Vyzkoušejte nový nástroj s podporou AI
Summon Research Assistant
BETA
The mutation‐dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment
Mikó, Ágnes, K. Menyhárd, Dóra, Kaposi, Ambrus, Antignac, Corinne, Tory, Kálmán
Published in Human mutation (01.12.2018)
Published in Human mutation (01.12.2018)
Get full text
Journal Article
The MEC-2E isoform with a large C-terminal completely rescues the touch sensation defect of C. elegans
Keszthelyi, Tália Magdolna, Légrádi, Regina, Pálya, Dóra, Köles, Tímea, Regős, Ágnes, Karancsiné Menyhárd, Dóra, Tory, Kálmán
Published in Scientific reports (22.07.2025)
Published in Scientific reports (22.07.2025)
Get full text
Journal Article
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome
Tory, Kálmán, Menyhárd, Dóra K, Woerner, Stéphanie, Nevo, Fabien, Gribouval, Olivier, Kerti, Andrea, Stráner, Pál, Arrondel, Christelle, Cong, Evelyne Huynh, Tulassay, Tivadar, Mollet, Géraldine, Perczel, András, Antignac, Corinne
Published in Nature genetics (01.03.2014)
Published in Nature genetics (01.03.2014)
Get full text
Journal Article
EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome
Vojcek, Eszter, Keszthelyi, Tália Magdolna, Jávorszky, Eszter, Balogh, Lídia, Tory, Kálmán
Published in Annals of human genetics (01.01.2020)
Published in Annals of human genetics (01.01.2020)
Get full text
Journal Article
Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies
Szabó, Tamás, Orosz, Petronella, Balogh, Eszter, Jávorszky, Eszter, Máttyus, István, Bereczki, Csaba, Maróti, Zoltán, Kalmár, Tibor, Szabó, Attila J, Reusz, George, Várkonyi, Ildikó, Marián, Erzsébet, Gombos, Éva, Orosz, Orsolya, Madar, László, Balla, György, Kappelmayer, János, Tory, Kálmán, Balogh, István
Published in Pediatric nephrology (Berlin, West) (01.10.2018)
Published in Pediatric nephrology (Berlin, West) (01.10.2018)
Get full text
Journal Article
The sub‐basal nerve plexus and central corneal stromal microstructure in subjects with congenital aniridia, using in vivo confocal microscopy
Szentmáry, Nóra, Csorba, Anita, Kormányos, Kitti, Csidey, Mária, Náray, Annamária, Kéki‐Kovács, Klaudia, Németh, Orsolya, Knézy, Krisztina, Bausz, Mária, Szigeti, Andrea, Szabó, Dorottya, Corton, Marta, Tory, Kálmán, Nagy, Zoltán Zsolt, Langenbucher, Achim, Maka, Erika
Published in Acta ophthalmologica (Oxford, England) (01.01.2024)
Published in Acta ophthalmologica (Oxford, England) (01.01.2024)
Get full text
Journal Article
Genetic background of congenital aniridia
Damian, Alejandra, Blanco‐Kelly, Fiona, Tamayo, Alejandra, Swafiri, Saoud T., Villaverde, Cristina, Ruiz‐Sánchez, Carolina, Tory, Kálmán, Szentmáry, Nóra, Ayuso, Carmen, Corton, Marta
Published in Acta ophthalmologica (Oxford, England) (01.01.2024)
Published in Acta ophthalmologica (Oxford, England) (01.01.2024)
Get full text
Journal Article
A molecular mechanism explaining albuminuria in kidney disease
Butt, Linus, Unnersjö-Jess, David, Höhne, Martin, Edwards, Aurelie, Binz-Lotter, Julia, Reilly, Dervla, Hahnfeldt, Robert, Ziegler, Vera, Fremter, Katharina, Rinschen, Markus M, Helmstädter, Martin, Ebert, Lena K, Castrop, Hayo, Hackl, Matthias J, Walz, Gerd, Brinkkoetter, Paul T, Liebau, Max C, Tory, Kálmán, Hoyer, Peter F, Beck, Bodo B, Brismar, Hjalmar, Blom, Hans, Schermer, Bernhard, Benzing, Thomas
Published in Nature metabolism (01.05.2020)
Published in Nature metabolism (01.05.2020)
Get full text
Journal Article
Reassuring pregnancy outcomes in women with mild COL4A3-5–related disease (Alport syndrome) and genetic type of disease can aid personalized counseling
Gosselink, Margriet E., Snoek, Rozemarijn, Cerkauskaite-Kerpauskiene, Agne, van Bakel, Sophie P.J., Vollenberg, Renee, Groen, Henk, Cerkauskiene, Rimante, Miglinas, Marius, Attini, Rossella, Tory, Kálmán, Claes, Kathleen J., van Calsteren, Kristel, Servais, Aude, de Jong, Margriet F.C., Gillion, Valentine, Vogt, Liffert, Mastrangelo, Antonio, Furlano, Monica, Torra, Roser, Bramham, Kate, Wiles, Kate, Ralston, Elizabeth R., Hall, Matthew, Liu, Lisa, Hladunewich, Michelle A., Lely, A. Titia, van Eerde, Albertien M.
