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Items where Author is "Melegh, Béla"

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Fekete, Anett and Hadzsiev, Kinga and Bene, Judit and Nászai, Antónia and Mátyás, Petra and Till, Ágnes and Melegh, Béla (2017) Két generációban megfigyelhető mitokondriális DNS A8344G mutáció | A8344G mitochondrial DNA mutation observed in two generations. Orvosi Hetilap, 158 (12). pp. 468-471. ISSN 0030-6002

Hadzsiev, Kinga and Szőts, Mónika and Fekete, Anett and Balikó, László and Boycott, Kim and Nagy, Ferenc and Melegh, Béla (2017) Neuroacanthocytosis diagnózisa új generációs exom-szekvenálással | Neuroacanthocytosis diagnosis with new generation whole exome sequencing. Orvosi Hetilap, 158 (42). pp. 1681-1684. ISSN 0030-6002

Sebők, Ágnes and Pál, Endre and Molnár, Gergő Attila and Wittmann, István and Berenténé Bene, Judit and Melegh, Béla and Komoly, Sámuel and Hidvégi, Tibor and Balogh, Lídia and Szabó, Attila and Zsidegh, Petra (2017) Rhabdomyolysis – Mikor vessük fel metabolikus myopathia lehetőségét? Esetismertetés és diagnosztikus algoritmus | Rhabdomyolysis – may it be a metabolic myopathy? Case report and diagnostic algorithm. Orvosi Hetilap, 158 (47). pp. 1873-1882. ISSN 0030-6002

Kövesdi, Erzsébet and Bene, Judit and Nagy, Nikoletta and Horváth, Ágnes and Melegh, Béla and Hadzsiev, Kinga (2017) A nagyobb méretű géndeletiók jelentősége a sclerosis tuberosa diagnosztikájában: az első magyar esetek bemutatása | Importance of gross deletions in the diagnosis of tuberous sclerosis complex: the first Hungarian cases. Orvosi Hetilap, 158 (30). pp. 1188-1194. ISSN 0030-6002

Hadzsiev, Kinga and Komlósi, Katalin and Czakó, Márta and Duga, Balázs and Szalai, Renáta and Szabó, András and Pöstyéni, Etelka and Szabó, Titanilla and Kosztolányi, György and Melegh, Béla (2016) Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype. Molecular Cytogenetics, 9 (22). pp. 1-6. ISSN 1755-8166, ESSN: 1755-8166

Bene, Judit and Hadzsiev, Kinga and Komlósi, Katalin and Kövesdi, Erzsébet and Mátyás, Petra and Melegh, Béla (2015) De novo SCN1A géndeletio terápiarezisztens Dravet-szindrómában. Orvosi Hetilap, 156 (49). pp. 2009-2012. ISSN 0030-6002

Szabo, Andras and Czakó, Márta and Hadzsiev, Kinga and Duga, Balázs and Komlósi, Katalin and Melegh, Béla (2015) Partial tetrasomy of the proximal long arm of chromosome 15 in two patients : the significance of the gene dosage in terms of phenotype. Mol Cytogenet. 2015 Jun 25;8:41., 25 (8). p. 41.

Komlósi, Katalin and Duga, Balázs and Hadzsiev, Kinga and Czakó, Márta and Kosztolányi, György and Fogarasi, András and Melegh, Béla (2015) Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome. Molecular Cytogenetics, 3 (8). p. 16. ISSN 1755-8166, ESSN: 1755-8166

Hadzsiev, Kinga and Balikó, László and Komlósi, Katalin and Lőcsei-Fekete, Anett and Csábi, Györgyi and Bene, Judit and Kisfali, Péter and Melegh, Béla (2015) Genetic testing of hereditary spastic paraplegia. Orvosi Hetilap, 156 (3). pp. 113-117. ISSN 0030-6002

Hadzsiev, Kinga and Balikó, László and Komlósi, Katalin and Lőcsei-Fekete, Anett and Csábi, Györgyi and Bene, Judit and Kisfali, Péter and Melegh, Béla (2015) Herediter spasticus paraplegia genetikai vizsgálata. Orvosi Hetilap, 156 (3). pp. 113-117. ISSN 0030-6002 (print), 1788-6120 (online)

