• 2042 Citations
  • 23 h-Index
1990 …2020

Research output per year

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Research Output

2020

Identification of putative genetic modifying factors that influence the development of Papillon–Lefévre or Haim–Munk syndrome phenotypes

Pap, M., Farkas, K., Tóth, L., Fábos, B., Széll, M., Németh, G. & Nagy, N., Jul 1 2020, In : Clinical and Experimental Dermatology. 45, 5, p. 555-559 5 p.

Research output: Contribution to journalArticle

Open Access
1 Citation (Scopus)
2019

Angiogenin mutations in Hungarian patients with amyotrophic lateral sclerosis: Clinical, genetic, computational, and functional analyses

Tripolszki, K., Danis, J., Padhi, A. K., Gomes, J., Bozó, R., Nagy, Z. F., Nagy, D., Klivényi, P., Engelhardt, J. I. & Széll, M., Jun 2019, In : Brain and Behavior. 9, 6, e01293.

Research output: Contribution to journalArticle

Open Access
3 Citations (Scopus)

Comprehensive genetic analysis of a Hungarian amyotrophic lateral sclerosis cohort

Tripolszki, K., Gampawar, P., Schmidt, H., Nagy, Z. F., Nagy, D., Klivényi, P., Engelhardt, J. I. & Széll, M., Jan 1 2019, In : Frontiers in Genetics. 10, JUL, 732.

Research output: Contribution to journalArticle

Open Access
2 Citations (Scopus)

Differential role of D cyclins in the regulation of cell cycle by influencing Ki67 expression in HaCaT cells

Belső, N., Gubán, B., Manczinger, M., Kormos, B., Bebes, A., Németh, I., Veréb, Z., Széll, M., Kemény, L. & Bata-Csörgő, Z., Jan 15 2019, In : Experimental Cell Research. 374, 2, p. 290-303 14 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Exosomal long non-coding RNAs as biomarkers in human diseases

Kelemen, E., Danis, J., Göblös, A., Bata-Csörgő, Z. & Széll, M., Jan 1 2019, In : Electronic Journal of the International Federation of Clinical Chemistry and Laboratory Medicine. 30, 2, p. 224-236 13 p.

Research output: Contribution to journalArticle

13 Citations (Scopus)

Experimental motor neuron disease induced in mice with long-term repeated intraperitoneal injections of serum from ALS patients

Obál, I., Nógrádi, B., Meszlényi, V., Patai, R., Ricken, G., Kovacs, G. G., Tripolszki, K., Széll, M., Siklós, L. & Engelhardt, J. I., May 2 2019, In : International journal of molecular sciences. 20, 10, 2573.

Research output: Contribution to journalArticle

Open Access
2 Citations (Scopus)

Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: A case report

Dávid, É., Török, D., Farkas, K., Nagy, N., Horváth, E., Kiss, Z., Oroszlán, G., Balogh, M. & Széll, M., Jan 11 2019, In : BMC pediatrics. 19, 1, 16.

Research output: Contribution to journalArticle

The management and genetic background of pityriasis rubra pilaris: a single-centre experience

Gál, B., Göblös, A., Danis, J., Farkas, K., Sulák, A., Varga, E., Nagy, N., Széll, M., Kemény, L. & Bata-Csörgő, Z., May 2019, In : Journal of the European Academy of Dermatology and Venereology. 33, 5, p. 944-949 6 p.

Research output: Contribution to journalArticle

2018

Analysis of psoriasis-relevant gene expression and exon usage alterations after silencing of SR-rich splicing regulators

Szlavicz, E., Olah, P., Szabo, K., Pagani, F., Bata-Csorgo, Z., Kemeny, L. & Szell, M., Jun 2018, In : Experimental Dermatology. 27, 6, p. 656-662 7 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Differential inflammatory-response kinetics of human keratinocytes upon cytosolic RNA- and DNA-fragment induction

Danis, J., Janovák, L., Gubán, B., Göblös, A., Szabó, K., Kemény, L., Bata-Csörgő, Z. & Széll, M., Mar 8 2018, In : International Journal of Molecular Sciences. 19, 3, 774.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene

Sulák, A., Tripolszki, K., Farkas, K., Széll, M. & Nagy, N., Jun 2018, In : Dermatologica Sinica. 36, 2, p. 89-92 4 p.

