Single nucleotide polymorphisms: aging and diseases B Bessenyei, M Marka, L Urban, M Zeher, I Semsei Biogerontology 5 (5), 291-303, 2004 | 68 | 2004 |
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 | 33 | 2011 |
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 | 32 | 2012 |
On the role of aging in the etiology of autoimmunity L Urbán, B Bessenyei, M Márka, I Semsei Gerontology 48 (3), 179-184, 2002 | 28 | 2002 |
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 | 24 | 2015 |
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 | 23 | 2006 |
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 | 20 | 2013 |
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 | 19 | 2005 |
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 | 14 | 2014 |
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 | 13 | 2011 |
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 | 8 | 2011 |
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 | 7 | 2022 |
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 | 7 | 2022 |
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 | 7 | 2020 |
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 | 6 | 2001 |
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 | 4 | 2014 |
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 | 3 | 2023 |
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 | 3 | 2010 |
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 | 3 | 2005 |
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 | 2 | 2023 |