Published in Kidney international (01.05.2024)
Published in Kidney international (01.05.2024)
Get full text
Journal Article
Examination of Subbasal Nerve Plexus and Central Corneal Stromal Microstructure in Subjects With Congenital Aniridia, Using in Vivo Confocal Laser Scanning Microscopy
Csorba, Anita, Kormányos, Kitti, Csidey, Mária, Náray, Annamária, Kovács, Klaudia, Németh, Orsolya, Knézy, Krisztina, Bausz, Mária, Szigeti, Andrea, Szabó, Dorottya, Corton, Marta, Tory, Kálmán, Nagy, Zoltán Zsolt, Langenbucher, Achim, Maka, Erika, Szentmáry, Nóra
Published in Current eye research (02.06.2024)
Published in Current eye research (02.06.2024)
Get full text
Journal Article
QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions
Jávorszky, Eszter, Morinière, Vincent, Kerti, Andrea, Balogh, Eszter, Pikó, Henriett, Saunier, Sophie, Karcagi, Veronika, Antignac, Corinne, Tory, Kálmán
Published in Clinical chemistry and laboratory medicine (01.06.2017)
Published in Clinical chemistry and laboratory medicine (01.06.2017)
Get full text
Journal Article
Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations
Hall, Jonathan, Corton, Marta, Fries, Fabian Norbert, Obst, Jessica, Grünauer-Kloevekorn, Clara, Seitz, Berthold, Waizel, Maria della Volpe, Jávorszky, Eszter, Tory, Kálmán, Maka, Erika, Amini, Maryam, Suiwal, Shweta, Stachon, Tanja, Szentmáry, Nóra
Published in Ophthalmology and therapy (01.05.2025)
Published in Ophthalmology and therapy (01.05.2025)
Get full text
Journal Article
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis
Tory, Kálmán, Rousset-Rouvière, Caroline, Gubler, Marie-Claire, Morinière, Vincent, Pawtowski, Audrey, Becker, Céline, Guyot, Claude, Gié, Sophie, Frishberg, Yaacov, Nivet, Hubert, Deschênes, Georges, Cochat, Pierre, Gagnadoux, Marie-France, Saunier, Sophie, Antignac, Corinne, Salomon, Rémi
Published in Kidney international (01.04.2009)
Published in Kidney international (01.04.2009)
Get full text
Journal Article
Multicenter Long-Term Real World Data on Treatment With Lumasiran in Patients With Primary Hyperoxaluria Type 1
Martin-Higueras, Cristina, Borghese, Lodovica, Torres, Armando, Fraga-Bilbao, Fátima, Santana-Estupiñán, Raquel, Stefanidis, Constantinos J., Tory, Kálmán, Walli, Adam, Gondra, Leire, Kempf, Caroline, Gessner, Michaela, Habbig, Sandra, Eifler, Lisa, Schmitt, Claus P., Rüdel, Benjamin, Bartram, Malte P., Beck, Bodo B., Hoppe, Bernd
Published in Kidney international reports (01.01.2024)
Published in Kidney international reports (01.01.2024)
Get full text
Journal Article
C-terminal oligomerization of podocin mediates interallelic interactions
Stráner, Pál, Balogh, Eszter, Schay, Gusztáv, Arrondel, Christelle, Mikó, Ágnes, L'Auné, Gerda, Benmerah, Alexandre, Perczel, András, K. Menyhárd, Dóra, Antignac, Corinne, Mollet, Géraldine, Tory, Kálmán
Published in Biochimica et biophysica acta (01.07.2018)
Published in Biochimica et biophysica acta (01.07.2018)
Get full text
Journal 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, Ka[Combining Acute Accent]lma[Combining Acute Accent]n, Lacoste, Tiphanie, Burglen, Lydie, Morinie[Combining Grave Accent]re, Vincent, Boddaert, Nathalie, Macher, Marie-Alice, Llanas, Brigitte, Nivet, Hubert, Bensman, Albert, Niaudet, Patrick, Antignac, Corinne, Salomon, Re[Combining Acute Accent]mi, Saunier, Sophie
Published in Journal of the American Society of Nephrology (01.05.2007)
Published in Journal of the American Society of Nephrology (01.05.2007)
Get full text
Journal Article