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Items: 1 to 50 of 87

1.

EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome.

Vojcek E, Keszthelyi TM, Jávorszky E, Balogh L, Tory K.

Ann Hum Genet. 2019 Jun 11. doi: 10.1111/ahg.12337. [Epub ahead of print]

PMID:
31184778
2.

Critical Considerations in Genetic Counseling of Patients With the NPHS2 R229Q Variant.

Tory K.

Am J Kidney Dis. 2019 Apr;73(4):576. doi: 10.1053/j.ajkd.2018.11.013. Epub 2019 Feb 15. No abstract available.

PMID:
30777632
3.

[Trisomy 9p and clinical heterogeneity: case report of an unusual presentation].

Lengyel A, Kosik A, Pinti É, Lódi C, Tory K, Fekete G, Haltrich I.

Orv Hetil. 2018 Nov;159(47):1994-2000. doi: 10.1556/650.2018.31223. Hungarian.

PMID:
30474384
4.

The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment.

Mikó Á, K Menyhárd D, Kaposi A, Antignac C, Tory K.

Hum Mutat. 2018 Dec;39(12):1854-1860. doi: 10.1002/humu.23660. Epub 2018 Oct 22.

PMID:
30260545
5.

Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.

Szabó T, Orosz P, Balogh E, Jávorszky E, Máttyus I, Bereczki C, Maróti Z, Kalmár T, Szabó AJ, Reusz G, Várkonyi I, Marián E, Gombos É, Orosz O, Madar L, Balla G, Kappelmayer J, Tory K, Balogh I.

Pediatr Nephrol. 2018 Oct;33(10):1713-1721. doi: 10.1007/s00467-018-3992-5. Epub 2018 Jun 28.

PMID:
29956005
6.

Zebrafish Models of Rare Hereditary Pediatric Diseases.

Varga M, Ralbovszki D, Balogh E, Hamar R, Keszthelyi M, Tory K.

Diseases. 2018 May 22;6(2). pii: E43. doi: 10.3390/diseases6020043. Review.

7.

C-terminal oligomerization of podocin mediates interallelic interactions.

Stráner P, Balogh E, Schay G, Arrondel C, Mikó Á, L'Auné G, Benmerah A, Perczel A, K Menyhárd D, Antignac C, Mollet G, Tory K.

Biochim Biophys Acta Mol Basis Dis. 2018 Jul;1864(7):2448-2457. doi: 10.1016/j.bbadis.2018.04.008. Epub 2018 Apr 13.

8.

Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.

Serrano-Perez MC, Tilley FC, Nevo F, Arrondel C, Sbissa S, Martin G, Tory K, Antignac C, Mollet G.

J Biol Chem. 2018 Mar 16;293(11):4122-4133. doi: 10.1074/jbc.RA117.001159. Epub 2018 Jan 30.

9.

Selective measurement of α smooth muscle actin: why β-actin can not be used as a housekeeping gene when tissue fibrosis occurs.

Veres-Székely A, Pap D, Sziksz E, Jávorszky E, Rokonay R, Lippai R, Tory K, Fekete A, Tulassay T, Szabó AJ, Vannay Á.

BMC Mol Biol. 2017 Apr 27;18(1):12. doi: 10.1186/s12867-017-0089-9.

10.

QMPSF is sensitive and specific in the detection of NPHP1 heterozygous deletions.

Jávorszky E, Morinière V, Kerti A, Balogh E, Pikó H, Saunier S, Karcagi V, Antignac C, Tory K.

Clin Chem Lab Med. 2017 May 1;55(6):809-816. doi: 10.1515/cclm-2016-0819.

PMID:
28002029
11.

Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.

Tory K, Menyhárd DK, Woerner S, Nevo F, Gribouval O, Kerti A, Stráner P, Arrondel C, Huynh Cong E, Tulassay T, Mollet G, Perczel A, Antignac C.

Nat Genet. 2014 Mar;46(3):299-304. doi: 10.1038/ng.2898. Epub 2014 Feb 9.

PMID:
24509478
12.

Activating HSP72 in rodent skeletal muscle increases mitochondrial number and oxidative capacity and decreases insulin resistance.

Henstridge DC, Bruce CR, Drew BG, Tory K, Kolonics A, Estevez E, Chung J, Watson N, Gardner T, Lee-Young RS, Connor T, Watt MJ, Carpenter K, Hargreaves M, McGee SL, Hevener AL, Febbraio MA.

Diabetes. 2014 Jun;63(6):1881-94. doi: 10.2337/db13-0967. Epub 2014 Jan 15.

13.

