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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.
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.
Buffin-Meyer B, Richard J, Guigonis V, Weber S, König J, Heidet L, Moussaoui N, Vu JP, Faguer S, Casemayou A, Prakash R, Baudouin V, Hogan J, Alexandrou D, Bockenhauer D, Bacchetta J, Ranchin B, Pruhova S, Zieg J, Lahoche A, Okorn C, Antal-Kónya V, Morin D, Becherucci F, Habbig S, Liebau MC, Mauras M, Nijenhuis T, Llanas B, Mekahli D, Thumfart J, Tönshoff B, Massella L, Eckart P, Cloarec S, Cruz A, Patzer L, Roussey G, Vrillon I, Dunand O, Bessenay L, Taroni F, Zaniew M, Louillet F, Bergmann C, Schaefer F, van Eerde AM, Schanstra JP, Decramer S; HNF1B variant study group. Buffin-Meyer B, et al. Kidney Int Rep. 2024 May 16;9(8):2514-2526. doi: 10.1016/j.ekir.2024.05.007. eCollection 2024 Aug. Kidney Int Rep. 2024. PMID: 39156164 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.
[Salt fever].
Tory K, Légrádi R, Némethi Z, Kincs J, Reusz G, Tulassay T. Tory K, et al. Orv Hetil. 2024 Jul 21;165(29):1107-1111. doi: 10.1556/650.2024.33086. Print 2024 Jul 21. Orv Hetil. 2024. PMID: 39033494 Hungarian.
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.
108 results