Publications by authors named "Kalman Tory"

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Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies.
Susan M McAnallen, Elhussein A E Elhassan, Sinead Stoneman, Filippo Pinto E Vairo, Marie C Hogan, Tory Kálmán

Nephrol Dial Transplant· December 2025

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Applicability of Electroretinography Measurements in Congenital PAX6-Related Aniridia.
Ditta Zobor, Krisztina Knézy, Barbara Besztercei, Andrea Szigeti, Mária Csidey, Kálmán Tory

Invest Ophthalmol Vis Sci· November 2025

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Efficacy of Calcineurin Inhibition in Children With Steroid-Resistant Nephrotic Syndrome.
Agnes Trautmann, Jonas Hofstetter, Beata Lipska-Ziętkiewicz, Alexey Tsygin, Iwona Ogarek, Kalman Tory

Kidney Int Rep· October 2025

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The MEC-2E isoform with a large C-terminal completely rescues the touch sensation defect of C. elegans.
Tália Magdolna Keszthelyi, Regina Légrádi, Dóra Pálya, Tímea Köles, Ágnes Regős, Kálmán Tory

Sci Rep· July 2025

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Survey of legislative frameworks and national recommendations governing paediatric maintenance haemodialysis in Europe.
Enzo Vedrine, Claus Peter Schmitt, Johan Vande Walle, Diamant Shtiza, Klaus Arbeiter, Kalman Tory

Pediatr Nephrol· June 2025

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Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations.
Jonathan Hall, Marta Corton, Fabian Norbert Fries, Jessica Obst, Clara Grünauer-Kloevekorn, Kálmán Tory

Ophthalmol Ther· May 2025

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Examination of the Corneal Endothelium in Patients With Congenital Aniridia With a PAX6 Mutation Using In Vivo Confocal Laser Scanning Microscopy.
Mária Csidey, Anita Csorba, Kitti Kormányos, Annamária Náray, Klaudia Kéki-Kovács, Kálmán Tory

Cornea· March 2025

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[Visceral perforations in a child with Ehlers-Danlos syndrome type IV].
Csilla Nagy, Eszter Jávorszky, Violetta Antal-Kónya, Tímea Köles, Imre Kiss, Kálmán Tory

Orv Hetil· January 2025

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The dominant findings of a recessive man: from Mendel's kid pea to kidney.
Kálmán Tory

Pediatr Nephrol· July 2024

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[Salt fever].
Kálmán Tory, Regina Légrádi, Zaránd Némethi, Judit Kincs, György Reusz

Orv Hetil· July 2024

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Examination of Subbasal Nerve Plexus and Central Corneal Stromal Microstructure in Subjects With Congenital Aniridia, Using Confocal Laser Scanning Microscopy.
Anita Csorba, Kitti Kormányos, Mária Csidey, Annamária Náray, Klaudia Kovács, Kálmán Tory

Curr Eye Res· June 2024

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Reassuring pregnancy outcomes in women with mild COL4A3-5-related disease (Alport syndrome) and genetic type of disease can aid personalized counseling.
Margriet E Gosselink, Rozemarijn Snoek, Agne Cerkauskaite-Kerpauskiene, Sophie P J van Bakel, Renee Vollenberg, Kálmán Tory

Kidney Int· May 2024

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Throwing off the keratin chains: a potential therapy for hereditary podocytopathy.
Kálmán Tory

Kidney Int· April 2024

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Multicenter Long-Term Real World Data on Treatment With Lumasiran in Patients With Primary Hyperoxaluria Type 1.
Cristina Martin-Higueras, Lodovica Borghese, Armando Torres, Fátima Fraga-Bilbao, Raquel Santana-Estupiñán, Kálmán Tory

Kidney Int Rep· January 2024

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The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Friederike Petzold, Katy Billot, Xiaoyi Chen, Charline Henry, Emilie Filhol, Kalman Tory

Kidney Int· August 2023

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[Congenital aniridia patients' experience on their visual impairment in Hungary.].
Mária Csidey, Christina Grupcheva, Tanja Stachon, Dietmar Hecker, Annamária Náray, Kálmán Tory

Orv Hetil· August 2023

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[Staging of aniridia-associated keratopathy].
Annamária Náray, Fabian Norbert Fries, Mária Csidey, Klaudia Kéki-Kovács, Orsolya Németh, Kálmán Tory

Orv Hetil· July 2023

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The importance of pseudouridylation: human disorders related to the fifth nucleoside.
Tália Magdolna Keszthelyi, Kálmán Tory

Biol Futur· June 2023

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[Congenital aniridia - Hungarian data of a spectrum disease].
Annamária Náray, Mária Csidey, Klaudia Kéki-Kovács, Orsolya Németh, Krisztina Knézy, Kálmán Tory

Orv Hetil· January 2023

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The pathogenic c.1171A>G (p.Arg391Gly) and c.2359G>A (p.Val787Ile) ABCC6 variants display incomplete penetrance causing pseudoxanthoma elasticum in a subset of individuals.
Flora Szeri, Agnes Miko, Nastassia Navasiolava, Ambrus Kaposi, Shana Verschuere, Kalman Tory

Hum Mutat· December 2022

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[Arthrogryposis–renal dysfunction–cholestasis syndrome].
Ágnes Mikó, Szendile Lóth, Judit Müller, Bence Lotz, Patrizio Rossitto, Kálmán Tory

Orv Hetil· January 2022

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Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach.
Ágnes Mikó, Ambrus Kaposi, Karolina Schnabel, Dániel Seidl, Kálmán Tory

Hum Mutat· November 2021

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[Diagnosis and treatment of paediatric multisystem inflammatory syndrome].
Tamás Constantin, Noémi Andrási, Andrea Ponyi, Ádám Goschler, László Ablonczy, Kálmán Tory

Orv Hetil· April 2021

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An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Martina Živná, Kendrah Kidd, Mohamad Zaidan, Petr Vyleťal, Veronika Barešová, Kálmán Tory

Kidney Int· December 2020

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Clinical and genetic findings in Hungarian pediatric patients carrying chromosome 16p copy number variants and a review of the literature.
Anna Lengyel, Éva Pinti, Henriett Pikó, Eszter Jávorszky, Dezső David, Kálmán Tory

Eur J Med Genet· October 2020

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