Publications by authors named "Judit Bene"

54Publications

Mutation spectrum of the SCN1A gene in a Hungarian population with epilepsy.

Seizure 2020 Jan 8;74:8-13. Epub 2019 Nov 8.

Department of Medical Genetics, Medical School, Clinical Center, University of Pécs, Pécs, Hungary; Szentágothai Research Center, University of Pécs, Pécs, Hungary.

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http://dx.doi.org/10.1016/j.seizure.2019.10.019DOI Listing
January 2020

Mass Spectrometric Analysis of L-carnitine and its Esters: Potential Biomarkers of Disturbances in Carnitine Homeostasis.

Curr Mol Med 2020 ;20(5):336-354

Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, Pécs, Hungary.

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http://dx.doi.org/10.2174/1566524019666191113120828DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231908PMC
January 2020

Role of carnitine and its derivatives in the development and management of type 2 diabetes.

Nutr Diabetes 2018 03 7;8(1). Epub 2018 Mar 7.

Department of Medical Genetics, University of Pécs, Medical School, Szigeti 12, Pécs, H-7624, Hungary.

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http://dx.doi.org/10.1038/s41387-018-0017-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5856836PMC
March 2018

Age-Related Hearing Impairment Associated NAT2, GRM7, GRHL2 Susceptibility Gene Polymorphisms and Haplotypes in Roma and Hungarian Populations.

Pathol Oncol Res 2019 Oct 17;25(4):1349-1355. Epub 2018 Feb 17.

Department of Medical Genetics, University of Pecs, Medical School, Szigeti 12, Pecs, H-7624, Hungary.

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http://dx.doi.org/10.1007/s12253-018-0388-6DOI Listing
October 2019

[Importance of gross deletions in the diagnosis of tuberous sclerosis complex: the first Hungarian cases].

Orv Hetil 2017 Jul;158(30):1188-1194

Klinikai Központ, Orvosi Genetikai Intézet, Pécsi Tudományegyetem, Általános Orvostudományi Kar Pécs, Szigeti út 12., 7624.

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http://dx.doi.org/10.1556/650.2017.30789DOI Listing
July 2017

[A8344G mitochondrial DNA mutation observed in two generations].

Orv Hetil 2017 Mar;158(12):468-471

Általános Orvostudományi Kar, Klinikai Központ, Orvosi Genetikai Intézet, Pécsi Tudományegyetem Pécs, József A. u. 7., 7623.

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http://dx.doi.org/10.1556/650.2017.30634DOI Listing
March 2017

[De novo SCN1A gene deletion in therapy-resistant Dravet syndrome].

Orv Hetil 2015 Dec;156(49):2009-12

Klinikai Központ, Orvosi Genetikai Intézet, Pécsi Tudományegyetem, Általános Orvostudományi Kar Pécs, Szigeti út 12., 7624.

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http://dx.doi.org/10.1556/650.2015.30308DOI Listing
December 2015

Interethnic differences of cytochrome P450 gene polymorphisms may influence outcome of taxane therapy in Roma and Hungarian populations.

Drug Metab Pharmacokinet 2015 Dec 10;30(6):453-6. Epub 2015 Aug 10.

University of Pecs, Clinical Center, Department of Medical Genetics, H-7624 Pecs, Szigeti 12, Hungary; Janos Szentagothai Research Centre, Human Genetic and Pharmacogenomic Research Group, H-7624 Pecs, Ifjusag 20, Hungary. Electronic address:

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http://dx.doi.org/10.1016/j.dmpk.2015.08.001DOI Listing
December 2015

Identification of SLC22A5 Gene Mutation in a Family with Carnitine Uptake Defect.

Case Rep Genet 2015 5;2015:259627. Epub 2015 May 5.

Department of Medical Genetics, University of Pécs, Pécs, Hungary ; Szentagothai Research Centre, University of Pécs, Pécs, Hungary.

