Folyóiratcikkek tallózása szerző szerint "Antignac C"

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  • Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome 
    Tory, Kálmán; Karancsiné Menyhárd, Dóra; Woerner S; Nevo F; Gribouval O; Kerti, Andrea; Straner P; Arrondel C; Cong EH; Tulassay, Tivadar; Mollet G; Perczel, András; Antignac C (2014)
    Monogenic disorders result from defects in a single gene. According to Mendel's laws, these disorders are inherited in either a recessive or dominant fashion. Autosomal-recessive disorders require a disease-causing variant ...
  • 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 ...
  • QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions 
    Jávorszky, Eszter; Moriniere V; Kerti, Andrea; Balogh, Eszter; Piko H; Saunier S; Karcagi V; Antignac C; Tory, Kálmán (2017)
    BACKGROUND: Nephronophthisis, an autosomal recessive nephropathy, is responsible for 10% of childhood chronic renal failure. The deletion of its major gene, NPHP1, with a minor allele frequency of 0.24% in the general ...