Till, Ágnes and Hadzsiev, Kinga and Lőcsei-Fekete, Anett and Czakó, Márta and Duga, Balázs and Melegh, Béla (2015) A 22-es csapdája? A 22q11 kromoszóma deletiós szindróma változatos klinikai megjelenése két eset kapcsán. Orvosi Hetilap, 156 (45). pp. 1834-1838. ISSN 0030-6002

Bene, Judit and Hadzsiev, Kinga and Komlósi, Katalin and Kövesdi, Erzsébet and Mátyás, Petra and Melegh, Béla (2015) De novo SCN1A géndeletio terápiarezisztens Dravet-szindrómában. Orvosi Hetilap, 156 (49). pp. 2009-2012. ISSN 0030-6002

Dandár, Eszter and Fehér, Enikő and Kisfali, Péter and Melegh, Béla and Mató, Tamás and Kecskeméti, Sándor and Palya, Vilmos and Bányai, Krisztián and Farkas, Szilvia L. (2015) Genome sequences of three turkey orthoreovirus strains isolated in Hungary. GENOME ANNOUNCEMENTS, 3 (6). pp. 1-2. ISSN 2169-8287

Hadzsiev, Kinga and Balikó, László and Komlósi, Katalin and Lőcsei-Fekete, Anett and Csábi, Györgyi and Bene, Judit and Kisfali, Péter and Melegh, Béla (2015) Herediter spasticus paraplegia genetikai vizsgálata. Orvosi Hetilap, 156 (3). pp. 113-117. ISSN 0030-6002

Mutlu-Albayrak, Hatice and Bene, Judit and Burhan Oflaz, Mehmet and Tanyalçın, Tijen and Çaksen, Hüseyin and Melegh, Béla (2015) Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect. Case Reports in Genetics.

Tezenas du Montcel, Sophie and Durr, Alexandra and Rakowicz, Maria and Nanetti, Lorenzo and Charles, Perrine and Sulek, Anna and Mariotti, Caterina and Rola, Rafal and Schols, Ludger and Bauer, Péter and Dufaure-Garé, Isabelle and Jacobi, Heike and Forlani, Sylvie and Schmitz-Hübsch, Tanja and Filla, Alessandro and Timmann, Dagmar and van de Warrenburg, Bart P. and Marelli, Cecilia and Kang, Jun-Suk and Giunti, Paola and Cook, Arron and Balikó, László and Melegh, Béla and Boesch, Sylvia and Szymanski, Sandra and Berciano, José and Infante, Jon and Buerk, Katrin and Masciullo, Marcella and Fabio Di, Roberto and Depondt, Chantal and Ratka, Susanne and Stevanin, Giovanni and Klockgether, Thomas and Brice, Alexis and Golmard, Jean-Louis (2014) Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6. Journal of Medical Genetics, 51 (7). pp. 479-486. ISSN 0022-2593 (print), 1468-6244 (online)

Kovács, Viktória and Gaszner, Balázs and Balatonyi, Borbála and Járomi, Luca and Kisfali, Péter and Borsiczky, Balázs and Jancsó, Gábor and Marczin, Nándor and Szabados, Sándor and Melegh, Béla and Alotti, Nasri and Rőth, Elisabeth (2014) Polymorphisms in glutatione S-transferase are risk factors for perioperative acute myocardial infarction after cardiac surgery: a preliminary study. MOLECULAR AND CELLULAR BIOCHEMISTRY, 389 (1-2). pp. 79-84. ISSN 0300-8177 ESSN 1573-4919

Péntek, Márta and Kosztolányi, György and Melegh, Béla and Halász, Adrienn and Pogány, Gábor and Baji, Petra and Brodszky, Valentin and Vártokné Hevér, Noémi and Boncz, Imre and Gulácsi, László (2014) Cystás fi brosissal élő betegek és gondozóik életminősége és betegségterhei: a BURQOL-RD európai felmérés magyarországi eredményei | Health related quality of life and disease burden of patients with cystic fibrosis and their caregivers: Results of the European BURQOL-RD survey in Hungary. Orvosi Hetilap, 155 (42). pp. 1673-1684. ISSN 0030-6002