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http://downloads.hindawi.com/journals/crig/2015/259627.pdf
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http://www.hindawi.com/journals/crig/2015/259627/
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http://dx.doi.org/10.1155/2015/259627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4436458PMC
June 2015

Extreme differences in SLCO1B3 functional polymorphisms in Roma and Hungarian populations.

Environ Toxicol Pharmacol 2015 May 8;39(3):1246-51. Epub 2015 May 8.

Clinical Centre, Department of Medical Genetics, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary; Janos Szentagothai Research Centre, Human Genetic and Pharmacogenomic Research Group, Ifjusag 20, H-7624 Pecs, Hungary. Electronic address:

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http://dx.doi.org/10.1016/j.etap.2015.04.019DOI Listing
May 2015

[Genetic testing in hereditary spastic paraplegia].

Orv Hetil 2015 Jan;156(3):113-7

Pécsi Tudományegyetem, Klinikai Központ, Általános Orvostudományi Kar Orvosi Genetikai Intézet és Szentágothai János Kutatóközpont Pécs József A. u. 7. 7623.

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http://dx.doi.org/10.1556/OH.2015.30014DOI Listing
January 2015

Erratum to: Significant interethnic differences in functional variants of PON1 and P2RY12 genes in Roma and Hungarian population samples.

Mol Biol Rep 2015 Jan;42(1):317

Department of Medical Genetics, Szentágothai János Research Center, Clinical Center, University of Pécs, Szigeti 12, Pécs, 7624, Hungary,

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http://dx.doi.org/10.1007/s11033-014-3798-xDOI Listing
January 2015

Significant interethnic differencies in functional variants of PON1 and P2RY12 genes in Roma and Hungarian population samples.

Mol Biol Rep 2015 Jan 9;42(1):227-32. Epub 2014 Oct 9.

Department of Medical Genetics, Szentágothai János Research Center, Clinical Center, University of Pécs, Szigeti 12, Pécs, 7624, Hungary,

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http://dx.doi.org/10.1007/s11033-014-3762-9DOI Listing
January 2015

Ancient human genomes suggest three ancestral populations for present-day Europeans.

Authors:
Iosif Lazaridis Nick Patterson Alissa Mittnik Gabriel Renaud Swapan Mallick Karola Kirsanow Peter H Sudmant Joshua G Schraiber Sergi Castellano Mark Lipson Bonnie Berger Christos Economou Ruth Bollongino Qiaomei Fu Kirsten I Bos Susanne Nordenfelt Heng Li Cesare de Filippo Kay Prüfer Susanna Sawyer Cosimo Posth Wolfgang Haak Fredrik Hallgren Elin Fornander Nadin Rohland Dominique Delsate Michael Francken Jean-Michel Guinet Joachim Wahl George Ayodo Hamza A Babiker Graciela Bailliet Elena Balanovska Oleg Balanovsky Ramiro Barrantes Gabriel Bedoya Haim Ben-Ami Judit Bene Fouad Berrada Claudio M Bravi Francesca Brisighelli George B J Busby Francesco Cali Mikhail Churnosov David E C Cole Daniel Corach Larissa Damba George van Driem Stanislav Dryomov Jean-Michel Dugoujon Sardana A Fedorova Irene Gallego Romero Marina Gubina Michael Hammer Brenna M Henn Tor Hervig Ugur Hodoglugil Aashish R Jha Sena Karachanak-Yankova Rita Khusainova Elza Khusnutdinova Rick Kittles Toomas Kivisild William Klitz Vaidutis Kučinskas Alena Kushniarevich Leila Laredj Sergey Litvinov Theologos Loukidis Robert W Mahley Béla Melegh Ene Metspalu Julio Molina Joanna Mountain Klemetti Näkkäläjärvi Desislava Nesheva Thomas Nyambo Ludmila Osipova Jüri Parik Fedor Platonov Olga Posukh Valentino Romano Francisco Rothhammer Igor Rudan Ruslan Ruizbakiev Hovhannes Sahakyan Antti Sajantila Antonio Salas Elena B Starikovskaya Ayele Tarekegn Draga Toncheva Shahlo Turdikulova Ingrida Uktveryte Olga Utevska René Vasquez Mercedes Villena Mikhail Voevoda Cheryl A Winkler Levon Yepiskoposyan Pierre Zalloua Tatijana Zemunik Alan Cooper Cristian Capelli Mark G Thomas Andres Ruiz-Linares Sarah A Tishkoff Lalji Singh Kumarasamy Thangaraj Richard Villems David Comas Rem Sukernik Mait Metspalu Matthias Meyer Evan E Eichler Joachim Burger Montgomery Slatkin Svante Pääbo Janet Kelso David Reich Johannes Krause

