Szerző: " Pál Margit"

Bokor Barbara Anna; Aliasgari Abdolreza; Pál Margit; Battyani Zita; Széll Márta; Nagy Nikoletta: A Novel Germline Frameshift Variant in the Tumor Suppressor Gene OBSCN in a Melanoma Patient.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 26 (21). ISSN 1661-6596 (2025)

Nagy Nikoletta; Szalenko-Tőkés Ágnes; Pál Margit; Bokor Barbara Anna; Nagy Roland; Jarabin János András; Rovó László; Széll Márta: Novel Pathogenic Variant of the TRRAP Gene Detected in a Hungarian Family with Autosomal Dominant Non-Syndromic Hearing Loss.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 26 (4). ISSN 1661-6596 (2025)

Bokor Barbara Anna; Aliasgari Abdolreza; Kaptás Flóra; Pál Margit; Battyáni Zita; Széll Márta; Nagy Nikoletta: Novel Variants in Medium and Low Penetrance Predisposing Genes in a Hungarian Malignant Melanoma Cohort With Increased Risk.
PIGMENT CELL & MELANOMA RESEARCH, 38 (1). ISSN 1755-1471 (2025)

Nagy Nikoletta; Aliasgari Abdolreza; Pál Margit; Bokor Barbara Anna; Veres Amarilla; Varga Noémi-Ágnes; Medvecz Márta; Szabó Viktória; Széll Márta: Oculocutaneous albinism type 1B associated with allelic combination of a risk haplotype.
JOURNAL OF DERMATOLOGICAL SCIENCE, 118 (3). pp. 101-103. ISSN 0923-1811 (2025)

Ádám Éva; Balázs Leitgeb; Danis Judit; Hajdú Anita; Kelemen Evelyn; Pál Margit; Belső Nóra; Németh István Balázs; Neil Rajan; Nagy Nikoletta; Széll Márta: Truncating CYLD pathogenic variants in CYLD cutaneous syndrome distinctly influence CYLD proteostasis and NF-κB signaling.
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 145 (8). 2094-2098.e7. ISSN 0022-202X (2025)

Nagy Zsófia Flóra; Pál Margit; Engelhardt József István; Molnár Mária Judit; Klivényi Péter; Széll Márta: Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations.
BMC MEDICAL GENOMICS, 17 (1). ISSN 1755-8794 (2024)

Bokor Barbara Anna; Török Dóra; Ferdinandyné Horváth Emese; László Zsuzsanna; Pál Margit; Szűcs Péter; Széll Márta: MECP2-gén-duplikáció gyermekkori és praenatalis diagnózisa [Diagnosis of MECP2 duplication in a child and prenatally].
ORVOSI HETILAP, 165 (1). pp. 30-34. ISSN 0030-6002 (2024)

Nagy Nikoletta; Pál Margit; Kun József; Gálik Bence; Urban Peter; Medvecz Márta; Fabos Beata; Neller Alexandra; Abdolreza Aliasgari; Danis Judit; Szabó Viktória; Yang Zhuo; Fenske Stefanie; Biel Martin; Gyenesei Attila; Ádám Éva; Széll Márta: Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 25 (2). ISSN 1661-6596 (2024)

Nagy Nikoletta; Pál Margit; Nagy Dóra; Bokor Barbara Anna; Zimmermann Aliz; Gellén Balázs; Salamon András; Sztriha László; Klivényi Péter; Széll Márta: A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder.
BMC PEDIATRICS, 24 (1). ISSN 1471-2431 (2024)

Máté Adrienn; Nagy Nikoletta; Pál Margit; Kalmár Tibor; Maróti Zoltán; Sztriha László: A tubulinok szerepe az agyfejlődésben. Tubulinopathiák.
GYERMEKGYÓGYÁSZAT, 75 (4). pp. 251-255. ISSN 0017-5900 (2024)

Salamon András; Nagy Zsófia Flóra; Pál Margit; Szabó Máté; Csősz Ádám; Szpisjak László; Gárdián Gabriella; Zádori Dénes; Széll Márta; Klivényi Péter: Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 24 (13). ISSN 1661-6596 (2023)

Pál Margit; Vetró Éva; Nagy Nikoletta; Nagy Dóra; Ferdinandyné Horváth Emese; Bokor Barbara Anna; Varga Anita; Seres László; Oláh Judit Magdolna; Piffkó József; Széll Márta: Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNS.
CURRENT ISSUES IN MOLECULAR BIOLOGY, 45 (7). pp. 5293-5304. ISSN 1467-3037 (2023)