Genotype-phenotype associations in WT1 glomerulopathy.

Lipska BS, Ranchin B, Iatropoulos P, Gellermann J, Melk A, Ozaltin F, Caridi G, Seeman T, Tory K, Jankauskiene A, Zurowska A, Szczepanska M, Wasilewska A, Harambat J, Trautmann A, Peco-Antic A, Borzecka H, Moczulska A, Saeed B, Bogdanovic R, Kalyoncu M, Simkova E, Erdogan O, Vrljicak K, Teixeira A, Azocar M, Schaefer F; PodoNet Consortium.

Kidney Int. 2014 May;85(5):1169-78. doi: 10.1038/ki.2013.519. Epub 2014 Jan 8.

14.

Improvement of insulin sensitivity by a novel drug candidate, BGP-15, in different animal studies.

Literáti-Nagy B, Tory K, Peitl B, Bajza Á, Korányi L, Literáti-Nagy Z, Hooper PL, Vígh L, Szilvássy Z.

Metab Syndr Relat Disord. 2014 Mar;12(2):125-31. doi: 10.1089/met.2013.0098. Epub 2014 Jan 4.

PMID:
24386957
15.

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium, Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F.

Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17.

16.

NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis.

Kerti A, Csohány R, Wagner L, Jávorszky E, Maka E, Tory K.

Pediatr Nephrol. 2013 Oct;28(10):2061-4. doi: 10.1007/s00467-013-2542-4. Epub 2013 Jun 26.

PMID:
23800802
17.

Synergic insulin sensitizing effect of rimonabant and BGP-15 in Zucker-obese rats.

Literati-Nagy Z, Tory K, Literáti-Nagy B, Bajza A, Vígh L Jr, Vígh L, Mandl J, Szilvássy Z.

Pathol Oncol Res. 2013 Jul;19(3):571-5. doi: 10.1007/s12253-013-9620-6. Epub 2013 May 3.

PMID:
23640247
18.

NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.

Kerti A, Csohány R, Szabó A, Arkossy O, Sallay P, Moriniére V, Vega-Warner V, Nyírő G, Lakatos O, Szabó T, Lipska BS, Schaefer F, Antignac C, Reusz G, Tulassay T, Tory K.

Pediatr Nephrol. 2013 May;28(5):751-7. doi: 10.1007/s00467-012-2379-2. Epub 2012 Dec 14.

PMID:
23242530
19.

Cardiovascular risk assessment in children with chronic kidney disease.

Shroff R, Dégi A, Kerti A, Kis E, Cseprekál O, Tory K, Szabó AJ, Reusz GS.

Pediatr Nephrol. 2013 Jun;28(6):875-84. doi: 10.1007/s00467-012-2325-3. Epub 2012 Oct 16. Review.

PMID:
23070276
20.

Hydroximic acid derivatives: pleiotropic HSP co-inducers restoring homeostasis and robustness.

Crul T, Toth N, Piotto S, Literati-Nagy P, Tory K, Haldimann P, Kalmar B, Greensmith L, Torok Z, Balogh G, Gombos I, Campana F, Concilio S, Gallyas F, Nagy G, Berente Z, Gungor B, Peter M, Glatz A, Hunya A, Literati-Nagy Z, Vigh L Jr, Hoogstra-Berends F, Heeres A, Kuipers I, Loen L, Seerden JP, Zhang D, Meijering RA, Henning RH, Brundel BJ, Kampinga HH, Koranyi L, Szilvassy Z, Mandl J, Sumegi B, Febbraio MA, Horvath I, Hooper PL, Vigh L.

Curr Pharm Des. 2013;19(3):309-46. Review.

PMID:
22920902
21.

A novel insulin sensitizer drug candidate-BGP-15-can prevent metabolic side effects of atypical antipsychotics.

Literati-Nagy Z, Tory K, Literáti-Nagy B, Kolonics A, Vígh L Jr, Vígh L, Mandl J, Szilvássy Z.

Pathol Oncol Res. 2012 Oct;18(4):1071-6. Epub 2012 Jun 30.

PMID:
22743983
22.

Cardiovascular risk assessment in children following kidney transplantation.

Dégi A, Kerti A, Kis E, Cseprekál O, Tory K, Szabó AJ, Reusz GS.

Pediatr Transplant. 2012 Sep;16(6):564-76. doi: 10.1111/j.1399-3046.2012.01730.x. Epub 2012 Jun 14. Review.

PMID:
22694162
23.

The HSP co-inducer BGP-15 can prevent the metabolic side effects of the atypical antipsychotics.

