Balogh I - Search Results

1

Novel dedicator of cytokinesis 8 mutations identified by multiplex ligation-dependent probe amplification.

Tóth B, Pistár Z, Csorba G, Balogh I, Kovács T, Erdős M, Maródi L. Tóth B, et al. Among authors: balogh i. Eur J Haematol. 2013 Oct;91(4):369-75. doi: 10.1111/ejh.12173. Epub 2013 Aug 20. Eur J Haematol. 2013. PMID: 23859592

2

Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene.

Erdos M, Alapi K, Balogh I, Oroszlán G, Rákóczi E, Sümegi J, Maródi L. Erdos M, et al. Among authors: balogh i. Exp Hematol. 2006 Nov;34(11):1517-21. doi: 10.1016/j.exphem.2006.06.009. Exp Hematol. 2006. PMID: 17046571 Free article.

3

Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups.

Jiao H, Tóth B, Erdos M, Fransson I, Rákóczi E, Balogh I, Magyarics Z, Dérfalvi B, Csorba G, Szaflarska A, Megarbane A, Akatcherian C, Dbaibo G, Rajnavölgyi E, Hammarström L, Kere J, Lefranc G, Maródi L. Jiao H, et al. Among authors: balogh i. Mol Immunol. 2008 Nov;46(1):202-6. doi: 10.1016/j.molimm.2008.07.001. Epub 2008 Aug 15. Mol Immunol. 2008. PMID: 18706697

4

Molecular Diagnostic Challenges and Complex Management of Consecutive Twin Pregnancies in a Family with CD40 Ligand Deficiency.

Török O, Tóth B, Erdős M, Csorba G, Gyimesi E, Balogh I, Tóth Z, Maródi L. Török O, et al. Among authors: balogh i. Scand J Immunol. 2012 Feb;75(2):227-30. doi: 10.1111/j.1365-3083.2011.02644.x. Scand J Immunol. 2012. PMID: 21958324 Free article.

5

Copy number variants detection by microarray and multiplex ligation-dependent probe amplification in congenital heart diseases.

Nagy O, Szakszon K, Biró BO, Mogyorósy G, Nagy D, Nagy B, Balogh I, Ujfalusi A. Nagy O, et al. Among authors: balogh i. J Biotechnol. 2019 Jun 20;299:86-95. doi: 10.1016/j.jbiotec.2019.04.025. Epub 2019 May 1. J Biotechnol. 2019. PMID: 31054299

6

The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development.

Nagy O, Kárteszi J, Hartwig M, Bertalan R, Jávorszky E, Erhardt É, Patócs A, Tornóczky T, Balogh I, Ujfalusi A. Nagy O, et al. Among authors: balogh i. Mol Biol Rep. 2019 Oct;46(5):5595-5601. doi: 10.1007/s11033-019-04980-8. Epub 2019 Jul 23. Mol Biol Rep. 2019. PMID: 31338750

7

Severe coagulation factor V deficiency caused by 2 novel frameshift mutations: 2952delT in exon 13 and 5493insG in exon 16 of factor 5 gene.

Ajzner E E, Balogh I, Szabó T, Marosi A, Haramura G, Muszbek L. Ajzner E E, et al. Among authors: balogh i. Blood. 2002 Jan 15;99(2):702-5. doi: 10.1182/blood.v99.2.702. Blood. 2002. PMID: 11781258 Free article.

8

Five years experiences with microinjection of testicular spermatozoa into oocytes in Hungary.

Mátyás S, Rajczy K, Papp G, Bernard A, Korponai E, Kovács T, Krizsa F, Kulin S, Menyhárt R, Szmatona G, Kopa Z, Erdei E, Balogh I, Gáti I, Egyed J, Kaali SG. Mátyás S, et al. Among authors: balogh i. Andrologia. 2002 Sep;34(4):248-54. doi: 10.1046/j.1439-0272.2002.00503.x. Andrologia. 2002. PMID: 12220233

9

Detection of mutations by flow cytometric melting point analysis of PCR products.

Imre L, Balogh I, Kappelmayer J, Szabó M, Melegh B, Wanker E, Szabó G. Imre L, et al. Among authors: balogh i. Cytometry A. 2011 Sep;79(9):720-6. doi: 10.1002/cyto.a.21104. Epub 2011 Jul 19. Cytometry A. 2011. PMID: 21774077 Free article.

10

A novel homozygous mutation (1619delC) in GPIIb gene associated with Glanzmann thrombasthenia, the decay of GPIIb-mRNA and the synthesis of a truncated GPIIb unable to form complex with GPIIIa.

Losonczy G, Rosenberg N, Kiss C, Kappelmayer J, Vereb G, Kerényi A, Balogh I, Muszbek L. Losonczy G, et al. Among authors: balogh i. Thromb Haemost. 2005 May;93(5):904-9. doi: 10.1160/TH04-12-0848. Thromb Haemost. 2005. PMID: 15886807

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