The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome M Delous, L Baala, R Salomon, C Laclef, J Vierkotten, K Tory, C Golzio, ... Nature genetics 39 (7), 875-881, 2007 | 558 | 2007 |
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans J Halbritter, AA Bizet, M Schmidts, JD Porath, DA Braun, HY Gee, ... The American Journal of Human Genetics 93 (5), 915-925, 2013 | 236 | 2013 |
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 … T Lacoste, L Burglen, V Morinie, N Boddaert, MA Macher, B Llanas, ... Journal of the American Society of Nephrology 18 (5), 1566-1575, 2007 | 194 | 2007 |
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome K Tory, DK Menyhárd, S Woerner, F Nevo, O Gribouval, A Kerti, P Stráner, ... Nature genetics 46 (3), 299-304, 2014 | 169 | 2014 |
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11) EA Otto, K Tory, M Attanasio, W Zhou, M Chaki, Y Paruchuri, EL Wise, ... Journal of medical genetics 46 (10), 663-670, 2009 | 162 | 2009 |
Genotype–phenotype associations in WT1 glomerulopathy BS Lipska, B Ranchin, P Iatropoulos, J Gellermann, A Melk, F Ozaltin, ... Kidney international 85 (5), 1169-1178, 2014 | 157 | 2014 |
Mutations of NPHP2 and NPHP3 in infantile nephronophthisis K Tory, C Rousset-Rouviere, MC Gubler, V Moriniere, A Pawtowski, ... Kidney international 75 (8), 839-847, 2009 | 133 | 2009 |
Cardiovascular risk assessment in children with chronic kidney disease R Shroff, A Dégi, A Kerti, É Kis, O Cseprekál, K Tory, AJ Szabó, GS Reusz Pediatric nephrology 28, 875-884, 2013 | 85 | 2013 |
Selective measurement of α smooth muscle actin: why β-actin can not be used as a housekeeping gene when tissue fibrosis occurs A Veres-Székely, D Pap, E Sziksz, E Jávorszky, R Rokonay, R Lippai, ... BMC molecular biology 18, 1-15, 2017 | 39 | 2017 |
Intracellular calcium release is more efficient than calcium influx in stimulating mitochondrial NAD (P) H formation in adrenal glomerulosa cells T Rohács, K Tory, A Dobos, A Spät Biochemical Journal 328 (2), 525-528, 1997 | 38 | 1997 |
Autonomic dysfunction in uremia assessed by heart rate variability K Tory, Z Süveges, E Horváth, É Bokor, P Sallay, K Berta, A Szabó, ... Pediatric Nephrology 18, 1167-1171, 2003 | 36 | 2003 |
Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies T Szabó, P Orosz, E Balogh, E Jávorszky, I Máttyus, C Bereczki, Z Maróti, ... Pediatric Nephrology 33, 1713-1721, 2018 | 34 | 2018 |
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome A Kerti, R Csohány, A Szabó, O Árkossy, P Sallay, V Moriniére, ... Pediatric nephrology 28, 751-757, 2013 | 32 | 2013 |
NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis A Kerti, R Csohány, L Wagner, E Jávorszky, E Maka, K Tory Pediatric nephrology 28, 2061-2064, 2013 | 29 | 2013 |
Cardiovascular risk assessment in children following kidney transplantation A Dégi, A Kerti, É Kis, O Cseprekál, K Tory, AJ Szabó, GS Reusz Pediatric transplantation 16 (6), 564-576, 2012 | 28 | 2012 |
Effect of propranolol on heart rate variability in patients with end-stage renal disease: a double-blind, placebo-controlled, randomized crossover pilot trial. K Tory, E Horvath, Z Süveges, A Fekete, P Sallay, K Berta, T Szabó, ... Clinical nephrology 61 (5), 316-323, 2004 | 28 | 2004 |
C-terminal oligomerization of podocin mediates interallelic interactions P Stráner, E Balogh, G Schay, C Arrondel, Á Mikó, G L'auné, A Benmerah, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1864 (7 …, 2018 | 27 | 2018 |
The mutation‐dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment Á Mikó, D K. Menyhárd, A Kaposi, C Antignac, K Tory Human Mutation 39 (12), 1854-1860, 2018 | 25 | 2018 |
Antignac С. Idiopathic Nephrotic Syndrome in Children: Genetic Aspects TK Boyer О, E Machuca Pediatric Nephrology. Eds: Avner ED, Harmon WE, Niaudet P, Yoshikawa N, Emma …, 2016 | 23 | 2016 |
Zebrafish models of rare hereditary pediatric diseases M Varga, D Ralbovszki, E Balogh, R Hamar, M Keszthelyi, K Tory Diseases 6 (2), 43, 2018 | 20 | 2018 |