All Stories

  1. Identification of putative phenotype‐modifying genetic factors associated with phenotypic diversity in Brooke‐Spiegler syndrome

    Article • Experimental Dermatology, August 2020, Wiley

    Nikoletta Nagy

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

    Article • Clinical and Experimental Dermatology, March 2020, Wiley

    Nikoletta Nagy

  3. Identification of putative phenotype-modifying genetic factors associated with phenotypic diversity in Brooke-Spiegler syndrome

    Article • December 2019, Research Square

    Nikoletta Nagy

  4. A novel nonsense mutation of the CYLD gene in a Turkish family with multiple familial trichoepithelioma

    Article • Clinical and Experimental Dermatology, December 2019, Wiley

    Nikoletta Nagy

  5. A comparative analysis of national Olympic swimming team members’ and para-swimming team members’ psychological profiles

    Article • Cognition Brain Behavior An Interdisciplinary Journal, December 2019, Babes-Bolyai University

    Nikoletta Nagy, Professor Attila Szabo

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

    Article • Dermatologica Sinica, June 2018, Elsevier

    Nikoletta Nagy

  7. The rs13388259 Intergenic Polymorphism in the Genomic Context of theBCYRN1Gene Is Associated with Parkinson’s Disease in the Hungarian Population

    Article • Parkinson s Disease, January 2018, Hindawi Publishing Corporation

    Nikoletta Nagy, Professor László Vécsei

  8. Delineating the genetic heterogeneity of OCA in Hungarian patients

    Article • European Journal of Medical Research, June 2017, Springer Science + Business Media

    Nikoletta Nagy

  9. Atypical neurofibromatosis type 1 with unilateral limb hypertrophy mimicking overgrowth syndrome

    Article • Clinical and Experimental Dermatology, June 2017, Wiley

    Nikoletta Nagy

  10. Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis

    Article • Neurobiology of Aging, May 2017, Elsevier

    Nikoletta Nagy

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

    Article • Brain and Behavior, March 2017, Wiley

    Nikoletta Nagy

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

    Article • BMC Medical Genetics, March 2017, Springer Science + Business Media

    Nikoletta Nagy

  13. Epidermolyticus ichthyosis

    Article • Bőrgyógyászati és Venerológiai Szemle, November 2016, Hungarian Dermatological Society

    Nikoletta Nagy

  14. Pharmacological Targeting of the Epidermal Barrier

    Article • Current Pharmaceutical Design, November 2016, Bentham Science Publishers

    Nikoletta Nagy

  15. 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

    Article • Clinical Chemistry, April 2016, AACC

    Nikoletta Nagy

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

    Article • European Journal of Medical Genetics, April 2016, Elsevier

    Nikoletta Nagy

  17. 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

    Article • BMC Genetics, February 2016, Springer Science + Business Media

    Nikoletta Nagy

  18. A jéghegy csúcsa: multiplex faggyúmirigy-eredetű bőrtumor coloncarcinomában. Muir–Torre-szindróma

    Article • Orvosi Hetilap, June 2015, Akademiai Kiado

    Nikoletta Nagy

  19. CYLD and Brooke-Spiegler syndrome, familial cylindromatosis and thrichoeptheliomatosis

    Article • European Journal of Medical Genetics, May 2015, Elsevier

    Nikoletta Nagy

  20. Knowledge explosion for monogenic skin diseases

    Article • World Journal of Dermatology, January 2015, Baishideng Publishing Group Co., Limited (formerly WJG Press)

    Nikoletta Nagy

  21. Difficulties of genetic counselling in rare, mainly neurogenetic disorders

    Article • Orvosi Hetilap, August 2014, Akademiai Kiado

    Nikoletta Nagy

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

    Article • Journal of Medical Case Reports, June 2014, Springer Science + Business Media

    Nikoletta Nagy

  23. CTSC and Papillon-Lefevre syndrome

    Article • Molecular Genetics & Genomic Medicine, February 2014, Wiley

    Nikoletta Nagy

  24. HB-EGF induces COL7A1 expression

    Article • Journal of Investigative Dermatology, August 2011, Elsevier

    Nikoletta Nagy

  25. Revertant Mosaicism

    Article • Journal of Investigative Dermatology, July 2010, Elsevier

    Nikoletta Nagy

  26. Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation in WNT10A

    Article • Journal of Dermatological Science, June 2010, Elsevier

    Nikoletta Nagy

  27. New perspective in immunotherapy: local imiquimod treatment

    Article • Orvosi Hetilap, May 2010, Akademiai Kiado

    Nikoletta Nagy

  28. New insights into hereditary angio-oedema: Molecular diagnosis and therapy

    Article • Australasian Journal of Dermatology, April 2010, Wiley

    Nikoletta Nagy

  29. Blistering skin diseases: a bridge between dermatopathology and molecular biology

    Article • Histopathology, January 2010, Wiley

    Nikoletta Nagy