Nagy Zsófia Flóra; Pál Margit; Salamon András; Zodanu Gloria Kafui Esi; Füstös Dalma; Klivényi Péter; Széll Márta: Re-analysis of the Hungarian amyotrophic lateral sclerosis population and evaluation of novel ALS genetic risk variants.
NEUROBIOLOGY OF AGING: AGE-RELATED PHENOMENA NEURODEGENERATION AND NEUROPATHOLOGY, 116. pp. 1-11. ISSN 0197-4580 (2022)

Réthi-Nagy Zsuzsánna; Ábrahám Edit; Udvardy Katalin; Klement Éva; Darula Zsuzsanna; Pál Margit; Katona Robert L.; Tubak Vilmos; Páli Tibor; Kóta Zoltán; Sinka Rita; Udvardy Andor; Lipinszki Zoltán: STABILON, a Novel Sequence Motif That Enhances the Expression and Accumulation of Intracellular and Secreted Proteins.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 23 (15). ISSN 1661-6596 (2022)

Kovács Levente; Nagy Ágota; Pál Margit; Deák Péter: Usp14 is required for spermatogenesis and ubiquitin stress responses in Drosophila melanogaster.
JOURNAL OF CELL SCIENCE, 133 (2). Terjedelem: 7 p-Azonosító: jcs237511. ISSN 0021-9533 (2020)

Nagy Ágota; Kovács Levente; Lipinszki Zoltán; Pál Margit; Deák Péter: Developmental and tissue specific changes of ubiquitin forms in Drosophila melanogaster.
PLOS ONE, 13 (12). ISSN 1932-6203 (2018)

Rusz Orsolya; Pál Margit; Szilágyi Éva; Rovó László; Varga Zoltán; Gyaponyi-Tomisa Bernadett; Fábián Gabriella; Kovács Levente; Nagy Olga; Mózes Petra; Reisz Zita; Tiszlavicz László; Deák Péter; Kahán Zsuzsanna: The Expression of Checkpoint and DNA Repair Genes in Head and Neck Cancer as Possible Predictive Factors.
PATHOLOGY AND ONCOLOGY RESEARCH, 2016. Terjedelem: 12 p.-Azonosító: 10.1007/s12253. ISSN 1219-4956 (2016)

Kovács Levente; Nagy Olga; Pál Margit; Udvardy Andor; Popescu Octavian; Deák Péter: Role of the Deubiquitylating Enzyme DmUsp5 in Coupling Ubiquitin Equilibrium to Development and Apoptosis in Drosophila melanogaster.
PLOS ONE, 10. Azonosító: e0120875-Terjedelem: 19 p.. ISSN 1932-6203 (2015)

Szabó Áron; Pál Margit; Deák Péter; Kiss Petra; Újfaludi Zsuzsanna; Pankotai Tibor; Lipinszki Zoltán; Udvardy Andor: Molecular characterization of the Rpt1/p48B ATPase subunit of the Drosophila melanogaster 26S proteasome.
Molecular genetics and genomics : MGG, 278 (1). pp. 17-29. ISSN 1617-4615 (2007)

Dequier E; Souid S; Pál Margit; Maróy Péter; Lepesant JA; Yanicostas C: Top-DER- and Dpp-dependent requirements for the Drosophila fos/kayak gene in follicular epithelium morphogenesis.
MECHANISMS OF DEVELOPMENT, 106 (1-2). pp. 47-60. ISSN 0925-4773 (2001)

Deák Péter; Omar MM; Saunders RDC; Pál Margit; Komonyi Orbán; Szidonya János; Maróy Péter; Zhang Y; Ashburner M; Panayiotis Benos; Charalambos Savakis; Inga Siden-Kiamos; Christos Louis; Viacheslav N. Bolshakov; Fotis C. Kafatos; Encarnacion Madueno; Juan Modolell; David M. Glover: P-Element Insertion Alleles of Essential Genes on the Third Chromosome of Drosophila melanogaster Correlation of Physical and Cytogenetic Maps in Chromosomal Region 86E-87F.
GENETICS, 147 (4). pp. 1697-1722. ISSN 0016-6731 (1997)

Salzberg Adi; Prokopenko Sergei N.; He Yuchun; Tsai Peter; Pál Margit; Maróy Péter; Glover David M.; Deák Péter; Bellen Hugo J.: P-Element Insertion Alleles of Essential Genes on the Third Chromosome of Drosophila melanogaster: Mutations Affecting Embryonic PNS Development.
GENETICS, 147 (4). pp. 1723-1741. ISSN 0016-6731 (1997)