Dóra Nagy
University of Szeged
13 Papers
23 Citations
Dóra Nagy is an academic researcher from University of Szeged. The author has contributed to research in topics: Copy-number variation & Medicine. The author has an hindex of 4, co-authored 11 publications.
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Papers
Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis.
Kornélia Tripolszki,Bernadett Csányi,Dóra Nagy,Antonia Ratti,Cinzia Tiloca,Vincenzo Silani,Éva Margit Kereszty,Nóra Török,László Vécsei,József I. Engelhardt,Péter Klivényi,Nikoletta Nagy,Márta Széll +12 more
TL;DR: This study represents the first genetic analysis of 2 major ALS causative genes in a cohort of Hungarian ALS patients and contributes to the further understanding of the genetic and phenotypic diversity of ALS.
22
Skin wipe test: A simple, inexpensive, and fast approach in the diagnosis of cystic fibrosis
Pavol Ďurč,František Foret,Lukáš Homola,Miriam Malá,Eva Pokojová,Hana Vinohradská,Milan Dastych,Dagmar Krausová,Dóra Nagy,Olga Bede,Pavel Dřevínek,Veronika Skalická,Petr Kubáň +12 more
TL;DR: To assess the performance of a newly developed skin wipe test (SWT) for the diagnosis of cystic fibrosis (CF), a large number of patients with a history of CF are surveyed for the first time.
Angiogenin mutations in Hungarian patients with amyotrophic lateral sclerosis: Clinical, genetic, computational, and functional analyses.
Kornélia Tripolszki,Judit Danis,Aditya K. Padhi,James Gomes,Renáta Bozó,Zsófia Flóra Nagy,Dóra Nagy,Péter Klivényi,József I. Engelhardt,Márta Széll +9 more
TL;DR: The majority of disease‐causing mutations of ANG result in loss of either ribonucleolytic activity, nuclear translocation activity or both.
12
Further delineation of the phenotype of PAK3-associated x-linked intellectual disability: Identification of a novel missense mutation and review of literature.
Dóra Nagy,Katalin Farkas,Lluís Armengol,Maria Segura,Gloria Kafui Esi Zodanu,Bernadett Csányi,Alíz Zimmermann,Barbara Vámos,Márta Széll +8 more
TL;DR: The first case of a Hungarian patient with intellectual disability associated with a novel PAK3 mutation is reported, and the cases previously described in the literature are reviewed.
5
A Gorlin–Goltz-szindróma genetikai aspektusai
TL;DR: Gorlin-Goltz syndrome, or nevoid basal cell carcinoma syndrome, is a rare disease that requires multidisciplinary approach in patient management and is genetically heterogenous and has an extremely variable expressivity.