• 1282 Citations
  • 17 h-Index
19982015

Research output per year

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Research Output

  • 1282 Citations
  • 17 h-Index
  • 29 Article
  • 7 Review article
  • 1 Chapter
  • 1 Letter
2015

A novel large deletion and single nucleotide insertion in the Wiskott-Aldrich syndrome protein gene

Gulácsy, V., Soltész, B., Petrescu, C., Bataneant, M., Gyimesi, E., Serban, M., Maródi, L. & Tóth, B., Jul 1 2015, In : European journal of haematology. 95, 1, p. 93-98 6 p.

Research output: Contribution to journalArticle

Investigation of Skin Barrier Functions and Allergic Sensitization in Patients with Hyper-IgE Syndrome

Mócsai, G., Gáspár, K., Dajnoki, Z., Tóth, B., Gyimesi, E., Bíró, T., Maródi, L. & Szegedi, A., Oct 9 2015, In : Journal of Clinical Immunology. 35, 7, p. 681-688 8 p.

Research output: Contribution to journalArticle

7 Citations (Scopus)

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

Tóth, B., Soltész, B., Gyimesi, E., Csorba, G., Veres, Lányi, Kovács, G., Maródi, L. & Erdős, M., Jan 27 2015, In : Journal of Clinical Immunology. 35, 1, p. 26-31 6 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

The evolving view of IL-17-mediated immunity in defense against mucocutaneous candidiasis in humans

Soltész, B., Tóth, B., Sarkadi, A. K., Erdős, M. & Máródi, L., May 25 2015, In : International Reviews of Immunology. 34, 4, p. 348-363 16 p.

Research output: Contribution to journalArticle

7 Citations (Scopus)
2014

Autoantibodies to IL-17A may be correlated with the severity of mucocutaneous candidiasis in APECED patients

Sarkadi, A. K., Taskó, S., Csorba, G., Tóth, B., Erdos, M. & Maródi, L., Jan 1 2014, In : Journal of Clinical Immunology. 34, 2, p. 181-193 13 p.

Research output: Contribution to journalArticle

25 Citations (Scopus)

Severe skin inflammation and filaggrin mutation similarly alter the skin barrier in patients with atopic dermatitis

Mõcsai, G., Gáspár, K., Nagy, G., Irinyi, B., Kapitány, A., Bírõ, T., Gyimesi, E., Tõth, B., Marõdi, L. & Szegedi, A., Mar 2014, In : British Journal of Dermatology. 170, 3, p. 617-624 8 p.

Research output: Contribution to journalArticle

25 Citations (Scopus)
2013

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, A. K., Méhes, L., Rozsíval, P., Neumann, D., Chernyshova, L., Tulassay, Z., Puel, A., Casanova, J. L., Sediva, A., Litzman, J. & Maródi, L., Jul 29 2013, In : Journal of medical genetics. 50, 9, p. 567-578 12 p.

Research output: Contribution to journalArticle

58 Citations (Scopus)

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

Tóth, B., Pistár, Z., Csorba, G., Balogh, I., Kovács, T., Erdos, M. & Maródi, L., Oct 1 2013, In : European journal of haematology. 91, 4, p. 369-375 7 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)
2012

Herpes in STAT1 deficiency

Tóth, B., Méhes, L., Taskó, S., Szalai, Z., Tulassay, Z., Cypowyj, S., Casanova, J. L., Puel, A. & Maródi, L., Jun 2012, In : The Lancet. 379, 9835, 1 p.

Research output: Contribution to journalArticle

48 Citations (Scopus)

Idoskorban kezdett enzimszubsztitúciós terápia Gaucher-kórban

Translated title of the contribution: Enzyme replacement therapy for Gaucher disease introduced in late adulthoodJuhász, P., Tóth, B., Maródi, L. & Erdos, M., Feb 1 2012, In : Orvosi hetilap. 153, 7, p. 264-270 7 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)
2 Citations (Scopus)

Molecular genetic characterization of novel sphingomyelin phosphodiesterase 1 mutations causing Niemann–pick disease

Tóth, B., Erdős, M., Székely, A., Ritli, L., Bagossi, P., Sümegi, J. & Maródi, L., Jan 1 2012, JIMD Reports. Springer, p. 125-129 5 p. (JIMD Reports; vol. 3).

