• 1254 Citations
  • 17 h-Index
19982015
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Research Output 1998 2015

  • 1254 Citations
  • 17 h-Index
  • 37 Article
  • 1 Chapter
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., Máródi, L. & Tóth, B., júl. 1 2015, In : European Journal of Haematology. 95, 1, p. 93-98 6 p.

Research output: Article

Wiskott-Aldrich Syndrome Protein
Exons
Nucleotides
Sequence Deletion
Introns
7 Citations (Scopus)
Job Syndrome
Skin
Atopic Dermatitis
Immunoglobulin E
Th17 Cells
3 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, A., Kovács, G., Máródi, L. & Erdős, M., 2015, In : Journal of Clinical Immunology. 35, 1, p. 26-31 6 p.

Research output: Article

Phenotype
Mutation
Complementary DNA
Mothers
Genes
7 Citations (Scopus)
Interleukin-17
Candidiasis
Interleukins
Immunity
Candida
2014
24 Citations (Scopus)
Autoimmune Polyendocrinopathies
Interleukin-17
Candidiasis
Autoantibodies
Chronic Mucocutaneous Candidiasis
24 Citations (Scopus)
Atopic Dermatitis
Inflammation
Skin
Mutation
Haploinsufficiency
2013
58 Citations (Scopus)

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., 2013, In : Journal of Medical Genetics. 50, 9, p. 567-578 12 p.

Research output: Article

Chronic Mucocutaneous Candidiasis
Eastern Europe
Mutation
Interleukin-17
Intracranial Aneurysm
3 Citations (Scopus)
Cytokinesis
Multiplex Polymerase Chain Reaction
Exons
Mutation
DNA Mutational Analysis
2012
47 Citations (Scopus)

Herpes in STAT1 deficiency

Tóth, B., Méhes, L., Taskó, S., Szalai, Z., Tulassay, Z., Cypowyj, S., Casanova, J. L., Puel, A. & Máródi, L., jún. 2012, In : The Lancet. 379, 9835, p. 2500 1 p.

Research output: Article

1 Citation (Scopus)

Idoskorban kezdett enzimszubsztitúciós terápia Gaucher-kórban

Juhász, P., Tóth, B., Máródi, L. & Erdős, M., febr. 1 2012, In : Orvosi Hetilap. 153, 7, p. 264-270 7 p.

Research output: Article

Enzyme Replacement Therapy
Gaucher Disease
Glucosylceramidase
Bone and Bones
Spontaneous Fractures
2 Citations (Scopus)
CD40 Ligand
Twin Pregnancy
Molecular Pathology
Type 1 Hyper-IgM Immunodeficiency Syndrome
Fetus
5 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. & Máródi, L., jan. 1 2012, JIMD Reports. Springer, p. 125-129 5 p. (JIMD Reports; vol. 3).

Research output: Chapter

Sphingomyelin Phosphodiesterase
Molecular Biology
Mutation
Type A Niemann-Pick Disease
Acids
35 Citations (Scopus)

Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species

Máródi, 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: Article

Staphylococcus
Candida
Immunity
STAT Transcription Factors
Mutation
2011
7 Citations (Scopus)
X-Linked Genetic Diseases
Agammaglobulinemia
Sulfasalazine
Naproxen
Juvenile Arthritis
422 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., Tóth, 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., Máródi, 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: Article

Chronic Mucocutaneous Candidiasis
Interleukin-17
Immunity
Mutation
Interleukin-27
23 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. & Máródi, L., febr. 2011, In : Molecular Immunology. 48, 5, p. 788-792 5 p.

Research output: Article

Wiskott-Aldrich Syndrome
Mutation
Genes
Nonsense Codon
Eczema
4 Citations (Scopus)
Nijmegen Breakage Syndrome
cutaneous Tuberculosis
Microcephaly
Chromosomal Instability
Mycobacterium
2010
3 Citations (Scopus)

Dyskeratosis congenita: Molekuláris diagnosztika és terápiás lehetoségek

Reiger, Z. D. R., Varga, G. D. R., Tóth, B., Máródi, L. & Erdős, M., febr. 1 2010, In : Orvosi Hetilap. 151, 8, p. 285-292 8 p.

Research output: Article

Dyskeratosis Congenita
Premature Aging
Mutation
Molecular Pathology
Family Planning Services
2 Citations (Scopus)

Fabry-betegség: Diagnosztikai útmutató

Constantin, 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., Erdős, M., Máródi, L. & Fekete, G., febr. 1 2010, In : Orvosi Hetilap. 151, 7, p. 243-249 7 p.

Research output: Article

Fabry Disease
Guidelines
Enzyme Replacement Therapy
Premature Mortality
Delivery of Health Care
1 Citation (Scopus)

Fabry-betegség - Terápiás útmutató

Constantin, 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., Erdős, M., Máródi, L. & Fekete, G., aug. 1 2010, In : Orvosi Hetilap. 151, 31, p. 1243-1251 9 p.

Research output: Article

Fabry Disease
Guidelines
Enzyme Replacement Therapy
Premature Mortality
Patient Care
2 Citations (Scopus)

Nijmegen-Breakage-szindróma

Erdős, M., Tóth, B., Juhász, P., Mahdi, M. & Máródi, L., ápr. 1 2010, In : Orvosi Hetilap. 151, 16, p. 665-673 9 p.

