@article{MTMT:33221325, title = {Mi kell a diagnózis megszületéséhez?}, url = {https://m2.mtmt.hu/api/publication/33221325}, author = {Gaál, Magdolna and Mihályi, Lilla and Gál, Brigitta and Paschali, Ekaterine}, journal-iso = {BVSZ}, journal = {BŐRGYÓGYÁSZATI ÉS VENEROLÓGIAI SZEMLE}, volume = {95}, unique-id = {33221325}, issn = {0006-7768}, year = {2019}, eissn = {2064-261X}, pages = {256-256}, orcid-numbers = {Mihályi, Lilla/0000-0001-6215-4572} } @article{MTMT:30729349, title = {A nyiroködéma és a vénás lábszárfekélyek kóreredetének és kezelési lehetőségeinek legújabb vonatkozásai}, url = {https://m2.mtmt.hu/api/publication/30729349}, author = {Szolnoky, Győző and Erős, Gábor and Degovics, Döníz and Németh, István Balázs and Kui, Róbert and Paschali, Ekaterine and Vasas, Judit and Korom, Eszter and Varga, Mónika and Kemény, Lajos}, doi = {10.7188/bvsz.2019.95.2.6}, journal-iso = {BVSZ}, journal = {BŐRGYÓGYÁSZATI ÉS VENEROLÓGIAI SZEMLE}, volume = {95}, unique-id = {30729349}, issn = {0006-7768}, year = {2019}, eissn = {2064-261X}, pages = {65-68}, orcid-numbers = {Szolnoky, Győző/0000-0002-5391-4426; Kemény, Lajos/0000-0002-2119-9501} } @article{MTMT:30729346, title = {Új terápiás lehetőségek a gyulladásos bőrbetegségek kezelésében}, url = {https://m2.mtmt.hu/api/publication/30729346}, author = {Kui, Róbert and Paschali, Ekaterine and Kovács, Réka and Gaál, Magdolna and Baltás, Eszter and Kemény, Lajos}, doi = {10.7188/bvsz.2019.95.2.5}, journal-iso = {BVSZ}, journal = {BŐRGYÓGYÁSZATI ÉS VENEROLÓGIAI SZEMLE}, volume = {95}, unique-id = {30729346}, issn = {0006-7768}, year = {2019}, eissn = {2064-261X}, pages = {60-64}, orcid-numbers = {Baltás, Eszter/0000-0003-0357-7393; Kemény, Lajos/0000-0002-2119-9501} } @article{MTMT:3388448, title = {A vénás lábszárfekélyhez társuló nyirokkeringési zavar és a kompressziós terápia ismérvei}, url = {https://m2.mtmt.hu/api/publication/3388448}, author = {Szolnoky, Győző and Kui, Róbert and Paschali, Ekaterine and Vasas, J and Korom, E and Varga, M and Kemény, Lajos}, doi = {10.7188/bvsz.2018.94.2.4}, journal-iso = {BVSZ}, journal = {BŐRGYÓGYÁSZATI ÉS VENEROLÓGIAI SZEMLE}, volume = {94}, unique-id = {3388448}, issn = {0006-7768}, year = {2018}, eissn = {2064-261X}, pages = {88-92}, orcid-numbers = {Szolnoky, Győző/0000-0002-5391-4426; Kemény, Lajos/0000-0002-2119-9501} } @article{MTMT:3178944, title = {Hímvessző in situ carcinomája}, url = {https://m2.mtmt.hu/api/publication/3178944}, author = {Paschali, Ekaterine and Gaál, Magdolna and Varga, Erika and Korom, Irma and Kemény, Lajos}, journal-iso = {BVSZ}, journal = {BŐRGYÓGYÁSZATI ÉS VENEROLÓGIAI SZEMLE}, volume = {92}, unique-id = {3178944}, issn = {0006-7768}, year = {2016}, eissn = {2064-261X}, pages = {280}, orcid-numbers = {Kemény, Lajos/0000-0002-2119-9501} } @article{MTMT:2770124, title = {Mellkasfali lymphoedemát okozó primer mediastinalis nagy B-sejtes lymphoma [Thoracic lymphoedema caused by primary mediastinal large B-cell lymphoma]}, url = {https://m2.mtmt.hu/api/publication/2770124}, author = {Bottyán, Krisztina and Paschali, Ekaterine and Varga, Erika and Korom, Irma and Németh, István Balázs and Németh, Réka and Piukovics, Klára and Oláh, Judit Magdolna}, doi = {10.7188/bvsz.2014.90.4.8}, journal-iso = {BVSZ}, journal = {BŐRGYÓGYÁSZATI ÉS VENEROLÓGIAI SZEMLE}, volume = {90}, unique-id = {2770124}, issn = {0006-7768}, year = {2014}, eissn = {2064-261X}, pages = {169-172}, orcid-numbers = {Piukovics, Klára/0000-0003-4480-3131} } @article{MTMT:2708587, title = {Papillon-Lefévre szindróma előfordulása testvérpárban}, url = {https://m2.mtmt.hu/api/publication/2708587}, author = {Paschali, Ekaterine and