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Page 1
C-terminal oligomerization of podocin mediates interallelic interactions.
Stráner P, Balogh E, Schay G, Arrondel C, Mikó Á, L'Auné G, Benmerah A, Perczel A, K Menyhárd D, Antignac C, Mollet G, Tory K. Stráner P, et al. Among authors: k menyhard d, tory k. Biochim Biophys Acta Mol Basis Dis. 2018 Jul;1864(7):2448-2457. doi: 10.1016/j.bbadis.2018.04.008. Epub 2018 Apr 13. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 29660491 Free article.
High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.
Tory K, Lacoste T, Burglen L, Morinière V, Boddaert N, Macher MA, Llanas B, Nivet H, Bensman A, Niaudet P, Antignac C, Salomon R, Saunier S. Tory K, et al. J Am Soc Nephrol. 2007 May;18(5):1566-75. doi: 10.1681/ASN.2006101164. Epub 2007 Apr 4. J Am Soc Nephrol. 2007. PMID: 17409309
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.
Tory K, Rousset-Rouvière C, Gubler MC, Morinière V, Pawtowski A, Becker C, Guyot C, Gié S, Frishberg Y, Nivet H, Deschênes G, Cochat P, Gagnadoux MF, Saunier S, Antignac C, Salomon R. Tory K, et al. Kidney Int. 2009 Apr;75(8):839-47. doi: 10.1038/ki.2008.662. Epub 2009 Jan 28. Kidney Int. 2009. PMID: 19177160 Free article.
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
Kerti A, Csohány R, Szabó A, Arkossy O, Sallay P, Moriniére V, Vega-Warner V, Nyírő G, Lakatos O, Szabó T, Lipska BS, Schaefer F, Antignac C, Reusz G, Tulassay T, Tory K. Kerti A, et al. Among authors: tory k. Pediatr Nephrol. 2013 May;28(5):751-7. doi: 10.1007/s00467-012-2379-2. Epub 2012 Dec 14. Pediatr Nephrol. 2013. PMID: 23242530
Zebrafish Models of Rare Hereditary Pediatric Diseases.
Varga M, Ralbovszki D, Balogh E, Hamar R, Keszthelyi M, Tory K. Varga M, et al. Among authors: tory k. Diseases. 2018 May 22;6(2):43. doi: 10.3390/diseases6020043. Diseases. 2018. PMID: 29789451 Free PMC article. Review.
Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.
Szabó T, Orosz P, Balogh E, Jávorszky E, Máttyus I, Bereczki C, Maróti Z, Kalmár T, Szabó AJ, Reusz G, Várkonyi I, Marián E, Gombos É, Orosz O, Madar L, Balla G, Kappelmayer J, Tory K, Balogh I. Szabó T, et al. Among authors: tory k. Pediatr Nephrol. 2018 Oct;33(10):1713-1721. doi: 10.1007/s00467-018-3992-5. Epub 2018 Jun 28. Pediatr Nephrol. 2018. PMID: 29956005
110 results