All Stories

  1. A Novel Germline Frameshift Variant in the Tumor Suppressor Gene OBSCN in a Melanoma Patient

    Article • International Journal of Molecular Sciences, October 2025, MDPI AG

    Nikoletta Nagy

  2. Truncating CYLD Pathogenic Variants in CYLD Cutaneous Syndrome Distinctly Influence CYLD Proteostasis and NF-κB Signaling

    Article • Journal of Investigative Dermatology, August 2025, Elsevier

    Nikoletta Nagy

  3. Timely recognition of a probably life-threatening genodermatosis: familial case report of hereditary leiomyomatosis and renal cell cancer

    Article • Pathology & Oncology Research, April 2025, Frontiers

    Nikoletta Nagy

  4. Novel Pathogenic Variant of the TRRAP Gene Detected in a Hungarian Family with Autosomal Dominant Non-Syndromic Hearing Loss

    Article • International Journal of Molecular Sciences, February 2025, MDPI AG

    Nikoletta Nagy

  5. Novel Pathogenic Variant of the TRRAP Gene Detected in a Hungarian Family with Autosomal Dominant Non-Syndromic Hearing Loss

    Article • January 2025, MDPI AG

    Nikoletta Nagy

  6. Novel FANCI and RAD54B Variants and the Observed Clinical Outcomes in a Hungarian Melanoma Cohort

    Article • International Journal of Molecular Sciences, December 2024, MDPI AG

    Nikoletta Nagy

  7. Novel Variants in Medium and Low Penetrance Predisposing Genes in a Hungarian Malignant Melanoma Cohort With Increased Risk

    Article • Pigment Cell & Melanoma Research, November 2024, Wiley

    Nikoletta Nagy

  8. Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease

    Article • International Journal of Molecular Sciences, January 2024, MDPI AG

    Nikoletta Nagy

  9. A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder

    Article • BMC Pediatrics, January 2024, Springer Science + Business Media

    Nikoletta Nagy

  10. Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNS

    Article • Current Issues in Molecular Biology, June 2023, MDPI AG

    Nikoletta Nagy

  11. Genetic Etiology of Nonsyndromic Hearing Loss in Hungarian Patients

    Article • International Journal of Molecular Sciences, April 2023, MDPI AG

    Nikoletta Nagy

  12. Homozygous ITGA3 Missense Mutation in Adults in a Family with Syndromic Epidermolysis Bullosa (ILNEB) without Pulmonary Involvement

    Article • Journal of Investigative Dermatology, November 2021, Elsevier

    Nikoletta Nagy

  13. Genetic Testing in CYLD Cutaneous Syndrome: An Update

    Article • The Application of Clinical Genetics, October 2021, Taylor & Francis

    Nikoletta Nagy

  14. Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype

    Article • Life, June 2021, MDPI AG

    Nikoletta Nagy

  15. TRAF3 and NBR1 both influence the effect of the disease‐causing CYLD(Arg936X) mutation on NF‐κB activity

    Article • Experimental Dermatology, May 2021, Wiley

    Nikoletta Nagy

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

    Article • Experimental Dermatology, August 2020, Wiley

    Nikoletta Nagy

  17. 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

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

    Article • December 2019, Research Square

    Nikoletta Nagy

  19. 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

  20. 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

  21. Brooke–Spiegler Syndrome: Two Patients From a Turkish Family With Multiple Familial Trichoepithelioma

    Article • American Journal of Dermatopathology, October 2019, Wolters Kluwer Health

    Nikoletta Nagy

  22. 304 Identification of putative genetic modifying factors influencing the development of Papillon-Lefévre or Haim-Munk syndrome phenotypes

    Article • Journal of Investigative Dermatology, September 2019, Elsevier

    Nikoletta Nagy

  23. 305 Putative phenotype modifying genetic factors associated with phenotypic diversity in Brooke-Spiegler syndrome

    Article • Journal of Investigative Dermatology, September 2019, Elsevier

    Nikoletta Nagy

  24. The management and genetic background of pityriasis rubra pilaris: a single‐centre experience

    Article • Journal of the European Academy of Dermatology and Venereology, March 2019, Wiley

    Nikoletta Nagy

  25. A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature

    Article • Journal of Applied Genetics, February 2019, Springer Science + Business Media

    Nikoletta Nagy

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

    Article • BMC Pediatrics, January 2019, Springer Science + Business Media

    Nikoletta Nagy

  27. Consequences of cathepsin C inactivation for membrane exposure of proteinase 3, the target antigen in autoimmune vasculitis

    Article • Journal of Biological Chemistry, August 2018, Elsevier

    Nikoletta Nagy

  28. Nuclear Factor κB Activation in a Type V Pityriasis Rubra Pilaris Patient Harboring Multiple CARD14 Variants

    Article • Frontiers in Immunology, July 2018, Frontiers

    Nikoletta Nagy

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

    Article • Dermatologica Sinica, June 2018, Elsevier

    Nikoletta Nagy

  30. 472 CARD14 variants in pityriasis rubra pilaris

    Article • Journal of Investigative Dermatology, May 2018, Elsevier

    Nikoletta Nagy

  31. 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

  32. 233 Identification of genetic modifying factors responsible for the development of the distinct Papillon-Lefévre syndrome and Haim-Munk syndrome clinical phenotypes