Duga, Balázs and Czakó, Márta and Komlósi, Katalin and Hadzsiev, Kinga and Török, Katalin and Sümegi, Katalin and Kisfali, Péter and Kosztolányi, György and Melegh, Béla (2014) Deletion of 4q28.3-31.23 in the background of multiple malformations with pulmonary hypertension. Molecular Cytogenetics, 7 (5). pp. 36-42. ISSN 1755-8166, ESSN: 1755-8166

Duga, Balázs and Czakó, Márta and Komlósi, Katalin and Hadzsiev, Kinga and Sümegi, Katalin and Kisfali, Péter and Melegh, Márton and Melegh, Béla (2014) Figyelemhiányos hiperaktivitásban szenvedő beteg vizsgálata array komparatív genomhibridizációs módszerrel | Attention deficit hyperactivity disorder analyzed with array comparative genome hybridization method. Case report. Orvosi Hetilap, 155 (40). pp. 1598-1601. ISSN 0030-6002

Pár, Alajos and Pár, Gabriella and Tornai, István and Szalay, Ferenc and Várszegi, Dalma and Fráter, Edit and Papp, Mária and Lengyel, Gabriella and Fehér, János and Varga, Márta and Gervain, Judit and Schuller, János and Nemes, Zsuzsanna and Péterfi, Zoltán and Tusnádi, Anna and Hunyady, Béla and Haragh, Attila and Szinku, Zsolt and Vincze, Áron and Szereday, László and Kisfali, Péter and Melegh, Béla (2014) IL28B and IL10R −1087 polymorphisms are protective for chronic genotype 1 HCV infection and predictors of response to interferon-based therapy in an East-Central European cohort. BMC Research Notes, 7 (1). p. 12. ISSN 1756-0500

Duga, Balázs and Czakó, Márta and Hadzsiev, Kinga and Komlósi, Katalin and Sümegi, Katalin and Kisfali, Péter and Kosztolányi, György and Melegh, Béla (2014) Ritka genomikai betegségek azonosítása array komparatív genomhibridizációs módszerrel – elsőként Magyarországon | Identifying rare genomic disorders with array comparative genomic hybridization in Hungary. Orvosi Hetilap, 155 (9). pp. 358-361. ISSN 0030-6002

Duga, Balázs and Czakó, Márta and Hadzsiev, Kinga and Komlósi, Katalin and Sümegi, Katalin and Kisfali, Péter and Kosztolányi, György and Melegh, Béla (2014) Ritka genomikai betegségek azonosítása array komparatív genomhibridizációs módszerrel – elsőként Magyarországon. Orvosi Hetilap, 158 (9). pp. 358-361. ISSN 0030-6002 (print), 1788-6120 (online)

Jacobi, Heike and Reetz, Kathrin and Tezenas du Montcel, Sophie and Bauer, Péter and Mariotti, Caterina and Nanetti, Lorenzo and Rakowicz, Maria and Sulek, Anna and Durr, Alexandra and Charles, Perrine and Filla, Alessandro and Antenora, Antonella and Schols, Ludger and Schicks, Julia and Infante, Jon and Kang, Jun-Suk and Timmann, Dagmar and Di Fabio, Roberto and Masciullo, Marcella and Balikó, László and Melegh, Béla and Boesch, Sylvia and Bürk, Katrin and Peltz, Annkathrin and Schulz B, Jörg and Dufaure-Garé, Isabelle and Klockgether, Thomas (2013) Biological and clinical characteristics of individuals at risk for spinocereellar ataxia types 1,2,3, and 6 in the longitudinal RISCA study: analysis of baseline data. Lancet Neurology, 12 (7). pp. 650-658. ISSN 1474-4422

Bene, Judit and Márton, Magdolna and Mohás, Márton and Bagosi, Zoltán and Bujtor, Zoltán and Oroszlán, Tamás and Gasztonyi, Beáta and Wittmann, István and Melegh, Béla (2013) Similarities in serum acylcarnitine patterns in Type 1 and Type2 diabetes mellitus and in metabolic syndrome. Annals of Nutrition and Metabolism, 62 (1). pp. 80-85. ISSN 0250-6807 ESSN 1421-9697

