Associated Papers
Genetics of congenital and infantile nephrotic syndrome.
Sharief SN et al.
World Journal of Pediatrics : Wjp, 2019
Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.
Sen ES et al.
Journal of Medical Genetics, 2017
28780565 (PubMed )
Supplement: jmedgenet-2017-104811supp002.docx
Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome.
Hillen LM et al.
Fetal and Pediatric Pathology, 2016
Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.
Cil O et al.
Pediatric Nephrology (berlin, Germany), 2015
Discordant expression of a new WT1 gene mutation in a family with monozygotic twins presenting with congenital nephrotic syndrome.
Fencl F et al.
European Journal of Pediatrics, 2012
Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients.
Ovunc B et al.
Nephron. Clinical Practice, 2012
Denys-Drash syndrome with neonatal renal failure in monozygotic twins due to c.1097G>A mutation in the WT1 gene.
Furtado LV et al.
Fetal and Pediatric Pathology, 2011
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