Items where Author is " Tripolszki Kornélia"

Tripolszki Kornélia and Danis Judit and Padhi Aditya K. and Gomes James and Bozó Renáta and Nagy Zsófia F. and Nagy Dóra and Széll Márta and Klivényi Péter and Engelhardt József István and Széll Márta: Angiogenin mutations in Hungarian patients with amyotrophic lateral sclerosis: Clinical, genetic, computational, and functional analyses.
BRAIN AND BEHAVIOR, 9 (6). Terjedelem: 10 p.-Azonosító: e01293. ISSN 2162-3279 (2019)

Tripolszki Kornélia and Gampawar Piyush and Schmidt Helena and Nagy Zsófia F. and Nagy Dóra and Klivényi Péter: Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort.
FRONTIERS IN GENETICS, 10. Azonosító: 732-Terjedelem: 13 p. ISSN 1664-8021 (2019)

Obál Izabella and Nógrádi Bernát and Meszlényi Valéria and Patai Roland and Ricken Gerda and Kovács Gábor Géza and Tripolszki Kornélia and Széll Márta and Siklós László and Engelhardt József István: Experimental Motor Neuron Disease Induced in Mice with Long-Term Repeated Intraperitoneal Injections of Serum from ALS Patients.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 20 (10). Azonosító: E2573-Terjedelem: 24 p. ISSN 1661-6596 (2019)

Sulák Adrienn and Tripolszki Kornélia and Farkas Katalin and Széll Márta and Nagy Nikoletta: Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene.
DERMATOLOGICA SINICA, 36 (2). pp. 89-92. ISSN 1027-8117 (2018)

Tripolszki Kornélia and Farkas Katalin and Sulák Adrienn and Szolnoky Győző and Duga B. and Melegh Béla and Knox R. G. and Parker V. E. R. and Semple R. K. and Kemény Lajos and Széll Márta and Nagy Nikoletta: Atypical neurofibromatosis type 1 with unilateral limb hypertrophy mimicking overgrowth syndrome.
CLINICAL AND EXPERIMENTAL DERMATOLOGY, 42 (7). pp. 763-766. ISSN 0307-6938 (2017)

Fábos Beáta and Farkas Katalin and Tóth Lola and Sulák Adrienn and Tripolszki Kornélia and Tihanyi Marianna and Németh Réka and Vas Krisztina and Csoma Zsanett and Kemény Lajos and Széll Márta and Nagy Nikoletta: Delineating the genetic heterogeneity of OCA in Hungarian patients.
EUROPEAN JOURNAL OF MEDICAL RESEARCH, 22 (1). Terjedelem: 8 p.-Azonosító: 20. ISSN 0949-2321 (2017)

Tripolszki Kornélia and Csányi Bernadett and Nagy Dóra and Ratti Antonia and Tiloca Cinzia and Silani Vincenzo and Kereszty Éva Margit and Török Nóra and Vécsei László and Engelhardt József István and Klivényi Péter and Nagy Nikoletta and Széll Márta: Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis.
NEUROBIOLOGY OF AGING, 53. 195.e1-195.e5. ISSN 0197-4580 (2017)

Tripolszki Kornélia and Török Dóra and Goudenège David and Farkas Katalin and Sulák Adrienn and Török Nóra and Engelhardt József István and Klivényi Péter and Procaccio Vincent and Nagy Nikoletta and Széll Márta: High- throughput sequencing revealed a novel SETX mutation in a Hungarian patient with amyotrophic lateral sclerosis.
BRAIN AND BEHAVIOR, 7 (4). Terjedelem: 7 p.-Azonosító: e00669. ISSN 2162-3279 (2017)

Tóth Lola and Fábos Beáta and Farkas Katalin and Sulák Adrienn and Tripolszki Kornélia and Széll Márta and Nagy Nikoletta: Identification of two novel mutations in the SLC45A2 gene in a Hungarian pedigree affected by unusual OCA type 4.
BMC MEDICAL GENETICS, 18 (1). Terjedelem: 4 p.-Azonosító: 27. ISSN 1471-2350 (2017)

Tripolszki Kornélia and Knox Rahel and Parker Victoria and Semple Robert and Farkas Katalin and Sulák Adrienn and Horváth Emese and Széll Márta and Nagy Nikoletta: Somatic mosaicism of the PIK3CA gene identified in a Hungarian girl with macrodactyly and syndactyly.
EUROPEAN JOURNAL OF MEDICAL GENETICS, 59 (4). pp. 223-226. ISSN 1769-7212 (2016)

Sulák Adrienn and Tóth Lola and Farkas Katalin and Tripolszki Kornélia and Fábos Beáta and Kemény Lajos and Vályi Péter and Nagy Katalin and Nagy Nikoletta and Széll Márta: One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes.
CLINICAL AND EXPERIMENTAL DERMATOLOGY, 41 (2). pp. 190-195. ISSN 0307-6938 (2015)

Nemes Edina and Farkas Katalin and Kocsis-Deák Barbara and Drubi Andrea and Sulák Adrienn and Tripolszki Kornélia and Dósa Piroska and Ferenc Lakatos and Nagy Nikoletta and Széll Márta: Phenotypical diversity of patients with LEOPARD syndrome carrying the worldwide recurrent p.Tyr279Cys PTPN11 mutation.
Archives of Dermatological Research, 307 (10). pp. 891-895. ISSN 0340-3696 (2015)

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: CTSC and Papillon–Lefèvre syndrome: detection of recurrent mutations in Hungarian patients, a review of published variants and database update.
Molecular Genetics & Genomic Medicine, 2 (3). pp. 217-228. ISSN 2324-9269 (2014)

Vályi Péter and Farkas Katalin and Tripolszki Kornélia and Sulák Adrienn and Széll Márta and Nagy Nikoletta and Nagy Katalin: Rekurrens európai misszensz mutáció egy magyar Papillon-Lefévre szindrómában szenvedő családban.
Fogorvosi Szemle, 107 (3). pp. 87-92. ISSN 0015-5314 (2014)

Nagy Nikoletta and Farkas Katalin and Tripolszki Kornélia and Sulák Andrea and Kemény Lajos and Széll Márta: A cylindromatosis gén mutációi által okozott genodermatosisok.
Bőrgyógyászati és Venerológiai Szemle, 90 (5). pp. 185-193. ISSN 0006-7768 (2014)

Kinyó Ágnes and Vályi Péter and Farkas Katalin and Nagy Nikoletta and Gergely Brigitta and Tripolszki Kornélia and Török Dóra and Csörgő Sándorné Bata Zsuzsanna and Kemény Lajos and Széll Márta: A newly identified missense mutation of the EDA1 gene in a Hungarian patient with Christ–Siemens–Touraine syndrome.
Archives of Dermatological Research, 306 (1). pp. 97-100. ISSN 0340-3696 (2014)