Research output: Contribution to journalArticle

The first reported case of trichothiodystrophy in Hungary: A young male patient with mutations in the ERCC2 gene

Veres, K., Nagy, N., Háromszéki, B., Solymosi, Á., Vass, V., Széll, M. & Szalai, Z. Z., Jan 1 2018, In : Acta Dermatovenerologica Croatica. 26, 2, p. 169-172 4 p.

Research output: Contribution to journalArticle

The rs13388259 intergenic polymorphism in the genomic context of the BCYRN1 gene is associated with Parkinson's disease in the hungarian population

Márki, S., Göblös, A., Szlávicz, E., Török, N., Balicza, P., Bereznai, B., Takáts, A., Engelhardt, J., Klivényi, P., Vécsei, L., Molnár, M. J., Nagy, N. & Széll, M., Jan 1 2018, In : Parkinson's Disease. 2018, 9351598.

Research output: Contribution to journalArticle

5 Citations (Scopus)
2017

A novel ‘splice site’ HCN4 Gene mutation, c.1737 + 1 G > T, causes familial bradycardia, reduced heart rate response, impaired chronotropic competence and increased short-term heart rate variability

Hategan, L., Csányi, B., Ördög, B., Kákonyi, K., Tringer, A., Kiss, O., Orosz, A., Sághy, L., Nagy, I., Hegedűs, Z., Rudas, L., Széll, M., Varró, A., Forster, T. & Sepp, R., Aug 15 2017, In : International Journal of Cardiology. 241, p. 364-372 9 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

Atypical neurofibromatosis type 1 with unilateral limb hypertrophy mimicking overgrowth syndrome

Tripolszki, K., Farkas, K., Sulák, A., Szolnoky, G., Duga, B., Melegh, B., Knox, R. G., Parker, V. E. R., Semple, R. K., Kemény, L., Széll, M. & Nagy, N., Oct 2017, In : Clinical and Experimental Dermatology. 42, 7, p. 763-766 4 p.

Research output: Contribution to journalArticle

Delineating the genetic heterogeneity of OCA in Hungarian patients

Fábos, B., Farkas, K., Tóth, L., Sulák, A., Tripolszki, K., Tihanyi, M., Németh, R., Vas, K., Csoma, Z., Kemény, L., Széll, M. & Nagy, N., Jun 19 2017, In : European journal of medical research. 22, 1, 20.

Research output: Contribution to journalArticle

1 Citation (Scopus)

Electrochemotherapy for non-melanoma skin cancer in a child with xeroderma pigmentosum

Baltás, E., Kis, E., Nagy, N., Sohár, N., Varga, E., Széll, M., Kemény, L. & Oláh, J., Sep 2017, In : Acta Dermato-Venereologica. 97, 8, p. 962-964 3 p.

Research output: Contribution to journalComment/debate

High-throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis

Tripolszki, K., Török, D., Goudenège, D., Farkas, K., Sulák, A., Török, N., Engelhardt, J. I., Klivényi, P., Procaccio, V., Nagy, N. & Széll, M., Apr 2017, In : Brain and Behavior. 7, 4, e00669.

Research output: Contribution to journalArticle

8 Citations (Scopus)

Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4

Tóth, L., Fábos, B., Farkas, K., Sulák, A., Tripolszki, K., Széll, M. & Nagy, N., Mar 15 2017, In : BMC Medical Genetics. 18, 1, 27.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Prins non-coding rna regulates nucleic acid-induced innate immune responses of human Keratinocytes

Danis, J., Göblös, A., Bata-Csörgó, Z., Kemény, L. & Széll, M., Aug 29 2017, In : Frontiers in immunology. 8, AUG, 1053.