Dandár, Eszter and Bálint, Ádám and Kecskeméti, Sándor and Szentpáli-Gavallér, Katalin and Kisfali, Péter and Melegh, Béla and Farkas, Szilvia and Bányai, Krisztián (2013) Detection and characterization of a divergent avian reovirus strain from broiler chicken with central nervous system disease. Archives of Virology, 158. pp. 2583-2588. ISSN 0304-8608

Kisfali, Péter and Komlósi, Katalin and Hadzsiev, Kinga and Melegh, Béla (2013) Harmincéves betegút után igazolt Larsen-szindróma | Larsen-syndrome: final diagnosis following multiple surgical interventions. Orvosi Hetilap, 154 (4). pp. 143-146. ISSN 0030-6002

Pár, Alajos and Pár, Gabriella and Tornai, István and Szalay, Ferenc and Várszegi, Dalma and Fráter, Edit and Papp, Mária and Lengyel, Gabriella and †Fehér, János and Varga, Márta and Gervain, Judit and Schuller, János and Nemes, Zsuzsanna and Péterfi, Zoltán and Tusnádi, Anna and Hunyady, Béla and Haragh, Attila and Szinku, Zsolt and Pálinkás, László and Berki, Tímea and Vincze, Áron and Kisfali, Péter and Melegh, Béla (2013) IL28B CC genotípus: védő tényező és az interferonválasz prediktora krónikus hepatitis C-vírus- infekcióban | IL28B CC genotype: a protective factor and predictor of the response to interferon treatment in chronic hepatitis C virus infection. Orvosi Hetilap, 154 (32). pp. 1261-1268. ISSN 0030-6002

Ndze, Valentine Ngum and Papp, Hajnalka and Achidi, Eric Akum and László, Brigitta and Farkas, Szilvia and Kisfali, Péter and Melegh, Béla and Bányai, Krisztián (2013) One Year Survey of Human Rotavirus Strains Suggests the Emergence of Genotype G12 in Cameroon. JOURNAL OF MEDICAL VIROLOGY, 85 (8). pp. 1485-1490. ISSN 0146-6615

Papp, Hajnalka and Borzák, Réka and Farkas, Szilvia and Kisfali, Péter and Lengyel, György and Molnár, Péter and Melegh, Béla and Jakab, Ferenc and Bányai, Krisztián (2013) Zoonotic transmission of reassortant porcine G4P[6] rotaviruses in Hungarian pediatric patients identified sporadically over a 15 year period. INFECTION, GENETICS AND EVOLUTION, 19. pp. 71-80. ISSN 1567-1348

Kövesdi, Erzsébet and Hadzsiev, Kinga and Komlósi, Katalin and Kassay, Mária and Barsi, Péter and Melegh, Béla (2013) Új TSC1-mutációval társuló variábilis fenotípus sclerosis tuberosában | Novel TSC1 mutation associated with variable phenotypes in tuberous sclerosis. Orvosi Hetilap, 154 (23). pp. 914-918. ISSN 0030-6002

Jacobi, Heike and Hauser, Till-Karsten and Giunti, Paola and Globas, Christoph and Bauer, Péter and Schmitz-Hübsch, Tanja and Balikó, László and Filla, Alessandro and Mariotti, Caterina and Rakowicz, Maria and Charles, Perrine and Ribai, Pascale and Szymanski, Sandra and Infante, Jon and van de Warrenburg, Bart P.C. and Durr, Alexandra and Timmann, Dagmar and Boesch, Sylvia and Fancellu, Roberto and Rola, Rafal and Depondt, Chantal and Schols, Ludger and Zdzienicka, Elzbieta and Kang, Jun-Suk and Ratzka, Susanne and Kremer, Berry and Stephenson, Dennis A. and Melegh, Béla and Pandolfo, Massimo and du Montcel, Sophie Tezenas and Borkert, Johannes and Schulz B., Jörg and Klockgether, Thomas (2012) Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and cerebellar Findings. Cerebellum, 11 (1). pp. 155-166. ISSN 1473-4222 (Print) 1473-4230 (Online)

