Следене
Kalman Tory
Kalman Tory
Semmelweis Egyetem, I. Gyermekklinika
Потвърден имейл адрес: med.semmelweis-univ.hu
Заглавие
Позовавания
Позовавания
Година
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
5582007
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
2362013
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
1942007
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
1692014
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
1622009
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
1572014
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
1332009
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
852013
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
392017
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
381997
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
362003
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
342018
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
322013
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
292013
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
282012
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
282004
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
272018
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
252018
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
232016
Zebrafish models of rare hereditary pediatric diseases
M Varga, D Ralbovszki, E Balogh, R Hamar, M Keszthelyi, K Tory
Diseases 6 (2), 43, 2018
202018
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Статии 1–20