Research output: Article

Nijmegen Breakage Syndrome
Severe Combined Immunodeficiency
Microcephaly
Chromosomal Instability
Molecular Pathology
27 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., Erdős, M., Szegedi, G., Husebye, E. S., Zeher, M. & Máródi, L., máj. 2010, In : Clinical Endocrinology. 72, 5, p. 641-647 7 p.

Research output: Article

Interferons
Antibodies
Autoimmune Diseases
Mutation
Chronic Mucocutaneous Candidiasis
26 Citations (Scopus)

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

Kriván, G., Erdős, M., Kállay, K., Benyó, G., Tóth, Á., Sinkó, J., Goda, V., Tóth, B. & Máródi, L., márc. 2010, In : European Journal of Haematology. 84, 3, p. 274-275 2 p.

Research output: Article

Cord Blood Stem Cell Transplantation
Immunologic Deficiency Syndromes
CXCR4 Receptors
Remission Induction
Dominant Genes
2009

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

Rákóczi, É., Tóth, B., Görögh, S., Erdős, M., Sümegi, J. & Máródi, L., ápr. 2009, In : Journal of Urology. 181, 4, p. 1949-1954 6 p.

Research output: Article

Fabry Disease
Galactosidases
Kidney
Genes
X-Linked Genes
37 Citations (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., Erdős, 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. & Máródi, L., jún. 2009, In : Molecular Immunology. 46, 10, p. 2140-2146 7 p.

Research output: Article

Eastern Europe
Cohort Studies
Demography
Genes
Mutation
19 Citations (Scopus)
Integrins
Macrophages
Autoimmunity
transglutaminase 2
Enzymes
28 Citations (Scopus)

Some lessons from the tissue transglutaminase knockout mouse

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

Research output: Article

Knockout Mice
Cell Adhesion
Acyltransferases
Transglutaminases
Cell adhesion
89 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., Erdődi, F., Lacy-Hulbert, A., Zhang, A., Falasca, L., Birge, R. B., Balajthy, Z., Melino, G., Fésüs, L. & Szondy, Z., febr. 15 2009, In : Journal of Immunology. 182, 4, p. 2084-2092 9 p.

Research output: Article

Phagocytes
Integrins
Macrophages
Cytophagocytosis
Guanine Nucleotides
2008
16 Citations (Scopus)
Candida
Yeasts
Geotrichum
Trichosporon
Rhodotorula
18 Citations (Scopus)
Neuroendocrine Carcinoma
Immunoglobulin M
CD40 Ligand
Pneumocystis carinii
Chromogranin A
54 Citations (Scopus)

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

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

Research output: Article

Job Syndrome
STAT3 Transcription Factor
Ethnic Groups
Mutation
Genes
7 Citations (Scopus)

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

Erdős, 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. & Máródi, L., dec. 2008, In : Molecular Genetics and Metabolism. 95, 4, p. 224-228 5 p.

Research output: Article

Galactosidases
Fabry Disease
Genes
Mutation
Consanguinity
2 Citations (Scopus)

Porc-haj hypoplasia

Erdős, M., Tóth, B., Almássy, Z., Tímár, L. & Máródi, L., febr. 3 2008, In : Orvosi Hetilap. 149, 5, p. 209-217 9 p.

Research output: Article

Enchondromatosis
Molecular Pathology
Molecular Biology
T-Lymphocytes
Therapeutics
25 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. 2008, In : European Journal of Immunology. 38, 1, p. 147-155 9 p.

Research output: Article

Retinoids
Tretinoin
Thymus Gland
Ligands
Vitamin A
2007
1 Citation (Scopus)

A Fabry-kór molekuláris patológiája és klinikai megjelenési formái

Rákóczi, É., Görögh, S., Grubits, J., Erdős, M., Garzuly, F., Hahn, K., Bencsik, K., Vécsei, L., Trinn, C., Kristóf, É., Mogyorósy, G., Tóth, B. & Máródi, L., jún. 10 2007, In : Orvosi Hetilap. 148, 23, p. 1087-1094 8 p.

Research output: Article

Fabry Disease
Molecular Pathology
Angiokeratoma
Enzyme Replacement Therapy
Mutation
2004
9 Citations (Scopus)

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., márc. 2004, In : European Journal of Immunology. 34, 3, p. 827-836 10 p.

Research output: Article

Retinoic Acid Receptors
Fas Ligand Protein
Retinoids
T-Lymphocytes
Tretinoin
2000
215 Citations (Scopus)

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., 2000, In : European Journal of Neuroscience. 12, 8, p. 2735-2745 11 p.

Research output: Article

N-Methyl-D-Aspartate Receptors
Amyloid
Glutamic Acid
Excitatory Amino Acids
Dizocilpine Maleate
1998
1 Citation (Scopus)

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

Jelitai, M., Herberth, B., Varju, P., Tóth, B., Baranyi, M. & Madarász, E., 1998, In : Neurobiology. 6, 4, p. 471-472 2 p.

Research output: Article

Ectoderm
Potassium Chloride
Cell Division
Membrane Potentials
gamma-Aminobutyric Acid