Schmitz-Hübsch, Tanja and Coudert, Mathieu and du Montcel, Sophie Tezenas and Giunti, Paola and Labrum, Robyn and Durr, Alexandra and Ribai, Pascale and Charles, Perrine and Linnemann, Christoph and Schols, Ludger and Rakowicz, Maria and Rola, Rafal and Zdzienicka, Elzbieta and Fancellu, Roberto and Mariotti, Caterina and Balikó, László and Melegh, Béla and Filla, Alessandro and Salvatore, Elena and van de Warrenburg, Bart P. C. and Szymanski, Sandra and Infante, Jon and Timmann, Dagmar and Boesch, Sylvia and Depondt, Chantal and Kang, Jun-Suk and Schulz B., Jörg and Klopstock, Thomas and Lossnitzer, Nicole and Löwe, Bernd and Frick, Caroline and Rottlander, Daniela and Schlaepfer, E. Thomas and Klockgether, Thomas (2011) Depression comorbidity in spinocerebellar ataxia. MOVEMENT DISORDERS, 25 (5). pp. 870-876. ISSN 0885-3185

Maász, Anita and Szolnoki, Zoltán and Balikó, László and Melegh, Béla (2011) Ischaemiás stroke genetikai háttere: Hol tartunk most? Orvosi Hetilap, 152 (12). pp. 455-463. ISSN 0030-6002 (print), 1788-6120 (online)

Kisfali, Péter and Mohás, Márton and Maász, Anita and Polgár, N. and Hadarits, Ferenc and Markó, Lajos and Brasnyó, P. and Horvatovich, Katalin and Oroszlán, Tamás and Bagosi, Zoltán and Bujtor, Zoltán and Gasztonyi, Beáta and Rinfel, J. and Wittmann, István and Melegh, Béla (2010) Haplotype analysis of the apolipoprotein A5 gene in patients with the matabolic syndrome. Nutrition, Metabolism & Cardiovascular Disease, 20 (7). pp. 505-511. ISSN 0939-4753

Fonteyn M.R., Ella and Schmitz-Hübsch, Tanja and Verstappen C., Carla and Balikó, László and Bloem R., Bastian and Boesch, Sylvia and Bunn, Lisa and Charles, Perrine and Durr, Alexandra and Filla, Alessandro and Giunti, Paola and Globas, Christoph and Klockgether, Thomas and Melegh, Béla and Pandolfo, Massimo and Rosa De, Anna and Schols, Ludger and Timmann, Dagmar and Munneke, Marten and Kremer P.H., Berry and van de Warrenburg, Bart P.C. (2010) Falls in Spinocerebellar Ataxias: Results of the EuroSCA Fall Study. Cerebellum, 9 (2). pp. 232-239. ISSN 1473-4222 (Print) 1473-4230 (Online)

Talián, Gábor and Lakner, Ł. and Bene, J. and Komlósi, K. and Horváth, K. and Gasztonyi, Beáta and Miheller, Pál and Figler, Mária and Mózsik, Gyula and Tulassay, Zsolt and Melegh, Béla (2009) Plasma carnitine ester profile in Crohn's disease and ulcerative colitis patients with different IGR2230a_1 genotypes. International Journal of Immunogenetics, 36 (6). pp. 329-335. ISSN ISSN 1744-3121, ESSN 1744-313X

Ursu, Krisztina and Kisfali, Péter and Rigó, Dóra and Ivanics, Éva and Erdélyi, Károly and Dán, Ádám and Melegh, Béla and Vito, Martella and Bányai, Krisztián (2009) Molecular analysis of the VP7 gene of pheasant rotaviruses identifies a new genotype, designated G23. Archives of Virology, 154 (8). pp. 1365-1369. ISSN 0304-8608

Kisfali, Péter and Mohás, Márton and Maász, Anita and Hadarits, Ferenc and Oroszlán, Tamás and Bujtor, Zoltán and Bagosi, Zoltán and Gasztonyi, Beáta and Wittmann, István and Melegh, Béla (2009) APOA5 gene polymorphism and triglyceride levels in metabolic syndrome patients. European Journal of Human Genetics, 17 (S2). p. 263. ISSN 1018-4813; E-ISSN 1476-5438

