Representative publications - Inherited Diseases Group

  • Korade Z, Kim HY, Tallman KA, Liu W, Koczok K, Balogh I, Xu L, Mirnics K, Porter NA. The Effect of Small Molecules on Sterol Homeostasis: Measuring 7-Dehydrocholesterol in Dhcr7-Deficient Neuro2a Cells and Human Fibroblasts. Journal of  Medicinal Chemistry (2016) 59(3):1102-1115
     
  • Nagy B Jr, Nagy B, Fila L, Clarke LA, Gönczy F, Bede O, Nagy D, Újhelyi R, Szabó Á, Anghelyi A, Major M, Bene Z, Fejes Z, Antal-Szalmás P, Bhattoa HP, Balla G, Kappelmayer J, Amaral MD, Macek M Jr, Balogh I. Human epididymis protein 4 (HE4): a novel serum inflammatory biomarker in cystic fibrosis. Chest Journal (2016) 150(3):661-672
     
  • Mizzi C, Dalabira E, Kumuthini J, Dzimiri N, Balogh I, Başak N, Böhm R, Borg J, Borgiani P, Bozina N, Bruckmueller H, Burzynska B, Carracedo A, Cascorbi I, Deltas C, Dolzan V, Fenech A, Grech G, Kasiulevicius V, Kádaši Ľ, Kučinskas V, Khusnutdinova E, Loukas YL, Macek M Jr, Makukh H, Mathijssen R, Mitropoulos K, Mitropoulou C, Novelli G, Papantoni I, Pavlovic S, Saglio G, Setric J, Stojiljkovic M, Stubbs AP, Squassina A, Torres M, Turnovec M, van Schaik RH, Voskarides K, Wakil SM, Werk A, Del Zompo M, Zukic B, Katsila T, Lee MT, Motsinger-Rief A, Mc Leod HL, van der Spek PJ, Patrinos GP. A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics. PLoS One (2016) 11(9):e0162866
     
  • Balogh I, Koczok K, Szabo GP, Torok O, Hadzsiev K, Csabi G, Balogh L, Dzsudzsak E, Ajzner E, Szabo L, Csakvary V, Olah AV. Mutational spectrum of Smith-Lemli-Opitz syndrome patients in hungary. Mol Syndromol. 2012, 3:215-222
     
  • Gaal Z, Klupa T, Kantor I, Mlynarski W, Albert L, Tolloczko J, Balogh I, Czajkowski K, Malecki MT. Sulfonylurea use during entire pregnancy in diabetes because of KCNJ11 mutation: a report of two cases. Diabetes Care. 2012, 35: e40
     
  • Losonczy G, Vajas A, Takacs L, Dzsudzsak E, Fekete A, Marhoffer E, Kardos L, Ajzner E, Hurtado B, de Frutos PG, Berta A, Balogh I. Effect of the Gas6 c.834+7G>A polymorphism and the interaction of known risk factors on AMD pathogenesis in Hungarian patients. PLoS One. 2012, 7: e50181
     
  • Szakszon K, Felszeghy E, Csizy I, Jozsa T, Kaposzta R, Balogh E, Olah E, Balogh I, Berenyi E, Knegt AC, Ilyes I. Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome. Eur J Med Genet. 2012, 55: 109-111
     
  • Mokánszki A, Ujfalusi A, Balogh E, Sümegi A, Antal-Szalmás P, Kassai Bazsáné Zs, Molnár Zs, Varga A, Sápy T, Jakab A, Oláh É. Meiotic segregation study of a novel t(3;6)(q21;q23) in an infertile man using fluorescence in situ hybridization (FISH). Syst Biol Reprod Med. 2012, 58(3): 160-164
     
  • Mokánszki A, Molnár Z, Ujfalusi A, Balogh E, Bazsáné ZK, Varga A, Jakab A, Oláh E. Correlation study between sperm concentration, hyaluronic acid-binding capacity and sperm aneuploidy in Hungarian patients. Reprod Biomed Online. 2012, 25(6): 620-626
     
  • Mokánszki A, Körhegyi I, Szabó N, Bereg E, Gergev G, Balogh E, Bessenyei B, Sümegi A, Morris-Rosendahl DJ, Sztriha L, Oláh E. Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary. J Child Neurol. 2012, 27(12):1534-40
     