Research output: Contribution to journalArticle

7 Citations (Scopus)

Splicing factors differentially expressed in psoriasis alter mRNA maturation of disease-associated EDA+ fibronectin

Szlavicz, E., Szabo, K., Groma, G., Bata-Csorgo, Z., Pagani, F., Kemeny, L. & Szell, M., Dec 1 2017, In : Molecular and Cellular Biochemistry. 436, 1-2, p. 189-199 11 p.

Research output: Contribution to journalArticle

7 Citations (Scopus)

VELUCT, a long non-coding RNA with an important cellular function despite low abundance

Danis, J. & Széll, M., Oct 1 2017, In : Journal of Thoracic Disease. 9, 10, p. 3638-3640 3 p.

Research output: Contribution to journalEditorial

2016

Abnormal regulation of fibronectin production by fibroblasts in psoriasis

Gubán, B., Vas, K., Balog, Z., Manczinger, M., Bebes, A., Groma, G., Széll, M., Kemény, L. & Bata-Csörgö, Z., Mar 1 2016, In : British Journal of Dermatology. 174, 3, p. 533-541 9 p.

Research output: Contribution to journalArticle

16 Citations (Scopus)

Analysis of urinary cathepsin C for diagnosing Papillon-Lefèvre syndrome

Hamon, Y., Legowska, M., Fergelot, P., Dallet-Choisy, S., Newell, L., Vanderlynden, L., Kord Valeshabad, A., Acrich, K., Kord, H., Charalampos, T., Morice-Picard, F., Surplice, I., Zoidakis, J., David, K., Vlahou, A., Ragunatha, S., Nagy, N., Farkas, K., Széll, M., Goizet, C. & 16 others, Schacher, B., Battino, M., Al Farraj Aldosari, A., Wang, X., Liu, Y., Marchand-Adam, S., Lesner, A., Kara, E., Korkmaz-Icöz, S., Moss, C., Eickholz, P., Taieb, A., Kavukcu, S., Jenne, D. E., Gauthier, F. & Korkmaz, B., Feb 1 2016, In : FEBS Journal. 283, 3, p. 498-509 12 p.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Cell-Free DNA analysis of targeted genomic regions in maternal plasma for non-invasive prenatal testing of trisomy 21, trisomy 18, trisomy 13, and fetal sex

Koumbaris, G., Kypri, E., Tsangaras, K., Achilleos, A., Mina, P., Neofytou, M., Velissariou, V., Christopoulou, G., Kallikas, I., González-Liñán, A., Benusiene, E., Latos-Bielenska, A., Marek, P., Santana, A., Nagy, N., Széll, M., Laudanski, P., Papageorgiou, E. A., Ioannides, M. & Patsalis, P. C., Jun 2016, In : Clinical chemistry. 62, 6, p. 848-855 8 p.

Research output: Contribution to journalArticle

24 Citations (Scopus)
8 Citations (Scopus)

One mutation, two phenotypes: A single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes

Sulák, A., Tóth, L., Farkas, K., Tripolszki, K., Fábos, B., Kemény, L., Vályi, P., Nagy, K., Nagy, N. & Széll, M., Mar 1 2016, In : Clinical and Experimental Dermatology. 41, 2, p. 190-195 6 p.

Research output: Contribution to journalArticle

9 Citations (Scopus)
18 Citations (Scopus)

Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly

Tripolszki, K., Knox, R., Parker, V., Semple, R., Farkas, K., Sulák, A., Horváth, E., Széll, M. & Nagy, N., Apr 1 2016, In : European Journal of Medical Genetics. 59, 4, p. 223-226 4 p.

Research output: Contribution to journalArticle

8 Citations (Scopus)

The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene

Farkas, K., Deák, B. K., Sánchez, L. C., Martínez, A. M. V., Corell, J. J. V., Botella, A. M., Benito, G. M., López, R. R., Vanecek, T., Kazakov, D. V., Kromosoeto, J. N. R., van den Ouweland, A. M. W., Varga, J., Széll, M. & Nagy, N., Feb 9 2016, In : BMC genetics. 17, 1 p.

