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Beáta Bessenyei
Beáta Bessenyei
Verified email at med.unideb.hu
Title
Cited by
Cited by
Year
Single nucleotide polymorphisms: aging and diseases
B Bessenyei, M Marka, L Urban, M Zeher, I Semsei
Biogerontology 5 (5), 291-303, 2004
682004
New mutations in the ATM gene and clinical data of 25 AT patients
I Demuth, V Dutrannoy, W Marques, H Neitzel, D Schindler, PS Dimova, ...
neurogenetics 12, 273-282, 2011
332011
Lissencephaly and Band Heterotopia: LIS1, TUBA1A, and DCX Mutations in Hungary
A Mokánszki, I Körhegyi, N Szabó, E Bereg, G Gergev, E Balogh, ...
Journal of Child Neurology 27 (12), 1534-1540, 2012
322012
On the role of aging in the etiology of autoimmunity
L Urbán, B Bessenyei, M Márka, I Semsei
Gerontology 48 (3), 179-184, 2002
282002
Clinical and genetic characteristics of craniosynostosis in Hungary
B Bessenyei, A Nagy, K Szakszon, A Mokánszki, E Balogh, A Ujfalusi, ...
American Journal of Medical Genetics Part A 167 (12), 2985-2991, 2015
242015
Association between the Epstein-Barr virus and Hodgkin’s lymphoma in the North-Eastern part of Hungary: effects on therapy and survival
K Keresztes, Z Miltenyi, B Bessenyei, Z Beck, Z Szollosi, Z Nemes, E Olah, ...
Acta haematologica 116 (2), 101-107, 2006
232006
Achondroplasia with multiple‐suture craniosynostosis: A report of a new case of this rare association
B Bessenyei, A Nagy, E Balogh, L Novák, L Bognár, AC Knegt, É Oláh
American Journal of Medical Genetics Part A 161 (10), 2641-2644, 2013
202013
IL‐10 promoter− 1082 polymorphism is associated with elevated IL‐10 levels in control subjects but does not explain elevated plasma IL‐10 observed in Sjögren's syndrome in a …
M Marka, B Bessenyei, M Zeher, I Semsei
Scandinavian journal of immunology 62 (5), 474-480, 2005
192005
Variable expressivity of pfeiffer syndrome in a family with FGFR1 p.Pro252Arg mutation
B Bessenyei, M Tihanyi, M Hartwig, K Szakszon, É Oláh
American Journal of Medical Genetics Part A 164 (12), 3176-3179, 2014
142014
Blepharophimosis mental retardation syndrome Say‐Barber/Biesecker/Young‐Simpson type–New findings with neuroimaging
K Szakszon, E Berényi, A Jakab, B Bessenyei, E Balogh, T Köbling, ...
American Journal of Medical Genetics Part A 155 (3), 634-637, 2011
132011
Jumping translocation of chromosome 1q associated with good clinical outcome in a case of Burkitt leukemia
B Bessenyei, A Ujfalusi, E Balogh, E Olah, I Szegedi, C Kiss
Cancer genetics 204 (4), 207-210, 2011
82011
Cytogenetic investigation of infertile patients in Hungary: a 10-year retrospective study
S Andó, K Koczok, B Bessenyei, I Balogh, A Ujfalusi
Genes 13 (11), 2086, 2022
72022
MED13L-related intellectual disability due to paternal germinal mosaicism
B Bessenyei, I Balogh, A Mokánszki, A Ujfalusi, R Pfundt, K Szakszon
Molecular Case Studies 8 (1), a006124, 2022
72022
22q13 microduplication syndrome in siblings with mild clinical phenotype: broadening the clinical and behavioral spectrum
A Ujfalusi, O Nagy, B Bessenyei, G Lente, I Kántor, ÁJ Borbély, ...
Molecular Syndromology 11 (3), 146-152, 2020
72020
UVB light and 17-β-estradiol have different effects on the mRNA expression of Ro/SSA and La/SSB autoantigens in HaCaT cells
A Szegedi, B Irinyi, B Bessenyei, M Márka, J Hunyadi, I Semsei
Archives of dermatological research 293, 275-282, 2001
62001
Results of clinical and genetic diagnosis of rare diseases in the Eastern region of Hungary (2007-2013)
K Szakszon, E Balogh, A Ujfalusi, B Bessenyei, GP Szabó, I Balogh, ...
Orvosi hetilap 155 (9), 348-357, 2014
42014
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes
N Maia, N Ibarluzea, M Misra‐Isrie, DC Koboldt, I Marques, G Soares, ...
American Journal of Medical Genetics Part A 191 (1), 135-143, 2023
32023
Detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation
G P. Szabó, B Bessenyei, E Balogh, A Ujfalusi, K Szakszon, É Oláh
Orvosi Hetilap 151 (27), 1091-1098, 2010
32010
Association of Hodgkin lymphoma with Epstein-Barr virus in Hungary
K Keresztes, B Bessenyei, Z Szöllosi, Z Beck, Z Miltényi, Z Nemes, E Oláh, ...
Orvosi Hetilap 146 (30), 1575-1582, 2005
32005
Compound heterozygous variants in MAPK8IP3 were detected in severe congenital hypotonia mimicking lethal spinal muscular atrophy
J Kárteszi, A Ziegler, M Tihanyi, B Elmont, Y Zhang, B Patócs, MJ Molnár, ...
American Journal of Medical Genetics Part A 191 (9), 2428-2432, 2023
22023
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