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Items: 24

1.

Whole-exome sequencing data of suicide victims who had suffered from major depressive disorder.

Tombácz D, Maróti Z, Kalmár T, Palkovits M, Snyder M, Boldogkői Z.

Sci Data. 2019 Feb 5;6:190010. doi: 10.1038/sdata.2019.10.

2.

A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature.

Zombor M, Kalmár T, Nagy N, Berényi M, Telcs B, Maróti Z, Brandau O, Sztriha L.

J Appl Genet. 2019 May;60(2):151-162. doi: 10.1007/s13353-019-00486-y. Epub 2019 Feb 1. Review.

PMID:
30706430
3.

Correction: Mitogenomic data indicate admixture components of Central-Inner Asian and Srubnaya origin in the conquering Hungarians.

Neparáczki E, Maróti Z, Kalmár T, Kocsy K, Maár K, Bihari P, Nagy I, Fóthi E, Pap I, Kustár Á, Pálfi G, Raskó I, Zink A, Török T.

PLoS One. 2018 Nov 29;13(11):e0208295. doi: 10.1371/journal.pone.0208295. eCollection 2018.

4.

Evaluation of whole exome sequencing as an alternative to BeadChip and whole genome sequencing in human population genetic analysis.

Maróti Z, Boldogkői Z, Tombácz D, Snyder M, Kalmár T.

BMC Genomics. 2018 Oct 29;19(1):778. doi: 10.1186/s12864-018-5168-x.

5.

Mitogenomic data indicate admixture components of Central-Inner Asian and Srubnaya origin in the conquering Hungarians.

Neparáczki E, Maróti Z, Kalmár T, Kocsy K, Maár K, Bihari P, Nagy I, Fóthi E, Pap I, Kustár Á, Pálfi G, Raskó I, Zink A, Török T.

PLoS One. 2018 Oct 18;13(10):e0205920. doi: 10.1371/journal.pone.0205920. eCollection 2018. Erratum in: PLoS One. 2018 Nov 29;13(11):e0208295.

6.

Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability.

Zombor M, Kalmár T, Maróti Z, Zimmermann A, Máté A, Bereczki C, Sztriha L.

J Hum Genet. 2018 Nov;63(11):1189-1193. doi: 10.1038/s10038-018-0508-x. Epub 2018 Sep 4.

PMID:
30181650
7.

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
8.

Partial RAG deficiency in a patient with varicella infection, autoimmune cytopenia, and anticytokine antibodies.

Goda V, Malik A, Kalmar T, Maroti Z, Patel B, Ujhazi B, Csomos K, Hale JE, Chen K, Bleesing J, Palma P, Cancrini C, Comeau AM, Krivan G, Walter JE.

J Allergy Clin Immunol Pract. 2018 Sep - Oct;6(5):1769-1771.e2. doi: 10.1016/j.jaip.2018.01.015. Epub 2018 Feb 2. No abstract available.

PMID:
29410113
9.

Diffuse mesangial sclerosis in a PDSS2 mutation-induced coenzyme Q10 deficiency.

Iványi B, Rácz GZ, Gál P, Brinyiczki K, Bódi I, Kalmár T, Maróti Z, Bereczki C.

Pediatr Nephrol. 2018 Mar;33(3):439-446. doi: 10.1007/s00467-017-3814-1. Epub 2017 Oct 14.

PMID:
29032433
10.

High-Coverage Whole-Exome Sequencing Identifies Candidate Genes for Suicide in Victims with Major Depressive Disorder.

Tombácz D, Maróti Z, Kalmár T, Csabai Z, Balázs Z, Takahashi S, Palkovits M, Snyder M, Boldogkői Z.

Sci Rep. 2017 Aug 2;7(1):7106. doi: 10.1038/s41598-017-06522-3.

11.

Neurocognitive Characterization of an SCA28 Family Caused by a Novel AFG3L2 Gene Mutation.

Szpisjak L, Nemeth VL, Szepfalusi N, Zadori D, Maroti Z, Kalmar T, Vecsei L, Klivenyi P.

Cerebellum. 2017 Dec;16(5-6):979-985. doi: 10.1007/s12311-017-0870-9. No abstract available.

PMID:
28660440
12.

Revising mtDNA haplotypes of the ancient Hungarian conquerors with next generation sequencing.

Neparáczki E, Kocsy K, Tóth GE, Maróti Z, Kalmár T, Bihari P, Nagy I, Pálfi G, Molnár E, Raskó I, Török T.

