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Year Number of Results
1986 1
1989 1
1990 3
1991 13
1992 3
1993 12
1994 7
1995 1
1997 2
1998 2
1999 3
2000 1
2001 2
2002 1
2003 2
2004 3
2007 2
2008 1
2009 3
2010 1
2012 5
2013 6
2014 4
2017 2
2018 6
2019 2
2020 5
2021 2
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2023 7
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2025 9

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117 results

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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.
Diagnosis, management and treatment of the Alport syndrome - 2024 guideline on behalf of ERKNet, ERA and ESPN.
Torra R, Lipska-Zietkiewicz B, Acke F, Antignac C, Becker JU, Cornec-Le Gall E, van Eerde AM, Feltgen N, Ferrari R, Gale DP, Gear S, Gross O, Haeberle S, Heidet L, Lennon R, Massella L, Pfau K, Pizarro MDPV, Topaloglu R, Wlodkowski T, Zealey H; ERKNet, ERA Genes&Kidney and ESPN Inherited renal disorders working group. Torra R, et al. Nephrol Dial Transplant. 2025 May 30;40(6):1091-1106. doi: 10.1093/ndt/gfae265. Nephrol Dial Transplant. 2025. PMID: 39673454 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.
[Arthrogryposis–renal dysfunction–cholestasis syndrome].
Mikó Á, Lóth S, Müller J, Lotz B, Rossitto P, Szabolcs A, Benyó G, Jávorszky E, Tory K, Dezsőfi A. Mikó Á, et al. Among authors: tory k. Orv Hetil. 2022 Jan 9;163(2):74-78. doi: 10.1556/650.2022.32312. Print 2022 Jan 9. Orv Hetil. 2022. PMID: 34999573 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.
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.
Real-world use of complement inhibitors for haemolytic uraemic syndrome: an analysis of the European Rare Kidney Disease Registry cohort.
Vujović A, Sellier-Leclerc AL, Mancuso MC, Boyer O, Awan A, Gargiulo A, Loos S, Fila M, Jankauskiene A, Ariceta G, Kanzelmeyer N, Vidal E, Van Dyck M, Levart TK, Šimánková N, Decramer S, Hofstetter J, Vivarelli M, Sciascia S, van de Kar NCAJ, Schaefer F; ERKNet TMA Working Group. Vujović A, et al. EClinicalMedicine. 2025 Mar 27;82:103159. doi: 10.1016/j.eclinm.2025.103159. eCollection 2025 Apr. EClinicalMedicine. 2025. PMID: 40224677 Free PMC article.
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.
Hereditary papillary renal cell carcinoma.
Zbar B, Tory K, Merino M, Schmidt L, Glenn G, Choyke P, Walther MM, Lerman M, Linehan WM. Zbar B, et al. Among authors: tory k. J Urol. 1994 Mar;151(3):561-6. doi: 10.1016/s0022-5347(17)35015-2. J Urol. 1994. PMID: 8308957 Review.
Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations.
Hall J, Corton M, Fries FN, Obst J, Grünauer-Kloevekorn C, Seitz B, Waizel MDV, Jávorszky E, Tory K, Maka E, Amini M, Suiwal S, Stachon T, Szentmáry N. Hall J, et al. Among authors: tory k. Ophthalmol Ther. 2025 May;14(5):835-856. doi: 10.1007/s40123-025-01122-1. Epub 2025 Mar 26. Ophthalmol Ther. 2025. PMID: 40138169 Free PMC article. Review.
117 results