Bányai, Krisztián and Bogdán, Ágnes and Domonkos, Gertrud and Kisfali, Péter and Molnár, Péter and Tóth, András and Melegh, Béla and Vito, Martella and Gentsch, Jon R and Szűcs, György (2008) Genetic Diversity and Zoonotic Potential of Human Rotavirus Strains, 2003–2006, Hungary. JOURNAL OF MEDICAL VIROLOGY, 81 (2). pp. 362-370. ISSN 0146-6615

Globas, Christoph and Tezenas du Montcel, Sophie and Balikó, László and Boesch, Sylvia and Depondt, Chantal and DiDonato, Stefano and Durr, Alexandra and Filla, Alessandro and Klockgether, Thomas and Mariotti, Caterina and Melegh, Béla and Rakowicz, Maria and Ribai, Pascale and Rola, Rafal and Schmitz-Hübsch, Tanja and Szymanski, Sandra and Timmann, Dagmar and van de Warrenburg, Bart P. and Bauer, Péter and Schols, Ludger (2008) Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. MOVEMENT DISORDERS, 23 (15). pp. 2232-2238. ISSN 0885-3185

Kisfali, Péter and Mohás, Márton and Maász, Anita and Hadarits, Ferenc and Markó, Lajos and Horvatovich, Katalin and Oroszlán, Tamás and Bagosi, Zoltán and Bujtor, Zoltán and Gasztonyi, Beáta and Wittmann, István and Melegh, Béla (2008) Apolipoprotein A5 IVS3+476A Allelic Variant Associates With Increased Trigliceride Levels and Confers Risk for Development of Metabolic Syndrome in Hungarians. Circulation Journal, 72 (1). pp. 40-43. ISSN 1346-9843

Kisfali, Péter and Mohás, Márton and Maász, Anita and Hadarits, Ferenc and Markó, Lajos and Késői, I. and Oroszlán, Tamás and Bagosi, Zoltán and Bujtor, Zoltán and Rinfel, J. and Gasztonyi, Beáta and Wittmann, István and Melegh, Béla (2008) Apolipoprotein A5 gene APOA5*2 haplotype variant confers risk for the development of metabolic syndrome. European Journal of Human Genetics, 16 (S2). p. 328. ISSN 1018-4813; E-ISSN 1476-5438

Kisfalvi, Péter and Mohás, Márton and Maász, Anita and Hadarits, Ferenc and Markó, Lajos and Oroszlán, Tamás and Bagosi, Zoltán and Bujtor, Zoltán and Lupkovics, Géza and Gasztonyi, Beáta and Wittmann, István and Melegh, Béla (2008) Az apolipoprotein A5 gén IVS3+476A és 1259C allélvariánsok vizsgálata metabolikus szindrómában szenvedő betegekben. MAGYAR BELORVOSI ARCHIVUM, 61 (2). pp. 123-127. ISSN 0133-5464

Sáfrány, Enikő and Balikó, László and Guseo, András and Faragó, Bernadett and Melegh, Béla (2007) Autoszomális domináns öröklődésű cereballaris ataxiák. Orvosi Hetilap, 148 (45). pp. 2125-2132. ISSN 0030-6002 (print), 1788-6120 (online)

Magyari, Lili and Faragó, Bernadett and Bene, Judit and Horvatovich, Katalin and Lakner, Lilla and Varga, Márta and Figler, Mária and Gasztonyi, Beáta and Mózsik, Gyula and Melegh, Béla (2007) No association of the cytotoxic T-lymphocyte associated gene CTLA4 +49A/G polymorphisms with Crohn’s disease and ulcerative colitis in Hungarian population samples. World Journal of Gastroenterology, 13 (15). pp. 2205-2208. ISSN 1007-9327 (print), 2219-2840 (online)

Magyari, Lili and Benedek, Judit and Komlósi, Katalin and Talián, Gábor and Faragó, Bernadett and Csöngei, Veronika and Járomi, Luca and Sáfrány, Enikő and Sipeky, Csilla and Lakner, Lilla and Varga, Márta and Gasztonyi, Beáta and Melegh, Béla (2007) Prevalence of SLC22A4 1672T and SLC22A5 −207C combination defined TC haplotype in Hungarian ulcerative colitis patients. Pathology and Oncology Research, 13 (1). pp. 53-56. ISSN 1219-4956

