Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Márta Csikós"'
Publikováno v:
Journal of dermatological science, 38(3), 231-234
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a28b23449d9bdfe0821bd1bc30b28a54
https://doi.org/10.1016/j.jdermsci.2005.03.005
https://doi.org/10.1016/j.jdermsci.2005.03.005
Autor:
Zsuzsanna Szalai, Krisztina Becker, Attila Horváth, Márta Csikós, Sarolta Kárpáti, Imre Schneider, Bela Sebök
Publikováno v:
Experimental Dermatology. 13:185-191
Mutations in genes keratin 5 (KRT5) and 14 (KRT14) encoding the basal type keratin intermediate filaments have been identified in epidermolysis bullosa simplex (EBS) families and are likely to cause skin fragility. Three novel keratin 14 mutations in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5a724233d978ada9ed05c1ffe2868e7b
https://doi.org/10.1111/j.0906-6705.2004.0120.x
https://doi.org/10.1111/j.0906-6705.2004.0120.x
Publikováno v:
Experimental Dermatology. 12:324-329
Congenital ichthyosiform erythroderma (CIE) belongs together with lamellar ichthyosis (LI) to the group of autosomal recessive congenital ichthyoses (ARCI). Mutations in the transglutaminase (TGase) 1 gene (TGM1) have been identified in several famil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4010e158e85c2a26ce67d837361c6bd7
https://doi.org/10.1034/j.1600-0625.2003.120313.x
https://doi.org/10.1034/j.1600-0625.2003.120313.x
Autor:
H I Szocs, Sarolta Kárpáti, Z. Orosz, L. Bruckner-Tuderman, Gyula Bottlik, Judit Hársing, É Török, Márta Csikós, Zsuzsanna Szalai, Z. Rozgonyi, Anikó Horváth
Publikováno v:
Clinical and Experimental Dermatology. 28:163-166
Summary A 25-year-old woman with Hallopeau−Siemens recessive dystrophic epidermolysis bullosa had generalized blistering, scarring and milia since birth. In the course of the disease, acral pseudosyndactyly developed, and the patient suffered from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3fd4ff003f6c21ac13cfd1896a35a06a
https://doi.org/10.1046/j.1365-2230.2003.01185.x
https://doi.org/10.1046/j.1365-2230.2003.01185.x
Publikováno v:
Experimental Dermatology. 10:286-289
The X-linked dominant Conradi-Hunermann-Happle (CDPX2, MIM 302960) syndrome belongs to the rare, heterogeneous group of diseases called chondrodysplasia punctata. The disease has been connected recently with deficiency of 3beta-hydroxysteroid-Delta8-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e90219cf1286c4f743aba008558571dd
https://doi.org/10.1034/j.1600-0625.2001.100409.x
https://doi.org/10.1034/j.1600-0625.2001.100409.x
Autor:
W. Beckert, Kazuko C. Sato-Matsumura, Daisuke Sawamura, Johann W. Bauer, Veli-Matti Kähäri, Markku Kallajoki, Atte Kivisaari, R Konigova, F. Weber, Hiroshi Shimizu, John A. McGrath, Márta Csikós, Tuomas Mirtti, K Sinemus
Publikováno v:
The British journal of dermatology. 158(4)
Summary Background Patients with recessive dystrophic epidermolysis bullosa (RDEB) have an increased risk of developing rapidly progressive and metastatic cutaneous squamous cell carcinomas (SCC). It is unclear why these SCC behave more aggressively
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d98ec9aa65fc736cb0d47bf3ebeed6b0
https://pubmed.ncbi.nlm.nih.gov/18284387
https://pubmed.ncbi.nlm.nih.gov/18284387
Autor:
Sarolta Kárpáti, Nicolas Hunzelmann, Mats Paulsson, Ulrich Töx, Márta Csikós, Erika Tomsits, Klaudia Preisz, Zoltán Kornseé, Miklós Sárdy, Neil Smyth, Christof Geisen, Jörgen Wieslander
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 376(1-2)
Background Our aim was to understand why some sera from patients with a broad spectrum of autoimmune diseases or non-autoimmune diseases involving enhanced apoptosis, cell lysis and/or putative secondary autoimmune processes show reactions in the tis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7837b0f9ed1f6bde666ed37508d9fd9
https://pubmed.ncbi.nlm.nih.gov/16987503
https://pubmed.ncbi.nlm.nih.gov/16987503
Publikováno v:
Clinical and Experimental Dermatology, 30(5), 575-577. Wiley-Blackwell
Benign familial chronic pemphigus (Hailey-Hailey disease, HHD) is a rare hereditary condition characterized by development of blisters at sites of friction and in the intertriginous areas. Mutations in the ATP2C1 gene, which encodes the human secreto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eae33b4de940fc29a011d367dd86ad24
https://pubmed.ncbi.nlm.nih.gov/16045696
https://pubmed.ncbi.nlm.nih.gov/16045696
Autor:
H I Szocs, Sarolta Kárpáti, Attila Horváth, A Lászik, Márta Csikós, S. Mecklenbeck, Leena Bruckner-Tuderman
Publikováno v:
The British journal of dermatology. 152(5)
Summary Background Mutations in the type VII collagen gene (COL7A1) are responsible for dominant and recessive forms of dystrophic epidermolysis bullosa (DEB). These mutations are usually specific for individual families; only a few cases of recurrin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d16f952baaafbedf8e15395a7459146
https://pubmed.ncbi.nlm.nih.gov/15888141
https://pubmed.ncbi.nlm.nih.gov/15888141
Autor:
Sarolta Kárpáti, Evelin Katona, Márta Csikós, Charalampos Aslanidis, Gerd Schmitz, György Paragh, Éva Remenyik
Summary Background: Pseudoxanthoma elasticum (PXE) is an inherited systemic disorder, characterized by dermal, ocular and cardiovascular lesions. Genetic defects of the ABCC6 (MRP6) transporter are known to cause PXE. Objectives: The purpose of this
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fca1f1e97f33f003751f935a665ef680