Research output: Contribution to journalArticle

7 Citations (Scopus)
2015

A conserved linkage group on chromosome 6, the 8.1 ancestral haplotype, is a predisposing factor of chronic rhinosinusitis associated with nasal polyposis in aspirin-sensitive Hungarians

Szabó, K., Polyánka, H., Kiricsi, Á., Révész, M., Vóna, I., Szabó, Z., Bella, Z., Kadocsa, E., Kemény, L., Széll, M. & Hirschberg, A., Nov 2015, In : Human Immunology. 76, 11, p. 858-862 5 p.

Research output: Contribution to journalArticle

BRAFV600E mutation in cutaneous lesions of patients with adult Langerhans cell histiocytosis

Varga, E., Korom, I., Polyánka, H., Szabõ, K., Széll, M., Baltás, E., Bata-Csörgo, Z., Kemény, L. & Oláh, J., Jun 1 2015, In : Journal of the European Academy of Dermatology and Venereology. 29, 6, p. 1205-1211 7 p.

Research output: Contribution to journalArticle

15 Citations (Scopus)

JAK2 V617F, MPL, and CALR Mutations in Essential Thrombocythaemia and Major Thrombotic Complications: A Single-Institute Retrospective Analysis

Pósfai, É., Marton, I., Király, P. A., Kotosz, B., Kiss-László, Z., Széll, M. & Borbényi, Z., Jul 5 2015, In : Pathology and Oncology Research. 21, 3, p. 751-758 8 p.

Research output: Contribution to journalArticle

7 Citations (Scopus)

Nemaline myopathy type 2 (NEM2): Two novel mutations in the nebulin (NEB) Gene

Gajda, A., Horváth, E., Hortobágyi, T., Gergev, G., Szabó, H., Farkas, K., Nagy, N., Széll, M. & Sztriha, L., Apr 27 2015, In : Journal of Child Neurology. 30, 5, p. 627-630 4 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Phenotype-genotype correlations for clinical variants caused by CYLD mutations

Nagy, N., Farkas, K., Kemény, L. & Széll, M., May 1 2015, In : European Journal of Medical Genetics. 58, 5, p. 271-278 8 p.

Research output: Contribution to journalReview article

20 Citations (Scopus)

Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p.Tyr279Cys PTPN11 mutation

Nemes, E., Farkas, K., Kocsis-Deák, B., Drubi, A., Sulák, A., Tripolszki, K., Dósa, P., Ferenc, L., Nagy, N. & Széll, M., Dec 1 2015, In : Archives of Dermatological Research. 307, 10, p. 891-895 5 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)

The clinical manifestations of two novel SPAST mutations

Zádori, D., Máté, A., Róna-Vörös, K., Gergev, G., Zimmermann, A., Nagy, N., Széll, M., Vécsei, L., Sztriha, L. & Klivényi, P., Jul 10 2015, In : Clinical neurology and neurosurgery. 136, p. 82-85 4 p., 4068.

Research output: Contribution to journalArticle

3 Citations (Scopus)
2014

A newly identified missense mutation of the EDA1 gene in a Hungarian patient with Christ-Siemens-Touraine syndrome

Kinyó, Á., Vályi, P., Farkas, K., Nagy, N., Gergely, B., Tripolszki, K., Török, D., Bata-Csörgo, Z., Kemény, L. & Széll, M., Jan 1 2014, In : Archives of Dermatological Research. 306, 1, p. 97-100 4 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Ctsc and papillon–lefevre syndrome: Detection of recurrent mutations in hungarian patients, a review of published variants and database update

Nagy, N., Valyi, P., Csoma, Z., Sulak, A., Tripolszki, K., Farkas, K., Paschali, E., Papp, F., Toth, L., Fabos, B., Kemeny, L., Nagy, K. & Szell, M., Jan 1 2014, In : Molecular Genetics and Genomic Medicine. 2, 3, p. 217-228 12 p.

