Maródi L - Search Results

1

A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency.

Kellermayer R, Hsu AP, Stankovics J, Balogh P, Hadzsiev K, Vojcek Á, Maródi L, Kajtár P, Kosztolányi G, Puck JM. Kellermayer R, et al. Among authors: marodi l. J Hum Genet. 2006;51(5):495-497. doi: 10.1007/s10038-006-0386-5. Epub 2006 Apr 7. J Hum Genet. 2006. PMID: 16601912

2

Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.

Woellner C, Gertz EM, Schäffer AA, Lagos M, Perro M, Glocker EO, Pietrogrande MC, Cossu F, Franco JL, Matamoros N, Pietrucha B, Heropolitańska-Pliszka E, Yeganeh M, Moin M, Español T, Ehl S, Gennery AR, Abinun M, Breborowicz A, Niehues T, Kilic SS, Junker A, Turvey SE, Plebani A, Sánchez B, Garty BZ, Pignata C, Cancrini C, Litzman J, Sanal O, Baumann U, Bacchetta R, Hsu AP, Davis JN, Hammarström L, Davies EG, Eren E, Arkwright PD, Moilanen JS, Viemann D, Khan S, Maródi L, Cant AJ, Freeman AF, Puck JM, Holland SM, Grimbacher B. Woellner C, et al. Among authors: marodi l. J Allergy Clin Immunol. 2010 Feb;125(2):424-432.e8. doi: 10.1016/j.jaci.2009.10.059. J Allergy Clin Immunol. 2010. PMID: 20159255 Free PMC article.

3

Novel sequence variants of the alpha-galactosidase A gene in patients with Fabry disease.

Erdos M, Németh K, Tóth B, Constantin T, Rákóczi E, Ponyi A, Dajnoki A, Grubits J, Pintér I, Garzuly F, Hahn K, Bencsik K, Vécsei L, Fekete G, Maródi L. Erdos M, et al. Among authors: marodi l. Mol Genet Metab. 2008 Dec;95(4):224-8. doi: 10.1016/j.ymgme.2008.09.002. Epub 2008 Oct 11. Mol Genet Metab. 2008. PMID: 18849176

4

[Early recognition and successful treatment of an infant with severe combined immune deficiency].

Mosdósi B, Decsi T, Nagy K, Soltész G, Maródi L. Mosdósi B, et al. Among authors: marodi l. Orv Hetil. 2002 Sep 8;143(36):2081-3. Orv Hetil. 2002. PMID: 12378899 Hungarian.

5

Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease.

Erdõs M, Uzvölgyi E, Nemes Z, Török O, Rákóczi E, Went-Sümegi N, Sümegi J, Maródi L. Erdõs M, et al. Among authors: marodi l. Hum Mutat. 2005 May;25(5):506. doi: 10.1002/humu.9339. Hum Mutat. 2005. PMID: 15841490

6

IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease.

Ku CL, Picard C, Erdös M, Jeurissen A, Bustamante J, Puel A, von Bernuth H, Filipe-Santos O, Chang HH, Lawrence T, Raes M, Maródi L, Bossuyt X, Casanova JL. Ku CL, et al. Among authors: marodi l. J Med Genet. 2007 Jan;44(1):16-23. doi: 10.1136/jmg.2006.044446. Epub 2006 Sep 1. J Med Genet. 2007. PMID: 16950813 Free PMC article.

7

Recurrent CXCR4 sequence variation in a girl with WHIM syndrome.

Alapi K, Erdos M, Kovács G, Maródi L. Alapi K, et al. Among authors: marodi l. Eur J Haematol. 2007 Jan;78(1):86-8. doi: 10.1111/j.1600-0609.2006.00779.x. Epub 2006 Nov 6. Eur J Haematol. 2007. PMID: 17087743

8

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

Soltész B, Tóth B, Shabashova N, Bondarenko A, Okada S, Cypowyj S, Abhyankar A, Csorba G, Taskó S, Sarkadi AK, Méhes L, Rozsíval P, Neumann D, Chernyshova L, Tulassay Z, Puel A, Casanova JL, Sediva A, Litzman J, Maródi L. Soltész B, et al. Among authors: marodi l. J Med Genet. 2013 Sep;50(9):567-78. doi: 10.1136/jmedgenet-2013-101570. Epub 2013 May 24. J Med Genet. 2013. PMID: 23709754 Free PMC article.

9

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: marodi l. 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.

10

Severe XLP Phenotype Caused by a Novel Intronic Mutation in the SH2D1A Gene.

Tóth B, Soltész B, Gyimesi E, Csorba G, Veres Á, Lányi Á, Kovács G, Maródi L, Erdős M. Tóth B, et al. Among authors: marodi l. J Clin Immunol. 2015 Jan;35(1):26-31. doi: 10.1007/s10875-014-0117-1. Epub 2014 Dec 10. J Clin Immunol. 2015. PMID: 25491288

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