  • Szabó GP, Knegt AC, Ujfalusi A, Balogh E, Szabó T, Oláh É. Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients. Am J Med Genet A. 2012, 158A(4): 869-76
     
  • Oláh AV, Asztalos L, Kovács ÁM, Ivády G, Varga J: Relation between mycophenolic acid level and kidney function during combined immunosuppressive therapy. Clin Chem Lab Med. 2011; 49(11): 1849-53
     
  • Molnár Zs, Mokánszki A, Benyó M, Kassai Zs, Oláh É, Jakab A: Sperm fertilization potential and chromosomal anomalies in testicular cancer before chemotherapy. Human Reproduction 2011, 26 p. i253
     
  • Szakszon K, Berényi E, Jakab A, Bessenyei B, Balogh E, Köbling T, Szilvássy J,Knegt AC, Oláh E. Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type – new findings with neuroimaging. Am J Med Genet A. 2011, 155A(3): 634-7
     
  • Demuth I, Dutrannoy V, Marques W Jr, Neitzel H, Schindler D, Dimova PS, Chrzanowska KH, Bojinova V, Gregorek H, Graul-Neumann LM, von Moers A, Schulze I,Nicke M, Bora E, Cankaya T, Oláh É, Kiss C, Bessenyei B, Szakszon K,Gruber-Sedlmayr U, Kroisel PM, Sodia S, Goecke TO, Dörk T, Digweed M, Sperling K,de Sá J, Lourenco CM, Varon R. New mutations in the ATM gene and clinical data of 25 AT patients. Neurogenetics. 2011, 12(4): 273-82
     
  • Losonczy G, Fekete A, Voko Z, Takacs L, Kaldi I, Ajzner E, Kasza M, Vajas A, Berta A, Balogh I. Analysis of complement factor H Y402H, LOC387715, HTRA1 polymorphisms and ApoE alleles with susceptibility to age-related macular degeneration in Hungarian patients. Acta Ophthalmol. 2011; 89: 255-262
     
  • Ivady G, Madar L, Nagy B, Gönczi F, Ajzner É, Dzsudzsak E, Dvořáková L, Gombos É, Kappelmayer J, Macek M Jr., Balogh I. Distribution of CFTR mutations in Eastern Hungarians: Relevance to genetic testing and to the introduction of newborn screening for cystic fibrosis. J Cyst Fibros. 2011, 10: 217-20
     
  • GP Szabó, AV Oláh, L Kozák, E Balogh, A Nagy, I Blahakova, É Oláh: A patient with Smith-Lemli-Opitz Syndrome: novel mutation of the DHCR7 gene and effects of therapy with simvastatin and cholesterol supplement. Eur J Pediatr. 2010, 169:121-3
     
  • Hallay, J Oláh AV, Fülesdi B, Kocsor M, Végh T, Kovács G, Takács I, Sápy P, Nagy D, Telessy IG: Comparison of the effect of different lipid therapy as part of total parenteral nutrition on short term hepatobiliary response in patients underwent gastrointestinal surgery. Hepato-Gastroenterology 2010, 57: 1069-1073
     
  • Nelle H, Schreyer I, Ewers E, Mrasek K, Kosyakova N, Merkas M, Hamid AB, Fahsold R, Ujfalusi A, Anderson J, Rubtsov N, Küchler A, von Eggeling F, Hentschel J,Weise A, Liehr T. Presence of harmless small supernumerary marker chromosomes hampers molecular genetic diagnosis: a case report. Mol Med Rep. 2010, 3(4): 571-4
     
  • Ajzner E, Balogh I, Szabo T, et al. Severe coagulation factor V deficiency caused by 2 novel frameshift mutations: 2952delT in exon 13 and 5493insG in exon 16 of factor 5 gene. Blood. 2002, 99: 702-705
     
  • Balogh I, Szoke G, Karpati L, et al. Val34Leu polymorphism of plasma factor XIII: biochemistry and epidemiology in familial thrombophilia. Blood. 2000, 96: 2479-2486

Frissítés dátuma: 2019.06.05.