Research output: Contribution to journalArticle

Open Access
28 Citations (Scopus)

Genetic risk and protective factors of TNFSF15 gene variants detected using single nucleotide polymorphisms in Hungarians with psoriasis and psoriatic arthritis

Képíró, L., Széll, M., Kovács, L., Keszthelyi, P., Kemény, L. & Gyulai, R., Feb 1 2014, In : Human Immunology. 75, 2, p. 159-162 4 p.

Research output: Contribution to journalArticle

18 Citations (Scopus)

Identification of a novel missense GLRA1 gene mutation in hyperekplexia: A case report

Horváth, E., Farkas, K., Herczegfalvi, Á., Nagy, N. & Széll, M., Jun 26 2014, In : Journal of Medical Case Reports. 8, 1, 233.

Research output: Contribution to journalArticle

5 Citations (Scopus)

Regulatory networks contributing to psoriasis susceptibility

Szabó, K., Bata-Csörgö, Z., Dallos, A., Bebes, A., Francziszti, L., Dobozy, A., Kemény, L. & Széll, M., Jul 2014, In : Acta Dermato-Venereologica. 94, 4, p. 380-385 6 p.

Research output: Contribution to journalArticle

11 Citations (Scopus)

Rekurrens európai misszensz mutáció egy magyar Papillon-Lefèvre szindrómában szenvedő családban

Translated title of the contribution: [Recurrent European missense mutation in a Hungarian pedigree with Papillon-Lefèvre syndrome]Vályi, P., Farkas, K., Tripolszki, K., Sulák, A., Széll, M., Nagy, N. & Nagy, K., Sep 1 2014, In : Fogorvosi szemle. 107, 3, p. 87-92 6 p.

Research output: Contribution to journalArticle

Thrombosis and risk factors in female patients with a rare acquired thrombophilia: chronic myeloproliferative disorder - polycythaemia vera and essential thrombocythaemia

Pósfai, Marton, I., Kiss-László, Z., Kotosz, B., Széll, M. & Borbényi, Z., Jan 1 2014, In : European review for medical and pharmacological sciences. 18, 24, p. 3810-3818 9 p.

Research output: Contribution to journalArticle

1 Citation (Scopus)

UVB-dependent changes in the expression of fast-responding early genes is modulated by huCOP1 in keratinocytes

Fazekas, B., Polyánka, H., Bebes, A., Tax, G., Szabó, K., Farkas, K., Kinyó, Á., Nagy, F., Kemény, L., Széll, M. & Ádám, É., Nov 2014, In : Journal of Photochemistry and Photobiology B: Biology. 140, p. 215-222 8 p.

Research output: Contribution to journalArticle

2 Citations (Scopus)
2013

A mutational hotspot in CYLD causing cylindromas: A comparison of phenotypes arising in different genetic backgrounds

Nagy, N., Rajan, N., Farkas, K., Kinyó, Á., Kemény, L. & Széll, M., Oct 30 2013, In : Acta Dermato-Venereologica. 93, 6, p. 743-745 3 p.

Research output: Contribution to journalArticle

7 Citations (Scopus)

A novel seven-base deletion of the CTSC gene identified in a Hungarian family with Papillon-Lefèvre syndrome

Farkas, K., Paschali, E., Papp, F., Vályi, P., Széll, M., Kemény, L., Nagy, N. & Csoma, Z., Jul 1 2013, In : Archives of Dermatological Research. 305, 5, p. 453-455 3 p.

Research output: Contribution to journalArticle

4 Citations (Scopus)

Difference of interleukin-23 receptor gene haplotype variants in ulcerative colitis compared to Crohn's disease and psoriasis

Melegh, B., Safrany, E., Szabo, M., Szell, M., Kemeny, L., Sumegi, K., Melegh, B. I., Magyari, L., Matyas, P., Figler, M., Weber, A. & Tulassay, Z., Feb 1 2013, In : Inflammation Research. 62, 2, p. 195-200 6 p.

Research output: Contribution to journalArticle

20 Citations (Scopus)