tallózása szerző szerint "Lipska BS"

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  • Genotype-phenotype associations in WT1 glomerulopathy 
    Lipska BS; Ranchin B; Iatropoulos P; Gellermann J; Melk A; Ozaltin F; Caridi G; Seeman T; Tory, Kálmán; Jankauskiene A; Zurowska A; Szczepanska M; Wasilewska A; Harambat J; Trautmann A; Peco-Antic A; Borzecka H; Moczulska A; Saeed B; Bogdanovic R; Kalyoncu M; Simkova E; Erdogan O; Vrljicak K; Teixeira A; Azocar M; Schaefer F; PodoNet Consortium (2014)
    WT1 mutations cause a wide spectrum of renal and extrarenal manifestations. Here we evaluated disease prevalence, phenotype spectrum, and genotype-phenotype correlations of 61 patients with WT1-related steroid-resistant ...
  • NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome. 
    Kerti, Andrea; Csohány, Rózsa; Szabó, Attila; Arkossy O; Sallay, Péter; Moriniere V; Vega-Warner V; Nyírő, Gábor; Lakatos, Orsolya Judit; Szabó, Tamás; Lipska BS; Schaefer F; Antignac C; Reusz, György; Tulassay, Tivadar; Tory, Kálmán (2013)
    BACKGROUND: The most frequently mutated gene of steroid- resistant nephrotic syndrome (SRNS) is NPHS2. Current guidelines propose the sequencing of all NPHS2 exons only in childhood- onset SRNS. METHODS: A cohort of ...