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Page 1
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Petzold F, Billot K, Chen X, Henry C, Filhol E, Martin Y, Avramescu M, Douillet M, Morinière V, Krug P, Jeanpierre C, Tory K, Boyer O, Burgun A, Servais A, Salomon R, Benmerah A, Heidet L, Garcelon N, Antignac C, Zaidan M, Saunier S; INSERM–Necker Hospital NPH collaborative group. Petzold F, et al. Among authors: tory k. Kidney Int. 2023 Aug;104(2):378-387. doi: 10.1016/j.kint.2023.05.007. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230223 Free article.
Reassuring pregnancy outcomes in women with mild COL4A3-5-related disease (Alport syndrome) and genetic type of disease can aid personalized counseling.
Gosselink ME, Snoek R, Cerkauskaite-Kerpauskiene A, van Bakel SPJ, Vollenberg R, Groen H, Cerkauskiene R, Miglinas M, Attini R, Tory K, Claes KJ, van Calsteren K, Servais A, de Jong MFC, Gillion V, Vogt L, Mastrangelo A, Furlano M, Torra R, Bramham K, Wiles K, Ralston ER, Hall M, Liu L, Hladunewich MA, Lely AT, van Eerde AM; ALPART working group. Gosselink ME, et al. Among authors: tory k. Kidney Int. 2024 May;105(5):1088-1099. doi: 10.1016/j.kint.2024.01.034. Epub 2024 Feb 19. Kidney Int. 2024. PMID: 38382843 Free article.
Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence.
Kachmar J, Boyer O, Lipska-Ziętkiewicz B, Morinière V, Gribouval O, Heidet L, Balasz-Chmielewska I, Benetti E, Cloarec S, Csaicsich D, Decramer S, Gellermann J, Guigonis V, Hogan J, Bayazit AK, Melk A, Nigmatullina N, Oh J, Ozaltin F, Ranchin B, Tsimaratos M, Trautmann A, Antignac C, Schaefer F, Dorval G; PodoNet Network. Kachmar J, et al. Kidney Int Rep. 2024 Jan 10;9(4):973-981. doi: 10.1016/j.ekir.2024.01.005. eCollection 2024 Apr. Kidney Int Rep. 2024. PMID: 38765578 Free PMC article.
Multicenter Long-Term Real World Data on Treatment With Lumasiran in Patients With Primary Hyperoxaluria Type 1.
Martin-Higueras C, Borghese L, Torres A, Fraga-Bilbao F, Santana-Estupiñán R, Stefanidis CJ, Tory K, Walli A, Gondra L, Kempf C, Gessner M, Habbig S, Eifler L, Schmitt CP, Rüdel B, Bartram MP, Beck BB, Hoppe B. Martin-Higueras C, et al. Among authors: tory k. Kidney Int Rep. 2023 Oct 6;9(1):114-133. doi: 10.1016/j.ekir.2023.10.004. eCollection 2024 Jan. Kidney Int Rep. 2023. PMID: 38312792 Free PMC article.
Examination of Subbasal Nerve Plexus and Central Corneal Stromal Microstructure in Subjects With Congenital Aniridia, Using in Vivo Confocal Laser Scanning Microscopy.
Csorba A, Kormányos K, Csidey M, Náray A, Kovács K, Németh O, Knézy K, Bausz M, Szigeti A, Szabó D, Corton M, Tory K, Nagy ZZ, Langenbucher A, Maka E, Szentmáry N. Csorba A, et al. Among authors: tory k. Curr Eye Res. 2024 Jun;49(6):582-590. doi: 10.1080/02713683.2024.2320779. Epub 2024 Mar 5. Curr Eye Res. 2024. PMID: 38444179
[Congenital aniridia patients' experience on their visual impairment in Hungary.].
Csidey M, Grupcheva C, Stachon T, Hecker D, Náray A, Kéki-Kovács K, Németh O, Knézy K, Bausz M, Szigeti A, Csorba A, Kormányos K, Szabó D, Corton M, Tory K, Nagy ZZ, Lagali N, Maka E, Szentmáry N. Csidey M, et al. Among authors: tory k. Orv Hetil. 2023 Aug 27;164(34):1342-1349. doi: 10.1556/650.2023.32845. Print 2023 Aug 27. Orv Hetil. 2023. PMID: 37634154 Free article. Hungarian.
[Staging of aniridia-associated keratopathy].
Náray A, Fries FN, Csidey M, Kéki-Kovács K, Németh O, Knézy K, Bausz M, Szigeti A, Csorba A, Kormányos K, Szabó D, Corton M, Tory K, Nagy ZZ, Maka E, Szentmáry N. Náray A, et al. Among authors: tory k. Orv Hetil. 2023 Jul 9;164(27):1063-1069. doi: 10.1556/650.2023.32803. Print 2023 Jul 9. Orv Hetil. 2023. PMID: 37422887 Hungarian.
106 results