Research output: Chapter in Book/Report/Conference proceedingChapter

6 Citations (Scopus)

Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species

Maródi, L., Cypowyj, S., Tóth, B., Chernyshova, L., Puel, A. & Casanova, J. L., Nov 2012, In : Journal of Allergy and Clinical Immunology. 130, 5, p. 1019-1027 9 p.

Research output: Contribution to journalReview article

35 Citations (Scopus)
2011
7 Citations (Scopus)

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

Liu, L., Okada, S., Kong, X. F., Kreins, A. Y., Cypowyj, S., Abhyankar, A., Toubiana, J., Itan, Y., Audry, M., Nitschke, P., Masson, C., Toth, B., Flatot, J., Migaud, M., Chrabieh, M., Kochetkov, T., Bolze, A., Borghesi, A., Toulon, A., Hiller, J. & 46 others, Eyerich, S., Eyerich, K., Gulácsy, V., Chernyshova, L., Chernyshov, V., Bondarenko, A., Grimaldo, R. M. C., Blancas-Galicia, L., Beas, I. M. M., Roesler, J., Magdorf, K., Engelhard, D., Thumerelle, C., Burgel, P. R., Hoernes, M., Drexel, B., Seger, R., Kusuma, T., Jansson, A. F., Sawalle-Belohradsky, J., Belohradsky, B., Jouanguy, E., Bustamante, J., Bué, M., Karin, N., Wildbaum, G., Bodemer, C., Lortholary, O., Fischer, A., Blanche, S., Al-Muhsen, S., Reichenbach, J., Kobayashi, M., Rosales, F. E., Lozano, C. T., Kilic, S. S., Oleastro, M., Etzioni, A., Traidl-Hoffmann, C., Renner, E. D., Abel, L., Picard, C., Maródi, L., Boisson-Dupuis, S., Puel, A. & Casanova, J. L., Aug 1 2011, In : Journal of Experimental Medicine. 208, 18, p. 1635-1648 14 p.

Research output: Contribution to journalArticle

437 Citations (Scopus)

Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome

Gulácsy, V., Freiberger, T., Shcherbina, A., Pac, M., Chernyshova, L., Avcin, T., Kondratenko, I., Kostyuchenko, L., Prokofjeva, T., Pasic, S., Bernatowska, E., Kutukculer, N., Rascon, J., Iagaru, N., Mazza, C., Tóth, B., Erdodouble acutes, M., van der Burg, M. & Maródi, L., Feb 1 2011, In : Molecular Immunology. 48, 5, p. 788-792 5 p.

Research output: Contribution to journalArticle

23 Citations (Scopus)

Nijmegen breakage syndrome complicated with primary cutaneous tuberculosis

Erdös, M., Tóth, B., Veres, I., Kiss, M., Remenyik, É. & Maródi, L., Apr 2011, In : Pediatric Infectious Disease Journal. 30, 4, p. 359-360 2 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)
2010

Dyskeratosis congenita: Molekuláris diagnosztika és terápiás lehetoségek

Translated title of the contribution: Molecular diagnosis and therapeutic measures in patients with dyskeratosis congenitaReiger, Z. D. R., Varga, G. D. R., Tóth, B., Maródi, L. D. R. & Erdös, M. D. R., Feb 1 2010, In : Orvosi hetilap. 151, 8, p. 285-292 8 p.

Research output: Contribution to journalReview article

3 Citations (Scopus)

Fabry-betegség: Diagnosztikai útmutató

Translated title of the contribution: Fabry disease diagnostic guidelineConstantin, T., Rákóczi, É., Ponyi, A., Ambrus, C., Kádár, K., Vastagh, I., Dajnoki, A., Tóth, B., Bokrétás, G., Müller, V., Katona, M., Csikós, M., Fiedler, O., Széchey, R., Varga, E., Rudas, G., Kertész, A., Molnár, S., Kárpáti, S., Nagy, V. & 8 others, Magyar, P., Mahdi, M., Németh, K., Bereczki, D., Garami, M., Erdos, M., Maródi, L. & Fekete, G., Feb 1 2010, In : Orvosi hetilap. 151, 7, p. 243-249 7 p.