Bene, Judit and Komlósi, Katalin and Magyari, Lili and Talián, Gábor and Horváth, Krisztina and Gasztonyi, Beáta and Miheller, Pál and Figler, Mária and Mózsik, Gyula and Tulassay, Zsolt and Melegh, Béla (2007) Plasma carnitine ester profiles in Crohn's disease patients characterized for SLC22A4 C1672T and SLC22A5 G-207C genotypes. British Journal of Nutrition, 98 (2). pp. 345-350. ISSN 0007-1145; E-ISSN 1475-2662

Benedek, Judit and Magyari, Lili and Talián, Gábor and Komlósi, Katalin and Gasztonyi, Beáta and Tari, Beáta and Várkonyi, Ágnes and Mózsik, Gyula and Melegh, Béla (2006) Prevalence of SLC22A4, SLC22A% and CARD15 gene mutations in Hungarian pediatric patients with Crohn's disease. WORLD JOURNAL OF GASTROENTEROLOGY, 12 (34). pp. 5550-5553. ISSN 1007-9327

Metzger, Silke and Bauer, Péter and Tomiuk, Jürgen and Laccone, Franco and DiDonato, Stefano and Gellera, Cinzia and Mariotti, Caterina and Lange, Herwig W. and Weirich-Schwaiger, Helga and Wenning, Gregor K. and Seppi, Klaus and Melegh, Béla and Havasi, Viktória and Balikó, László and Wieczorek, Stefan and Zaremba, Jacek and Hoffman-Zacharska, Dorota and Sulek, Anna and Basak, Nazli A. and Soydan, Esra and Zidovska, Jana and Kebrdlova, Vera and Pandolfo, Massimo and Ribai, Pascale and Kadasi, Ludovit and Kvasnicova, Marta and Weber, Bernhardt H. F. and Kreuz, Friedmar and Dose, Matthias and Stuhrmann, Manfred and Riess, Olaf (2006) Genetic analysis of candidate genes modifying the age-atonset in Hungtinton's disease. Human Genetics, 20 (2). pp. 285-292. ISSN 0340-6717 (Print); 1432-1203 (Online)

Schmitz-Hübsch, Tanja and Tezenas du Montcel, Sophie and Balikó, László and Boesch, Sylvia and Bonato, Sara and Fancellu, Roberto and Giunti, Paola and Globas, Christoph and Kang, Jun-Suk and Kremer, Berry and Mariotti, Caterina and Melegh, Béla and Rakowicz, Maria and Rola, Rafal and Romano, Sylvie and Schöls, Lodger and Szymanski, Sandra and van de Warrenburg, Bart P. C. and Zdzienicka, Elzbieta and Durr, Alexandra and Klockgether, Thomas (2006) Reliability and Validity of the international cooperative ataxia rating scale: A study in 156 spinocerebellar ataxia patients. MOVEMENT DISORDERS, 21 (5). pp. 969-704. ISSN 0885-3185

Metzger, Silke and Bauer, Péter and Tomiuk, Jürgen and Laccone, Franco and DiDonato, Stefano and Gellera, Cinzia and Soliveri, Paola and Lange, Herwig W. and Weirich-Schwaiger, Helga and Wenning, Gregor K. and Melegh, Béla and Havasi, Viktória and Balikó, László and Wieczorek, Stefan and Arning, Larissa and Zaremba, Jacek and Sulek, Anna and Hoffman-Zacharska, Dorota and Basak, Nazli A. and Ersoy, Nagehan and Zidovska, Jana and Kebrdlova, Vera and Pandolfo, Massimo and Ribai, Pascale and Kadasi, Ludovit and Kvasnicova, Marta and Weber, Bernhardt H. F. and Kreuz, Friedmar and Dose, Matthias and Stuhrmann, Manfred and Riess, Olaf (2006) The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease. Neurogenetics, 7 (1). pp. 27-30. ISSN ISSN: 1364-6745 (Print) 1364-6753 (Online)

Bene, Judit and Komlósi, Katalin and Havasi, Viktória and Talián, Gábor and Gasztonyi, Beáta and Horváth, Krisztina and Mózsik, Gyula and Hunyady, Béla and Melegh, Béla and Figler, Mária (2006) Changes of plasma fasting carnitine ester profile in patients with ulcerative colitis. World Journal of Gastroenterology, 12 (1). pp. 110-113. ISSN 1007-9327 (print), 2219-2840 (online)

