 50 Years Ago in TheJournal ofPediatrics: Fifty Years from Syndrome to Gene
- A 46,XY female DSD patient with bilateral gonadoblastoma, a novel SRY missense mutation combined with a WT1 KTS splice-site mutation
- A biological definition of neuronal α-synuclein disease: towards an integrated staging system for research
- A case of Potter sequence with WT1 mutation
- A cell-autonomous role for WT1 in regulating Sry in vivo
- A child with isolated nephrotic syndrome and WT1 mutation presenting as a 46, XY phenotypic male
- A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9
- A novel Wilms' tumor 1 gene mutation in a child with severe renal dysfunction and persistent renal blastema
- A novel WT1 gene mutation in a three-generation family with progressive isolated focal segmental glomerulosclerosis
- A review of the genetic background in complicated WT1-related disorders
- A Unique Presentation of XY Gonadal Dysgenesis in Frasier Syndrome due to WT1 Mutation and a Literature Review
- Aetiological bases of 46,XY disorders of sex development in the Hong Kong Chinese population
- Alternative splicing and its role in pathologies of the endocrine system
- Ambiguous genitalia in neonates: a 4-year prospective study in a localized area
- Amenorrhea in a pediatric kidney transplant recipient: Answers
- Analysis of solid ovarian tumours in a Spanish paediatric population
- Atypical clinical presentation of a WT1-related syndrome associated with a novel exon 6 gene mutation
- Bilateral Gonadoblastoma in a 6-Year-old Girl With Frasier Syndrome: Need for Early Preventive Gonadectomy
- Bilateral gonadoblastoma with dysgerminoma and pilocytic astrocytoma with WT1 GT-IVS9 mutation: A 46 XY phenotypic female with Frasier syndrome
- Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms' tumor 1 (WT1) gene
- Case study: a minimally invasive approach to the treatment of Klippel-Trenaunay syndrome
- Channelopathy as a SUDEP Biomarker in Dravet Syndrome Patient-Derived Cardiac Myocytes
- Characteristics of testicular dysgenesis syndrome and decreased expression of SRY and SOX9 in Frasier syndrome
- Clinical and genetic findings of five patients with WT1-related disorders
- Clinical and pathological features and mutational types of WT1 mutation-associated nephropathy
- Clinical Aspects of WT1 and the Kidney
- Clinical heterogeneity in children with gonadal dysgenesis associated with non-mosaic 46,XY karyotype
- Congenital diaphragmatic eventration with pulmonary dysplasia in Frasier syndrome due to a WT1 mutation of c.1432+5(IVS9)G>A
- Congenital diaphragmatic eventration with pulmonary dysplasia in Frasier syndrome due to a WT1 mutation of c.1432+5(IVS9)G>A
- Denys-Drash syndrome associated WT1 glutamine 369 mutants have altered sequence-preferences and altered responses to epigenetic modifications
- Different clinical presentations of WT1 gene mutations
- Diffuse mesangial sclerosis - Report of two cases
- Discordant phenotypes in monozygotic twins with identical de novo WT1 mutation
- Early presentation of bilateral gonadoblastomas in a Denys-Drash syndrome patient: a cautionary tale for prophylactic gonadectomy
- Effects of WT1 gene downregulation on apoptosis in porcine fetal fibroblasts
- Endovascular radiofrequency ablation: a novel treatment of venous insufficiency in Klippel-Trenaunay patients
- Evaluation of pathogenicity of WT1 intron variants by in vitro splicing analysis
- Evolutive study of children with diffuse mesangial sclerosis
- Exonic WT1 pathogenic variants in 46,XY DSD associated with gonadoblastoma
- Frasier syndrome in 17-year-old girl--case report
- Frasier syndrome, a potential cause of end-stage renal failure in childhood
- Frasier Syndrome: A 15-Year-Old Phenotypically Female Adolescent Presenting with Delayed Puberty and Nephropathy
- Frasier Syndrome: A Rare Cause of Refractory Steroid-Resistant Nephrotic Syndrome
- Frasier syndrome: early gonadoblastoma and cyclosporine responsiveness
- Frasier syndrome: four new cases with unusual presentations
- Gaps in Knowledge About COVID-19 Among US Residents Early in the Outbreak
- Genetic analysis of fin development in zebrafish identifies furin and hemicentin1 as potential novel fraser syndrome disease genes
- Genetic connectivity among swarming sites in the wide ranging and recently declining little brown bat (Myotis lucifugus)
- Genetic forms of nephrotic syndrome: a single-center experience in Brussels
- Genotype-phenotype correlation of <em>WT1</em> mutation-related nephropathy in Chinese children