Literáti-Nagy Z, Tory K, Literáti-Nagy B, Kolonics A, Török Z, Gombos I, Balogh G, Vígh L Jr, Horváth I, Mandl J, Sümegi B, Hooper PL, Vígh L.

Cell Stress Chaperones. 2012 Jul;17(4):517-21. doi: 10.1007/s12192-012-0327-5. Epub 2012 Feb 10.

24.

Beneficial effect of the insulin sensitizer (HSP inducer) BGP-15 on olanzapine-induced metabolic disorders.

Literáti-Nagy B, Péterfai E, Kulcsár E, Literáti-Nagy Z, Buday B, Tory K, Mandl J, Sümegi B, Fleming A, Roth J, Korányi L.

Brain Res Bull. 2010 Nov 20;83(6):340-4. doi: 10.1016/j.brainresbull.2010.09.005. Epub 2010 Sep 16.

PMID:
20849938
25.

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

Otto EA, Tory K, Attanasio M, Zhou W, Chaki M, Paruchuri Y, Wise EL, Wolf MT, Utsch B, Becker C, Nürnberg G, Nürnberg P, Nayir A, Saunier S, Antignac C, Hildebrandt F.

J Med Genet. 2009 Oct;46(10):663-70. doi: 10.1136/jmg.2009.066613. Epub 2009 Jun 8.

PMID:
19508969
26.

Improvement of insulin sensitivity by a novel drug, BGP-15, in insulin-resistant patients: a proof of concept randomized double-blind clinical trial.

Literáti-Nagy B, Kulcsár E, Literáti-Nagy Z, Buday B, Péterfai E, Horváth T, Tory K, Kolonics A, Fleming A, Mandl J, Korányi L.

Horm Metab Res. 2009 May;41(5):374-80. doi: 10.1055/s-0028-1128142. Epub 2009 Feb 12.

PMID:
19214941
27.

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.

Tory K, Rousset-Rouvière C, Gubler MC, Morinière V, Pawtowski A, Becker C, Guyot C, Gié S, Frishberg Y, Nivet H, Deschênes G, Cochat P, Gagnadoux MF, Saunier S, Antignac C, Salomon R.

Kidney Int. 2009 Apr;75(8):839-47. doi: 10.1038/ki.2008.662. Epub 2009 Jan 28.

28.

The Australian Air Quality Forecasting System: the use of green scenarios of motor vehicle usage as an educational tool.

Cope M, Hess D, Lee S, Tory K, Burgers M, Lilley B.

J Air Waste Manag Assoc. 2008 Jul;58(7):858-64.

PMID:
18672710
29.

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.

Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Berthélémé JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Rüther U, Schneider-Maunoury S, Attié-Bitach T, Saunier S.

Nat Genet. 2007 Jul;39(7):875-81. Epub 2007 Jun 10.

PMID:
17558409
30.

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 K, Lacoste T, Burglen L, Morinière V, Boddaert N, Macher MA, Llanas B, Nivet H, Bensman A, Niaudet P, Antignac C, Salomon R, Saunier S.

J Am Soc Nephrol. 2007 May;18(5):1566-75. Epub 2007 Apr 4.

31.

Pre-clinical methods for the determination of insulin sensitivity.

Zsuga J, Tory K, Jaszlits L, Bajza A, Nemeth J, Peitl B, Szilvassy Z.

J Biochem Biophys Methods. 2004 Oct 29;61(1-2):253-8.

PMID:
15560942
32.

Diffuse growth pattern affects E-cadherin expression in invasive breast cancer.

Brinck U, Jacobs S, Neuss M, Tory K, Rath W, Kulle B, Füzesi L.

Anticancer Res. 2004 Jul-Aug;24(4):2237-42.

33.

Effect of propranolol on heart rate variability in patients with end-stage renal disease: a double-blind, placebo-controlled, randomized crossover pilot trial.

Tory K, Horváth E, Süveges Z, Fekete A, Sallay P, Berta K, Szabó T, Szabó AJ, Tulassay T, Reusz GS.

Clin Nephrol. 2004 May;61(5):316-23.

PMID:
15182126
34.

Autonomic dysfunction in uremia assessed by heart rate variability.

Tory K, Süveges Z, Horváth E, Bokor E, Sallay P, Berta K, Szabó A, Tulassay T, Reusz GS.

Pediatr Nephrol. 2003 Nov;18(11):1167-71. Epub 2003 Sep 17.

PMID:
13680330
35.

BGP-15, a hydroximic acid derivative, protects against cisplatin- or taxol-induced peripheral neuropathy in rats.