Mózsik, Gyula and Rumi, György and Dömötör, András and Figler, Mária and Gasztonyi, Beáta and Papp, Előd and Pár, Alajos and Pár, Gabriella and Belágyi, József and Matus, Zoltán and Melegh, Béla (2005) Involvement of serum retinoids and Leiden mutation in patients with esophageal, gastric, liver, pancreatic, and colorectal cancers in Hungary. World Journal of Gastroenterology, 11 (48). pp. 7646-7650. ISSN 1007-9327 (print), 2219-2840 (online)

Bene, Judit and Komlósi, Katalin and Gasztonyi, Beáta and Juhász, Márk and Tulassay, Zsolt and Melegh, Béla (2005) Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet. World Journal of Gastroenterology, 11 (42). pp. 6671-6675. ISSN 1007-9327 (print), 2219-2840 (online)

Nádasi, Edit and Bene, Judit and Havasi, Viktória and Komlósi, Katalin and Talián, Gábor and Melegh, György and Papp, Előd and Gasztonyi, Beáta and Szolnoki, Zoltán and Sándor, János and Mózsik, Gyula and Tóth, Kálmán and Melegh, Béla and Wittmann, István (2005) Detection of the Leu40Arg variant of the platelet glycoprotein IIb/IIIa receptor in subject with thrombotic diseases. Thrombosis Research, 116 (6). pp. 479-482. ISSN 0049-3848, ESSN: 1879-2472

Komlósi, Katalin and Bene, Judit and Havasi, Viktória and Tihanyi, Marianna and Herczegfalvi, Ágnes and Móser, Judit and Melegh, Béla (2004) A mitokondriális DNS A3243G mutációja egy magyar családban. ORVOSI HETILAP, 145 (35). pp. 1805-1809. ISSN 0030-6002

Gasztonyi, Beáta and Juhász, M. and Horváth, K. and Bene, Judit and Komlósi, Katalin and Havasi, Viktória and Talián, Gábor and Zágoni, T. and Varjú, S. and Vélin, V. and Tulassay, Zsolt and Juricskay, I. and Mózsik, Gyula and Hunyady, Béla and Melegh, Béla (2004) On the plasma carnitine ester profile in adult celiac disease. Zeitschrift für Gastroenterologie, 42 (5). p. 35. ISSN 0044-2771

Horváth, K. and Gasztonyi, Beáta and Bene, Judit and Komlósi, Katalin and Havasi, V. and Talián, Gábor and Vélin, V. and Varjú, S. and Juhász, M. and Tulassay, Zsolt and Juricskay, I. and Mózsik, Gyula and Hunyady, Béla and Melegh, Béla (2004) Plasma carnitine ester profile in Chron's disease. Zeitschrift für Gastroenterologie, 42 (5). p. 50. ISSN 0044-2771

Havasi, Viktória and Bene, Judit and Komlósi, Katalin and Gasztonyi, Beáta and Talián, G. C and Cserép, V. and Kovács, B. and Mózsik, Gyula and Melegh, Béla (2002) Screening for two susceptibility-associated polymorphisms of OCTN carnitine transporter in Crohn-disease patients. European Journal of Human Genetics, 40 (5). pp. 276-277. ISSN 1018-4813; E-ISSN 1476-5438

Monograph

Melegh, Béla and Berenténé Bene, Judit Ágnes and Kisfali, Péter and Sipeky, Csilla and Tulassay, Zsolt (2013) Az 5q31 kromoszóma régió funkcionális variánsai: kapcsolat poligénes betegségek és a karnitin rendszer között. = Functional variants of the 5q31 chromosome region: connections between polygenic diseases and the carnitine system. Project Report. OTKA.

Melegh, Béla and Gasztonyi, Beáta and Halmainé Komlósi, Katalin and Havasi, Viktória and Talián, Csaba Gábor (2009) A karnitin észterek profilszerű meghatározásának jelentősége a humán karnitin metabolizmus vizsgálatában = Determination of the carnitine ester profiles as a tool in study of human carnitine metabolism. Project Report. OTKA.

This list was generated on Thu Dec 14 19:35:02 2017 CET.