PLoS One. 2017 Apr 19;12(4):e0174886. doi: 10.1371/journal.pone.0174886. eCollection 2017.

13.

Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders.

Kovács G, Kalmár T, Endreffy E, Ondrik Z, Iványi B, Rikker C, Haszon I, Túri S, Sinkó M, Bereczki C, Maróti Z.

PLoS One. 2016 Mar 2;11(3):e0149241. doi: 10.1371/journal.pone.0149241. eCollection 2016.

14.

Novel frameshift mutation in the CHD7 gene associated with CHARGE syndrome with preaxial polydactyly.

Surányi A, Maróti Z, Tálosi G, Kalmár T, Kaiser L, Bereczki C, Pál A, Keresztúri A.

Clin Dysmorphol. 2016 Jul;25(3):98-100. doi: 10.1097/MCD.0000000000000120. No abstract available.

PMID:
26901670
15.

Changes in NADPH oxidase mRNA level can be detected in blood at inhaled corticosteroid treated asthmatic children.

Ökrös Z, Endreffy E, Novak Z, Maroti Z, Monostori P, Varga IS, Király A, Turi S.

Life Sci. 2012 Nov 2;91(19-20):907-11. doi: 10.1016/j.lfs.2012.08.039. Epub 2012 Sep 13.

PMID:
22982469
16.

Genetic polymorphisms and the risk of progressive renal failure in elderly Hungarian patients.

Zsom M, Fülöp T, Zsom L, Baráth A, Maróti Z, Endreffy E.

Hemodial Int. 2011 Oct;15(4):501-8. doi: 10.1111/j.1542-4758.2011.00593.x. Epub 2011 Sep 13.

PMID:
22111818
17.

Collagen type IV nephropathy: genetic heterogeneity examinations in affected Hungarian families.

Endreffy E, Ondrik Z, Iványi B, Maróti Z, Bereczki C, Haszon I, Györke Z, Worum E, Németh K, Rikker C, Ökrös Z, Túri S.

Mol Cell Probes. 2011 Feb;25(1):28-34. doi: 10.1016/j.mcp.2010.10.001. Epub 2010 Oct 14.

PMID:
20951199
18.

Usefulness of combined genetic data in Hungarian families affected by autosomal dominant polycystic kidney disease.

Endreffy E, Maróti Z, Bereczki C, Túri S.

Mol Cell Probes. 2009 Feb;23(1):39-43. doi: 10.1016/j.mcp.2008.11.001. Epub 2008 Nov 21.

PMID:
19056484
19.

Increased heme oxygenase-1 expression in premature infants with respiratory distress syndrome.

Farkas I, Maróti Z, Katona M, Endreffy E, Monostori P, Máder K, Túri S.

Eur J Pediatr. 2008 Dec;167(12):1379-83. doi: 10.1007/s00431-008-0673-6. Epub 2008 Feb 27.

PMID:
18301921
20.

Heme oxygenase-1 expression in premature and mature neonates during the first week of life.

Maróti Z, Katona M, Orvos H, Németh I, Farkas I, Túri S.

Eur J Pediatr. 2007 Oct;166(10):1033-8. Epub 2007 Jan 4.

PMID:
17203280
21.

[Collagen type IV nephropathy: from thin basement membrane nephropathy to Alport syndrome].

Endreffy E, Ondrik Z, Kemény E, Vas Z, Maróti Z, Lencse G, Bereczki C, Haszon I, Túri S, Iványi B.

Orv Hetil. 2005 Dec 25;146(52):2647-53. Hungarian.

PMID:
16468607
22.

Heme oxygenase 1 expression in young uremic patients on hemodialysis.

Maróti Z, Németh I, Túri S, Karg E, Ugocsai P, Endreffy E.

Pediatr Nephrol. 2004 Apr;19(4):426-31. Epub 2004 Feb 24.

PMID:
14986081
23.

Refinement and delineation of the breakpoint regions of a chromosome 1;22 translocation in a patient with Costello syndrome.

Maróti Z, Kutsche K, Sutajova M, Gal A, Nothwang HG, Czeizel AE, Tímár L, Sólyom E.

Am J Med Genet. 2002 May 1;109(3):234-7. No abstract available.

PMID:
11977185
24.

[Microsecond delayed Chlorella fluorescence].

Latsko G, Maroti Z, Ringler A, Shalan L.

Biofizika. 1980 May-Jun;25(3):531-6. Russian.

PMID:
7397267

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