    Article • Journal of Investigative Dermatology, October 2017, Elsevier

    Nikoletta Nagy

  33. 318 The functional characterization of CARD14 variants in pityriasis rubra pilaris affected skin and keratinocytes

    Article • Journal of Investigative Dermatology, October 2017, Elsevier

    Nikoletta Nagy

  34. A nagyobb méretű géndeletiók jelentősége a sclerosis tuberosa diagnosztikájában: az első magyar esetek bemutatása

    Article • Orvosi Hetilap, July 2017, Akademiai Kiado

    Nikoletta Nagy

  35. Delineating the genetic heterogeneity of OCA in Hungarian patients

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

    Nikoletta Nagy

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

    Article • Clinical and Experimental Dermatology, June 2017, Wiley

    Nikoletta Nagy

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

    Article • Neurobiology of Aging, May 2017, Elsevier

    Nikoletta Nagy

  38. 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

  39. 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

  40. Electrochemotherapy for Non-melanoma Skin Cancer in a Child with Xeroderma Pigmentosum

    Article • Acta Dermato Venereologica, January 2017, Acta Dermato-Venereologica

    Nikoletta Nagy

  41. Epidermolyticus ichthyosis

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

    Nikoletta Nagy

  42. Pharmacological Targeting of the Epidermal Barrier

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

    Nikoletta Nagy

  43. 168 Genetic investigations in the CYLD mutation-caused disease spectrum

    Article • Journal of Investigative Dermatology, September 2016, Elsevier

    Nikoletta Nagy

  44. 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

  45. 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

  46. 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

  47. Analysis of urinary cathepsin C for diagnosing Papillon–Lefèvre syndrome

    Article • European Journal of Biochemistry, January 2016, Wiley

    Nikoletta Nagy

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

    Article • Archives of Dermatological Research, September 2015, Springer Science + Business Media

    Nikoletta Nagy

  49. The clinical manifestations of two novel SPAST mutations

    Article • Clinical Neurology and Neurosurgery, September 2015, Elsevier

    Nikoletta Nagy

  50. One mutation, two phenotypes: a single nonsense mutation of theCTSCgene causes two clinically distinct phenotypes

    Article • Clinical and Experimental Dermatology, July 2015, Oxford University Press (OUP)

    Nikoletta Nagy

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

    Article • Orvosi Hetilap, June 2015, Akademiai Kiado

    Nikoletta Nagy

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

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

    Nikoletta Nagy

  53. Multiple familial trichoepithelioma: Report of a Spanish family associated with a mutation in the CYLD gene

    Article • Journal of the American Academy of Dermatology, May 2015, Elsevier

    Nikoletta Nagy

  54. Knowledge explosion for monogenic skin diseases

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

    Nikoletta Nagy

  55. Identification of Two Novel Mutations in the SLC45A2 Gene in a Hungarian Pedigree Affected by Unusual OCA Type 4

    Article • Hereditary Genetics, January 2015, OMICS Publishing Group

    Nikoletta Nagy

  56. MicroRNA-146a alleviates chronic skin inflammation in atopic dermatitis through suppression of innate immune responses in keratinocytes

    Article • Journal of Allergy and Clinical Immunology, October 2014, Elsevier

    Nikoletta Nagy

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

    Article • Orvosi Hetilap, August 2014, Akademiai Kiado

    Nikoletta Nagy

  58. 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

  59. Ulcus vulvae acutum Lipschütz in two young female patients

    Article • European Journal of Dermatology, May 2014, John Libbey Eurotext

    Nikoletta Nagy

  60. CTSC and Papillon-Lefevre syndrome

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

    Nikoletta Nagy

  61. Nemaline Myopathy Type 2 (NEM2)

    Article • Journal of Child Neurology, September 2013, SAGE Publications

    Nikoletta Nagy

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

    Article • Archives of Dermatological Research, August 2013, Springer Science + Business Media

    Nikoletta Nagy

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

    Article • Archives of Dermatological Research, February 2013, Springer Science + Business Media

    Nikoletta Nagy

  64. A Mutational Hotspot in CYLD Causing Cylindromas: A Comparison of Phenotypes Arising in Different Genetic Backgrounds

    Article • Acta Dermato Venereologica, January 2013, Acta Dermato-Venereologica

    Nikoletta Nagy

  65. Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases

    Article • Molecular Cytogenetics, January 2013, Springer Science + Business Media

    Nikoletta Nagy

  66. A novel missense mutation of the CYLD gene identified in a Hungarian family with Brooke–Spiegler syndrome

    Article • Experimental Dermatology, November 2012, Wiley

    Nikoletta Nagy

  67. A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna Hereditary Hypotrichosis 1 including limb deformities

    Article • Archives of Dermatological Research, May 2012, Springer Science + Business Media