Research output: Contribution to journalReview article

2 Citations (Scopus)

Fabry-betegség - Terápiás útmutató

Translated title of the contribution: Management of Fabry diseaseConstantin, T., Székely, A., Ponyi, A., Gulácsy, V., Ambrus, C., Kádár, K., Vastagh, I., Dajnoki, A., Tóth, B., Bokrétás, G., Müller, V., Katona, M., Medvecz, M., Fiedler, O., Széchey, R., Varga, E., Rudas, G., Kertész, A., Molnár, S., Kárpáti, S. & 10 others, Nagy, V., Magyar, P., Mahdi, M., Rákóczi, E., Németh, K., Bereczki, D., Garami, M., Erdos, M., Maródi, L. & Fekete, G., Aug 1 2010, In : Orvosi hetilap. 151, 31, p. 1243-1251 9 p.

Research output: Contribution to journalReview article

1 Citation (Scopus)

Nijmegen-Breakage-szindróma

Translated title of the contribution: Nijmegen breakage syndromeErdos, M., Tóth, B., Juhász, P., Mahdi, M. & Maródi, L., Apr 1 2010, In : Orvosi hetilap. 151, 16, p. 665-673 9 p.

Research output: Contribution to journalReview article

2 Citations (Scopus)

Novel sequence variation of AIRE and detection of interferon-ω antibodies in early infancy

Tóth, B., Wolff, A. S. B., Halász, Z., Tar, A., Szüts, P., Ilyés, I., Erds, M., Szegedi, G., Husebye, E. S., Zeher, M. & Maródi, L., May 1 2010, In : Clinical Endocrinology. 72, 5, p. 641-647 7 p.

Research output: Contribution to journalArticle

27 Citations (Scopus)

Successful umbilical cord blood stem cell transplantation in a child with WHIM syndrome

Kriván, G., Erdos, M., Kállay, K., Benyó, G., Tóth, Á., Sinkó, J., Goda, V., Tóth, B. & Maródi, L., Mar 1 2010, In : European journal of haematology. 84, 3, p. 274-275 2 p.

Research output: Contribution to journalLetter

26 Citations (Scopus)
2009

Association of Renal Ectopia With Fabry's Disease in 3 Patients

Rákóczi, É., Tóth, B., Görögh, S., Erdos, M., Sümegi, J. & Maródi, L., Apr 1 2009, In : Journal of Urology. 181, 4, p. 1949-1954 6 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: A cohort study

Tóth, B., Volokha, A., Mihas, A., Pac, M., Bernatowska, E., Kondratenko, I., Polyakov, A., Erdos, M., Pasic, S., Bataneant, M., Szaflarska, A., Mironska, K., Richter, D., Stavrik, K., Avcin, T., Márton, G., Nagy, K., Dérfalvi, B., Szolnoky, M., Kalmár, Á. & 18 others, Belevtsev, M., Guseva, M., Rugina, A., Kriván, G., Timár, L., Nyul, Z., Mosdósi, B., Kareva, L., Peova, S., Chernyshova, L., Gherghina, I., Serban, M., Conley, M. E., Notarangelo, L. D., Smith, C. I. E., van Dongen, J., van der Burg, M. & Maródi, L., Jun 1 2009, In : Molecular Immunology. 46, 10, p. 2140-2146 7 p.

Research output: Contribution to journalArticle

38 Citations (Scopus)

Over-expression of integrin β3 can partially overcome the defect of integrin β3 signaling in transglutaminase 2 null macrophages

Tóth, B., Sarang, Z., Vereb, G., Zhang, A., Tanaka, S., Melino, G., Fésüs, L. & Szondy, Z., Sep 22 2009, In : Immunology letters. 126, 1-2, p. 22-28 7 p.

Research output: Contribution to journalArticle

20 Citations (Scopus)

Some lessons from the tissue transglutaminase knockout mouse

Sarang, Z., Tóth, B., Balajthy, Z., Köröskényi, K., Garabuczi, É., Fésüs, L. & Szondy, Z., Apr 1 2009, In : Amino Acids. 36, 4, p. 625-631 7 p.

Research output: Contribution to journalReview article

28 Citations (Scopus)

Transglutaminase 2 is needed for the formation of an efficient phagocyte portal in macrophages engulfing apoptotic cells

Tóth, B., Garabuczi, É., Sarang, Z., Vereb, G., Vámosi, G., Aeschlimann, D., Blaskó, B., Bécsi, B., Erdõdi, F., Lacy-Hulbert, A., Zhang, A., Falasca, L., Birge, R. B., Balajthy, Z., Melino, G., Fésüs, L. & Szondy, Z., Feb 15 2009, In : Journal of Immunology. 182, 4, p. 2084-2092 9 p.