Papp, F and Vályi, Péter and Nagy, Nikoletta and Kemény, Lajos and Csoma, Zsanett}, journal-iso = {GYERMEKGYÓGYÁSZAT}, journal = {GYERMEKGYÓGYÁSZAT}, volume = {65}, unique-id = {2708587}, issn = {0017-5900}, year = {2014}, pages = {230-230}, orcid-numbers = {Vályi, Péter/0000-0002-9594-2038; Kemény, Lajos/0000-0002-2119-9501; Csoma, Zsanett/0000-0003-0376-9061} } @article{MTMT:2560415, title = {CTSC and Papillon–Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update}, url = {https://m2.mtmt.hu/api/publication/2560415}, author = {Nagy, Nikoletta and Vályi, Péter and Csoma, Zsanett and Sulák, Adrienn and Tripolszki, Kornélia and Farkas, Katalin and Paschali, Ekaterine and Papp, Ferenc and Tóth, Lola and Fábos, Beáta and Kemény, Lajos and Nagy, Katalin and Széll, Márta}, doi = {10.1002/mgg3.61}, journal-iso = {MOL GENET GENOM MED}, journal = {MOLECULAR GENETICS AND GENOMIC MEDICINE}, volume = {2}, unique-id = {2560415}, issn = {2324-9269}, year = {2014}, eissn = {2324-9269}, pages = {217-228}, orcid-numbers = {Vályi, Péter/0000-0002-9594-2038; Csoma, Zsanett/0000-0003-0376-9061; Tripolszki, Kornélia/0000-0002-7734-1992; Kemény, Lajos/0000-0002-2119-9501; Nagy, Katalin/0000-0001-9383-5952; Széll, Márta/0000-0002-0730-714X} } @article{MTMT:2236422, title = {A novel seven-base deletion of the CTSC gene identified in a Hungarian family with Papillon-Lefèvre syndrome}, url = {https://m2.mtmt.hu/api/publication/2236422}, author = {Farkas, Katalin and Paschali, Ekaterine and Papp, Ferenc and Vályi, Péter and Széll, Márta and Kemény, Lajos and Nagy, Nikoletta and Csoma, Zsanett}, doi = {10.1007/s00403-013-1323-z}, journal-iso = {ARCH DERMATOL RES}, journal = {ARCHIVES OF DERMATOLOGICAL RESEARCH}, volume = {305}, unique-id = {2236422}, issn = {0340-3696}, abstract = {Papillon-Lefevre syndrome (PLS; OMIM 245000) is a rare autosomal recessive condition characterized by symmetrical palmoplantar hyperkeratosis and periodontal inflammation, causing loss of both the deciduous and permanent teeth. PLS develops due to mutations in the cathepsin C gene, CTSC. Recently we have identified a Hungarian PLS family with two affected siblings. Direct sequencing of the coding regions of the CTSC gene revealed a novel seven-base deletion leading to frameshift and early stop codon in the fourth exon of the CTSC gene (c.681delCATACAT, p.T188fsX199). The affected family members carried the mutation in homozygous form, while the clinically unaffected family members carried the mutation in heterozygous form. The unrelated controls carried only the wild type sequence. In this paper we report a novel homozygous deletion of seven bases on the CTSC gene leading to the development of PLS. Since consanguineous marriage was unknown in the investigated family, the presence of the homozygous seven-base deletion of the CTSC gene may suggest that the parents are close relatives.}, year = {2013}, eissn = {1432-069X}, pages = {453-455}, orcid-numbers = {Vályi, Péter/0000-0002-9594-2038; Széll, Márta/0000-0002-0730-714X; Kemény, Lajos/0000-0002-2119-9501; Csoma, Zsanett/0000-0003-0376-9061} } @article{MTMT:2234739, title = {Papillon-Lefévre szindróma előfordulása testvérpárban.}, url = {https://m2.mtmt.hu/api/publication/2234739}, author = {Paschali, Ekaterine and Papp, F and Vályi, Péter and Nagy, Nikoletta and Kemény, Lajos and Csoma, Zsanett}, journal-iso = {BVSZ}, journal = {BŐRGYÓGYÁSZATI ÉS VENEROLÓGIAI SZEMLE}, volume = {88}, unique-id = {2234739}, issn = {0006-7768}, year = {2012}, eissn = {2064-261X}, pages = {184}, orcid-numbers = {Vályi, Péter/0000-0002-9594-2038; Kemény, Lajos/0000-0002-2119-9501; Csoma, Zsanett/0000-0003-0376-9061} }