    Nikoletta Nagy

  68. Mechanisms of IFN-γ–induced apoptosis of human skin keratinocytes in patients with atopic dermatitis

    Article • Journal of Allergy and Clinical Immunology, May 2012, Elsevier

    Nikoletta Nagy

  69. MiR‐21 is up‐regulated in psoriasis and suppresses T cell apoptosis

    Article • Experimental Dermatology, March 2012, Wiley

    Nikoletta Nagy

  70. Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome

    Article • The American Journal of Human Genetics, March 2012, Elsevier

    Nikoletta Nagy

  71. Successful Treatment of Multiple Basaliomas with Bleomycin-based Electrochemotherapy: A Case Series of Three Patients with Gorlin-Goltz Syndrome

    Article • Acta Dermato Venereologica, January 2012, Acta Dermato-Venereologica

    Nikoletta Nagy

  72. HB-EGF induces COL7A1 expression

    Article • Journal of Investigative Dermatology, August 2011, Elsevier

    Nikoletta Nagy

  73. MiR-125b, a MicroRNA Downregulated in Psoriasis, Modulates Keratinocyte Proliferation by Targeting FGFR2

    Article • Journal of Investigative Dermatology, July 2011, Elsevier

    Nikoletta Nagy

  74. Intra-familial Variability of Ectodermal Defects Associated with WNT10A Mutations

    Article • Acta Dermato Venereologica, January 2011, Acta Dermato-Venereologica

    Nikoletta Nagy

  75. Strontium Ranelate-induced DRESS Syndrome with Persistent Autoimmune Hepatitis

    Article • Acta Dermato Venereologica, January 2011, Acta Dermato-Venereologica

    Nikoletta Nagy

  76. Revertant Mosaicism

    Article • Journal of Investigative Dermatology, July 2010, Elsevier

    Nikoletta Nagy

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

    Article • Journal of Dermatological Science, June 2010, Elsevier

    Nikoletta Nagy

  78. Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio‐type poikiloderma with neutropenia

    Article • American Journal of Medical Genetics Part A, May 2010, Wiley

    Nikoletta Nagy

  79. New perspective in immunotherapy: local imiquimod treatment

    Article • Orvosi Hetilap, May 2010, Akademiai Kiado

    Nikoletta Nagy

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

    Article • Australasian Journal of Dermatology, April 2010, Wiley

    Nikoletta Nagy

  81. The molecular skin pathology of familial primary localized cutaneous amyloidosis

    Article • Experimental Dermatology, April 2010, Wiley

    Nikoletta Nagy

  82. The anti‐apoptotic protein G1P3 is overexpressed in psoriasis and regulated by the non‐coding RNA, PRINS

    Article • Experimental Dermatology, February 2010, Wiley

    Nikoletta Nagy

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

    Article • Histopathology, January 2010, Wiley

    Nikoletta Nagy

  84. Common IL-31 Gene Haplotype Associated with Non-atopic Eczema is Not Implicated in Epidermolysis Bullosa Pruriginosa

    Article • Acta Dermato Venereologica, January 2010, Acta Dermato-Venereologica

    Nikoletta Nagy

  85. Recurrent European missense mutation in the F12 gene in a British family with type III hereditary angioedema

    Article • Journal of Dermatological Science, October 2009, Elsevier

    Nikoletta Nagy

  86. The altered expression of syndecan 4 in the uninvolved skin of venous leg ulcer patients may predispose to venous leg ulcer

    Article • Wound Repair and Regeneration, July 2008, Wiley

    Nikoletta Nagy

  87. The Arg160Trp Allele of Melanocortin‐1 Receptor Gene Might Protect Against Vitiligo†

    Article • Photochemistry and Photobiology, February 2008, Wiley

    Nikoletta Nagy

  88. Tumor Necrosis Factor-α −308 Polymorphism and Leg Ulceration – Possible Association with Obesity

    Article • Journal of Investigative Dermatology, July 2007, Elsevier

    Nikoletta Nagy

  89. The expression of keratinocyte growth factor receptor (FGFR2‐IIIb) correlates with the high proliferative rate of HaCaT keratinocytes

    Article • Experimental Dermatology, June 2006, Wiley

    Nikoletta Nagy

  90. Single Nucleotide Polymorphisms of the Fibroblast Growth Factor Receptor 2 Gene in Patients with Chronic Venous Insufficiency with Leg Ulcer

    Article • Journal of Investigative Dermatology, May 2005, Elsevier

    Nikoletta Nagy

  91. Optimal Adrenergic Support in Septic Shock Due to Peritonitis

    Article • Survey of Anesthesiology, February 2004, Wolters Kluwer Health

    Nikoletta Nagy

  92. EFFECTS OF PENTASTARCH RESUSCITATION IN SEPTIC SHOCK

    Article • Critical Care Medicine, December 1999, Wolters Kluwer Health

    Nikoletta Nagy