- Genotype-phenotype correlations: filling the void
- Genotype/phenotype correlation in nephrotic syndrome caused by WT1 mutations
- Gonadal tumor in Frasier syndrome: a review and classification
- Heterogeneity of human WT1 gene
- High-Throughput Splicing Assays Identify Known and Novel <em>WT1</em> Exon 9 Variants in Nephrotic Syndrome
- High-Throughput Splicing Assays Identify Known and Novel WT1 Exon 9 Variants in Nephrotic Syndrome
- Immune-complex glomerulonephritis with a membranoproliferative pattern in Frasier syndrome: a case report and review of the literature
- Immunosuppressant-resistant nephrotic syndrome and primary amenorrhea: A case report of adult Frasier syndrome and literature review
- Initial experience from a renal genetics clinic demonstrates a distinct role in patient management
- International issues in abusive head trauma
- Laparoscopically Removed Streak Gonad Revealed Gonadoblastoma in Frasier Syndrome
- Long-term outcomes and molecular analysis of a large cohort of patients with 46,XY disorder of sex development due to partial gonadal dysgenesis
- Malformation syndromes associated with disorders of sex development
- Management of Wilms tumors in Drash and Frasier syndromes
- Mutations in WT1 in boys with sporadic isolated steroid-resistant nephrotic syndrome
- New insights into the function of the Wilms tumor suppressor gene WT1 in podocytes
- Once-Daily Low-Dose Cyclosporine A Treatment with Angiotensin Blockade for Long-Term Remission of Nephropathy in Frasier Syndrome
- Patients with different or identical genotypes of the WT1 gene present different phenotypes
- Pituitary origin of persistently elevated human chorionic gonadotropin in a patient with gonadal failure
- Post-transplant lymphoproliferative disorder--case reports of three children with kidney transplant
- Proteinuria in Frasier syndrome
- Recurrence of a dysgerminoma in Frasier syndrome
- Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome
- Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome
- Repression of CMIP transcription by WT1 is relevant to podocyte health
- Response to letter, broken bones, and irresponsible testimony: Enough is enough already: The flawed Ehlers-Danlos syndrome infant fragility theory should not rule
- Scn2b Deletion in Mice Results in Ventricular and Atrial Arrhythmias
- Secondary Vasculitis Attributable to Post-COVID Syndrome
- Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C>T mutation
- Sertoli cell tumor and gonadoblastoma in an untreated 29-year-old 46,XY phenotypic male with Frasier syndrome carrying a WT1 IVS9+4C>T mutation
- Suspicion of Frasier's Syndrome in the Nephrology Unit of the State University Hospital of Haiti: Case Study and Review of Literature
- Syndromic Wilms tumor: a review of predisposing conditions, surveillance and treatment
- Systematic Review of Genotype-Phenotype Correlations in Frasier Syndrome
- The <em>-KTS</em> splice variant of WT1 is essential for ovarian determination in mice
- The podocyte as a target: cyclosporin A in the management of the nephrotic syndrome caused by WT1 mutations
- The ratio of +/-KTS splice variants of the Wilms' tumour suppressor protein WT1 mRNA is determined by an intronic enhancer
- Total Laparoscopic Colocolpopoiesis in a Kidney Transplant Recipient With Frasier Syndrome
- Tumors of bilateral streak gonads in patients with disorders of sex development containing y chromosome material
- Two distinct WT1 mutations identified in patients and relatives with isolated nephrotic proteinuria
- Underrecognized Frasier syndrome revisited: Paradoxical immunocomplex deposition
- Wilms Tumor Gene 1: Lessons from Kidney Development and Cancer
- Wilms' tumor gene 1: lessons from the interface between kidney development and cancer
- Wilms' tumor suppressor gene mutations in girls with sporadic isolated steroid-resistant nephrotic syndrome
- WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome
- WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review
- WT1 deletion leading to severe 46,XY gonadal dysgenesis, Wilms tumor and gonadoblastoma: case report
- WT1 microdeletion and slowly progressing focal glomerulosclerosis in a patient with male pseudohermaphroditism, childhood leukemia, Wilms tumor and cerebellar angioblastoma
- WT1 mutation as a cause of progressive nephropathy in Frasier syndrome--case report
- WT1 Pathogenic Variants are Associated with a Broad Spectrum of Differences in Sex Development Phenotypes and Heterogeneous Progression of Renal Disease
- WT1-related disorders: more than Denys-Drash syndrome