Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Gabriella, Csorba"'
Autor:
Anna Deák, Katalin Koczok, Beáta Bessenyei, Zsuzsanna Szűcs, László Madar, Gabriella Csorba, Orsolya Orosz, István Laki, Adrien Halász, Géza Marsal, István Balogh
Publikováno v:
Orvosi Hetilap. 163:2052-2059
Bevezetés: A cystás fibrosis (CF) az egyik leggyakoribb monogénes betegség. A genetikai vizsgálat a kóros mutációk kiderítésével a diagnózis felállításához, illetve megerősítéséhez egyre inkább elengedhetetlenné válik. A magyar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5fb8f634d2594d6d054fe56c2b1e12e0
https://doi.org/10.1556/650.2022.32655
https://doi.org/10.1556/650.2022.32655
Autor:
Anna, Deák, Katalin, Koczok, Beáta, Bessenyei, Zsuzsanna, Szűcs, László, Madar, Gabriella, Csorba, Orsolya, Orosz, István, Laki, Adrien, Halász, Géza, Marsal, István, Balogh
Publikováno v:
Orvosi hetilap. 163(51)
Cystic fibrosis (CF) is one of the most common monogenic diseases. Genetic testing is becoming increasingly reasoned to establish or confirm the diagnosis by detecting abnormal mutations.In order to develop a diagnostic strategy for cystic fibrosis a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6da037ce0c8d9bf3ea4c669a1805778b
https://pubmed.ncbi.nlm.nih.gov/36528828
https://pubmed.ncbi.nlm.nih.gov/36528828
Autor:
Istvan Balogh, Zoltán Tóth, László Maródi, Edit Gyimesi, Gabriella Csorba, Melinda Erdős, Beáta Tóth, Olga Török
Publikováno v:
Scandinavian Journal of Immunology. 75:227-230
X-linked hyper-IgM syndrome (XHIGM) is a primary immunodeficiency disorder (PID) caused by mutation in the gene encoding the CD40 ligand (CD40L) expressed on activated T cells. Prenatal genotyping in carriers with twin pregnancies is more challenging
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e654a5be097fd0b968b70d6de94929a0
https://doi.org/10.1111/j.1365-3083.2011.02644.x
https://doi.org/10.1111/j.1365-3083.2011.02644.x
Autor:
Beáta Soltész, Gabriella Csorba, Melinda Erdős, Beáta Tóth, László Maródi, Arpad Lanyi, Agota Veres, Edit Gyimesi, Gabor G. Kovacs
We describe here a novel c.137 + 5G > A intronic mutation in the SH2D1A gene of the signaling lymphocyte activation molecule (SLAM)-associated protein (SAP) in association with Epstein-Barr virus (EBV)-induced fatal infectious mononucleosis (FIM) in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::795e26eb40e391f8d032d1ac651a7614
Autor:
Melinda Erdős, Zsuzsanna Pistár, László Maródi, Istvan Balogh, Tímea Kovács, Beáta Tóth, Gabriella Csorba
Publikováno v:
European journal of haematology. 91(4)
Dedicator of cytokinesis 8 (DOCK8) deficiency is an innate error of adaptive immunity characterized by recurrent infections with viruses, bacteria and fungi, very high serum IgE concentrations, and a progressive deterioration of T- and B-cell-mediate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0afbb74b4d3d5b9ff74c05c8c4f9b954
https://pubmed.ncbi.nlm.nih.gov/23859592
https://pubmed.ncbi.nlm.nih.gov/23859592
Autor:
Nadejda Shabashova, Sophie Cypowyj, Jiri Litzman, Beáta Tóth, Satoshi Okada, Zsolt Tulassay, Avinash Abhyankar, Liudmyla Chernyshova, Pavel Rozsíval, Beáta Soltész, Adrien Katalin Sarkadi, Anne Puel, David Neumann, László Maródi, Gabriella Csorba, Leonóra Méhes, Szilvia Taskó, Jean-Laurent Casanova, Anna Sediva, Anastasia Bondarenko
Publikováno v:
Journal of Medical Genetics
Background Chronic mucocutaneous candidiasis disease (CMCD) may result from various inborn errors of interleukin (IL)-17-mediated immunity. Twelve of the 13 causal mutations described to date affect the coiled-coil domain (CCD) of STAT1 . Several mut
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf34c011505b6d4b9d0ce79e6ad3f695
https://pubmed.ncbi.nlm.nih.gov/23709754
https://pubmed.ncbi.nlm.nih.gov/23709754
Autor:
Gabriella Csorba, László Maródi, Melinda Erdős, Beáta Tóth, Adrien Katalin Sarkadi, Szilvia Taskó
Publikováno v:
Journal of clinical immunology. 34(2)
The relative roles of various autoantibodies against IL-17-type cytokines in susceptibility to chronic mucocutaneous candidiasis (CMC) in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) remain poorly defined. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fcc8f41d7a15cb747fb86d9a00c0840
https://pubmed.ncbi.nlm.nih.gov/24493573
https://pubmed.ncbi.nlm.nih.gov/24493573
Autor:
Juha Kere, Istvan Balogh, Ghassan Dbaibo, László Maródi, Gabriella Csorba, Éva Rákóczi, André Mégarbané, Beáta Tóth, Zoltan Magyarics, Melinda Erdos, Ingegerd Fransson, Lennart Hammarström, Carlo Akatcherian, Gérard Lefranc, Éva Rajnavölgyi, Beata Derfalvi, Anna Szaflarska, Hong Jiao
Publikováno v:
Molecular Immunology
Molecular Immunology, Elsevier, 2008, 46 (1), pp.202-206. ⟨10.1016/j.molimm.2008.07.001⟩
Publons
Molecular Immunology, Elsevier, 2008, 46 (1), pp.202-206. ⟨10.1016/j.molimm.2008.07.001⟩
Publons
We performed clinical, immunological and genetic studies of 12 hyper-IgE syndrome (HIES) patients from 4 Hungarian, 2 Lebanese, one Russian, one Polish, and one Swedish families with autosomal dominant (AD) or sporadic forms of the disease to reveal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a846461a0f99a61df13a65f3b670eb6f