Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 26

1.

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 Jun 28. doi: 10.1007/s00467-018-3992-5. [Epub ahead of print]

PMID:
29956005
2.

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 Feb 2. pii: S2213-2198(18)30042-4. doi: 10.1016/j.jaip.2018.01.015. [Epub ahead of print] No abstract available.

PMID:
29410113
3.

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
4.

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.

5.

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
6.

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.

7.

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.

8.

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
9.

DAAM is required for thin filament formation and Sarcomerogenesis during muscle development in Drosophila.

Molnár I, Migh E, Szikora S, Kalmár T, Végh AG, Deák F, Barkó S, Bugyi B, Orfanos Z, Kovács J, Juhász G, Váró G, Nyitrai M, Sparrow J, Mihály J.

PLoS Genet. 2014 Feb 27;10(2):e1004166. doi: 10.1371/journal.pgen.1004166. eCollection 2014 Feb.

10.

DAAM family members leading a novel path into formin research.

Prokop A, Sánchez-Soriano N, Gonçalves-Pimentel C, Molnár I, Kalmár T, Mihály J.

Commun Integr Biol. 2011 Sep;4(5):538-42. doi: 10.4161/cib.4.5.16511. Epub 2011 Sep 1.

11.

Regulated fluctuations in nanog expression mediate cell fate decisions in embryonic stem cells.

Kalmar T, Lim C, Hayward P, Muñoz-Descalzo S, Nichols J, Garcia-Ojalvo J, Martinez Arias A.

PLoS Biol. 2009 Jul;7(7):e1000149. doi: 10.1371/journal.pbio.1000149. Epub 2009 Jul 7.

12.

Wnt/Notch signalling and information processing during development.

Hayward P, Kalmar T, Arias AM.

Development. 2008 Feb;135(3):411-24. doi: 10.1242/dev.000505. Review.

13.

Comparison of maternal lineage and biogeographic analyses of ancient and modern Hungarian populations.

Tömöry G, Csányi B, Bogácsi-Szabó E, Kalmár T, Czibula A, Csosz A, Priskin K, Mende B, Langó P, Downes CS, Raskó I.

Am J Phys Anthropol. 2007 Nov;134(3):354-68.

PMID:
17632797
14.

The effect of atorvastatin therapy on lecithin:cholesterol acyltransferase, cholesteryl ester transfer protein and the antioxidant paraoxonase.

Kassai A, Illyés L, Mirdamadi HZ, Seres I, Kalmár T, Audikovszky M, Paragh G.

Clin Biochem. 2007 Jan;40(1-2):1-5. Epub 2006 Jun 9.

PMID:
16999950
15.

Mitochondrial DNA of ancient Cumanians: culturally Asian steppe nomadic immigrants with substantially more western Eurasian mitochondrial DNA lineages.

Bogácsi-Szabó E, Kalmár T, Csányi B, Tömöry G, Czibula A, Priskin K, Horváth F, Downes CS, Raskó I.

Hum Biol. 2005 Oct;77(5):639-62.

PMID:
16596944
16.

Functional studies of signaling pathways in peri-implantation development of the mouse embryo by RNAi.

Soares ML, Haraguchi S, Torres-Padilla ME, Kalmar T, Carpenter L, Bell G, Morrison A, Ring CJ, Clarke NJ, Glover DM, Zernicka-Goetz M.

BMC Dev Biol. 2005 Dec 28;5:28.

17.

Correlation between the activities of lipoprotein lipase and paraoxonase in type 2 diabetes mellitus.

Kalmár T, Seres I, Balogh Z, Káplár M, Winkler G, Paragh G.

Diabetes Metab. 2005 Dec;31(6):574-80.

PMID:
16357806
18.

[Structural analysis of the PKR-binding region of HCV 1b samples from patients with chronic hepatitis C and the correlation with IFN-sensitivity].

Gervain J, Czibula A, Simon J, Kalmár T.

Orv Hetil. 2003 Jun 15;144(24):1179-84. Hungarian.

PMID:
12866147
19.

Anovel catalase mutation (a GA insertion) causes the Hungarian type of acatalasemia.

Góth L, Shemirani A, Kalmár T.

Blood Cells Mol Dis. 2000 Apr;26(2):151-4.

PMID:
11001624
20.

A simple PCR-heteroduplex screening method for detection of a common mutation of the catalase gene in Hungary.

Góth L, Gorzsás A, Kalmár T.

Clin Chem. 2000 Aug;46(8 Pt 1):1199-200. No abstract available.

21.

A simple and efficient method for PCR amplifiable DNA extraction from ancient bones.

Kalmár T, Bachrati CZ, Marcsik A, Raskó I.

Nucleic Acids Res. 2000 Jun 15;28(12):E67.

22.

Carrier detection by microsatellite analysis of Duchenne/Becker muscular dystrophy in Hungarian families.

Bachrati CZ, Somodi Z, Endreffy E, Kalmár T, Raskó I.

Ann Hum Genet. 1998 Nov;62(Pt 6):511-20.

23.

Analysis of CAG repeat expansion in Huntington's disease gene (IT 15) in a Hungarian population.

Jakab K, Gárdián G, Endreffy E, Kalmár T, Bachrati C, Vécsei L, Raskó I.

Eur Neurol. 1999;41(2):107-10.

PMID:
10023115
24.

Childhood membranous nephropathy, circulating antibodies to the 58-kD TIN antigen, and anti-tubular basement membrane nephritis: an 11-year follow-up.

Iványi B, Haszon I, Endreffy E, Szenohradszky P, Petri IB, Kalmár T, Butkowski RJ, Charonis AS, Túri S.

Am J Kidney Dis. 1998 Dec;32(6):1068-74. Review.

PMID:
9856526
25.

Insect (Locusta migratoria migratorioides) test monitoring the toxicity of cyanobacteria.

Hiripi L, Nagy L, Kalmár T, Kovács A, Vörös L.

Neurotoxicology. 1998 Aug-Oct;19(4-5):605-8.

PMID:
9745918
26.

[Phenotypic variability of dysostosis mandibulofacialis in a family (Teacher Collins-Franceschetti syndrome)].

Pohánka P, Kalmár T.

Cesk Pediatr. 1982 Jan;37(1):27-9. Slovak. No abstract available.

PMID:
7060189

Supplemental Content

Loading ...
Support Center