Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing.
Weber, Stefanie; Büscher, Anja K; Hagmann, Henning; Liebau, Max C; Heberle, Christian; Ludwig, Michael; Rath, Sabine; Alberer, Martin; Beissert, Antje; Zenker, Martin; Hoyer, Peter F; Konrad, Martin; Klein, Hanns-Georg; Hoefele, Julia.
; 31(1): 73-81, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26248470
Genetic testing in steroid-resistant nephrotic syndrome: when and how?
Genetic mutation in Egyptian children with steroid-resistant nephrotic syndrome.
Application of next-generation sequencing technology to diagnosis and treatment of focal segmental glomerulosclerosis.
Long-term clinicopathologic observation in a case of steroid-resistant nephrotic syndrome caused by a novel Crumbs homolog 2 mutation.
Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome: a case report.
<i>MAGI2</i> Mutations Cause Congenital Nephrotic Syndrome.
Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis.
Report of novel genetic variation in NPHS2 gene associated with idiopathic nephrotic syndrome in South Indian children.
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Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.