Research output: Contribution to journalArticle

92 Citations (Scopus)
2008

Evaluation of the new micronaut-Candida system compared to the API ID32C method for yeast identification

Szabó, Z., Tóth, B., Kovács, M., Kardos, G., Maráz, A., Rozgonyi, F. & Majoros, L., May 1 2008, In : Journal of Clinical Microbiology. 46, 5, p. 1824-1825 2 p.

Research output: Contribution to journalArticle

17 Citations (Scopus)

Neuroendocrine carcinoma associated with X-linked hyper-immunoglobulin M syndrome: Report of four cases and review of the literature

Erdos, M., Garami, M., Rákóczi, É., Zalatnai, A., Steinbach, D., Baumann, U., Kropshofer, G., Tóth, B. & Maródi, L., Dec 1 2008, In : Clinical Immunology. 129, 3, p. 455-461 7 p.

Research output: Contribution to journalArticle

18 Citations (Scopus)

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

Jiao, H., Tóth, B., Erdos, M., Fransson, I., Rákóczi, É., Balogh, I., Magyarics, Z., Dérfalvi, B., Csorba, G., Szaflarska, A., Megarbane, A., Akatcherian, C., Dbaibo, G., Rajnavölgyi, É., Hammarström, L., Kere, J., Lefranc, G. & Maródi, L., Nov 1 2008, In : Molecular Immunology. 46, 1, p. 202-206 5 p.

Research output: Contribution to journalArticle

54 Citations (Scopus)

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

Erdos, M., Németh, K., Tóth, B., Constantin, T., Rákóczi, É., Ponyi, A., Dajnoki, A., Grubits, J., Pintér, I., Garzuly, F., Hahn, K., Bencsik, K., Vécsei, L., Fekete, G. & Maródi, L., Dec 1 2008, In : Molecular Genetics and Metabolism. 95, 4, p. 224-228 5 p.

Research output: Contribution to journalArticle

7 Citations (Scopus)

Porc-haj hypoplasia

Translated title of the contribution: Cartilage-hair hypoplasiaErdos, M., Tóth, B., Almássy, Z., Tímár, L. & Maródi, L., Feb 3 2008, In : Orvosi hetilap. 149, 5, p. 209-217 9 p.

Research output: Contribution to journalReview article

2 Citations (Scopus)

Retinoid receptor-activating ligands are produced within the mouse thymus during postnatal development

Kiss, I., Rühl, R., Szegezdi, É., Fritzsche, B., Tóth, B., Pongrácz, J., Perlmann, T., Fésüs, L. & Szondy, Z., Jan 1 2008, In : European journal of immunology. 38, 1, p. 147-155 9 p.

Research output: Contribution to journalArticle

25 Citations (Scopus)
2007

A Fabry-kór molekuláris patológiája és klinikai megjelenési formái

Translated title of the contribution: Molecular pathology and clinical manifestations of Fabry diseaseRákóczi, É., Görögh, S., Grubits, J., Erdös, M., Garzuly, F., Hahn, K., Bencsik, K., Vécsei, L., Trinn, C., Kristóf, É., Mogyorósy, G., Tóth, B. & Maródi, L., Jun 10 2007, In : Orvosi hetilap. 148, 23, p. 1087-1094 8 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)
2004

Retinoids induce Fas(CD95) ligand cell surface expression via RARγ and nur77 in T cells

Tóth, B., Ludányi, K., Kiss, I., Reichert, U., Michel, S., Fésüs, L. & Szondy, Z., Mar 1 2004, In : European journal of immunology. 34, 3, p. 827-836 10 p.

Research output: Contribution to journalArticle

9 Citations (Scopus)
2000

β-Amyloid neurotoxicity is mediated by a glutamate-triggered excitotoxic cascade in rat nucleus basalis

Harkany, T., Ábrahám, I., Timmerman, W., Laskay, G., Tóth, B., Sasvári, M., Kónya, C., Sebens, J. B., Korf, J., Nyakas, C., Zarándi, M., Soós, K., Penke, B. & Luiten, P. G. M., Sep 25 2000, In : European Journal of Neuroscience. 12, 8, p. 2735-2745 11 p.

Research output: Contribution to journalArticle

216 Citations (Scopus)
1998

Non-synaptic effects of glutamic acid and GABA in cultures of developing neural cells

Jelitai, M., Herberth, B., Varju, P., Toth, B., Baranyi, M. & Madarasz, E., Dec 1 1998, In : NEUROBIOLOGY. 6, 4, p. 471-472 2 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)