Bárdos G, Móricz K, Jaszlits L, Rabloczky G, Tory K, Rácz I, Bernáth S, Sümegi B, Farkas B, Literáti-Nagy B, Literáti-Nagy P.

Toxicol Appl Pharmacol. 2003 Jul 1;190(1):9-16.

PMID:
12831778
36.

BGP-15 - a novel poly(ADP-ribose) polymerase inhibitor - protects against nephrotoxicity of cisplatin without compromising its antitumor activity.

Racz I, Tory K, Gallyas F Jr, Berente Z, Osz E, Jaszlits L, Bernath S, Sumegi B, Rabloczky G, Literati-Nagy P.

Biochem Pharmacol. 2002 Mar 15;63(6):1099-111.

PMID:
11931842
37.

Signs of autonomic neuropathy in childhood uremia.

Tory K, Sallay P, Tóth-Heyn P, Szabó A, Szabó A, Tulassay T, Reusz GS.

Pediatr Nephrol. 2001 Jan;16(1):25-8.

PMID:
11198598
38.

Monitoring cardiovascular changes during hemodialysis in children.

Miltényi G, Tory K, Stubnya G, Tóth-Heyn P, Vásárhelyi B, Sallay P, Szabó A, Tulassay T, Dobos M, Reusz GS.

Pediatr Nephrol. 2001 Jan;16(1):19-24.

PMID:
11198597
39.

Clinical relevance of immunohistochemical expression of p53-targeted gene products mdm-2, p21 and bcl-2 in breast carcinoma.

Bánkfalvi A, Tory K, Kemper M, Breukelmann D, Cubick C, Poremba C, Füzesi L, Lellè RJ, Böcker W.

Pathol Res Pract. 2000;196(7):489-501.

PMID:
10926327
40.

Evaluation of the tyrosine kinase domain of the Met proto-oncogene in sporadic ovarian carcinomas*.

Tanyi J, Tory K, Rigó J Jr, Nagy B, Papp Z.

Pathol Oncol Res. 1999;5(3):187-91.

41.

Analysis of p53 mutation and cyclin D1 expression in breast tumors.

Tanyi J, Tory K, Bánkfalvi A, Shröder W, Rath W, Füzesi L.

Pathol Oncol Res. 1999;5(2):90-4.

42.

Diagnostic relevance of chromosomal in-situ hybridization in Merkel cell carcinoma: targeted interphase cytogenetic tumour analyses.

Amo-Takyi BK, Tietze L, Tory K, Guerreiro P, Günther K, Bhardwaj RS, Mittermayer C, Handt S.

Histopathology. 1999 Feb;34(2):163-9.

PMID:
10064396
43.

Frequent loss of chromosome 12 in human epithelial ovarian tumors: a chromosomal in situ hybridization study.

Tanyi J, Tory K, Amo-Takyi BK, Füzesi L.

Int J Gynecol Pathol. 1998 Apr;17(2):106-12.

PMID:
9553805
44.

Molecular assessment of p53 abnormalities at the invasive front of oral squamous cell carcinomas.

Piffkò J, Bànkfalvi A, Tory K, Füzesi L, Bryne M, Ofner D, Kusch F, Joos U, Schmid KW.

Head Neck. 1998 Jan;20(1):8-15.

PMID:
9464946
46.

NotI linking/jumping clones of human chromosome 3: mapping of the TFRC, RAB7 and HAUSP genes to regions rearranged in leukemia and deleted in solid tumors.

Kashuba VI, Gizatullin RZ, Protopopov AI, Allikmets R, Korolev S, Li J, Boldog F, Tory K, Zabarovska V, Marcsek Z, Sumegi J, Klein G, Zabarovsky ER, Kisselev L.

FEBS Lett. 1997 Dec 15;419(2-3):181-5.

47.

Mechanism of tumorigenesis of renal carcinomas associated with the constitutional chromosome 3;8 translocation.

Schmidt L, Li F, Brown RS, Berg S, Chen F, Wei MH, Tory K, Lerman I, Zbar B.

Cancer J Sci Am. 1995 Sep-Oct;1(3):191-5.

PMID:
9166475
48.

One-megabase yeast artificial chromosome and 400-kilobase cosmid-phage contigs containing the von Hippel-Lindau tumor suppressor and Ca(2+)-transporting adenosine triphosphatase isoform 2 genes.

Kuzmin I, Stackhouse T, Latif F, Duh FM, Geil L, Gnarra J, Yao M, Orcutt ML, Li H, Tory K, et al.

Cancer Res. 1994 May 1;54(9):2486-91.

49.
50.

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