Nature 2014 Sep;513(7518):409-13

1] Institute for Archaeological Sciences, University of Tübingen, Tübingen 72074, Germany. [2] Senckenberg Centre for Human Evolution and Palaeoenvironment, University of Tübingen, 72070 Tübingen, Germany. [3] Max Planck Institut für Geschichte und Naturwissenschaften, Jena 07745, Germany.

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https://genetics.med.harvard.edu/reich/Reich_Lab/Welcome_fil
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http://biorxiv.org/content/biorxiv/early/2013/12/23/001552.f
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http://www.geo.uni-tuebingen.de/fileadmin/website/arbeitsber
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http://www.nature.com/doifinder/10.1038/nature13673
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http://dx.doi.org/10.1038/nature13673DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4170574PMC
September 2014

Acylcarnitine esters profiling of serum and follicular fluid in patients undergoing in vitro fertilization.

Reprod Biol Endocrinol 2013 Jul 17;11:67. Epub 2013 Jul 17.

Department of Obstetrics and Gynecology, Faculty of Medicine, University of Pécs, Édesanyák u, 17, H-7624, Pécs, Hungary.

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http://dx.doi.org/10.1186/1477-7827-11-67DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3724743PMC
July 2013

Differences in circulating carnitine status of preterm infants fed fortified human milk or preterm infant formula.

J Pediatr Gastroenterol Nutr 2013 Nov;57(5):673-6

*Departments of Medical Genetics †Paediatrics, University of Pécs, Pécs, Hungary ‡Kinderklinik and Kinderpoliklinik, Dr von Hauner Children's Hospital, University of Munich Medical Centre, Munich, Germany.

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http://dx.doi.org/10.1097/MPG.0b013e31829fad06DOI Listing
November 2013

Similarities in serum acylcarnitine patterns in type 1 and type 2 diabetes mellitus and in metabolic syndrome.

Ann Nutr Metab 2013 28;62(1):80-5. Epub 2012 Dec 28.

Department of Medical Genetics, Clinical Center, University of Pécs, Pécs, Hungary.

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http://dx.doi.org/10.1159/000345759DOI Listing
July 2013

Dramatic decrease of carnitine esters after interruption of exogenous carnitine supply in hemodialysis patients.

Ren Fail 2012 15;34(5):555-8. Epub 2012 Mar 15.

Department of Medical Genetics, Clinical Center, University of Pécs, Pécs, Hungary.

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http://dx.doi.org/10.3109/0886022X.2012.664509DOI Listing
October 2012

Interaction between CTLA4 gene and IBD5 locus in Hungarian Crohn's disease patients.

Int J Colorectal Dis 2011 Sep 26;26(9):1119-25. Epub 2011 Apr 26.

Department of Medical Genetics, University of Pécs, Pécs, Szigeti út 12, H-7624, Hungary.

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http://dx.doi.org/10.1007/s00384-011-1202-zDOI Listing
September 2011

Dynamic adaptive changes of the serum carnitine esters during and after L-carnitine supplementation in patients with maintenance haemodialysis.

Scand J Clin Lab Invest 2011 Jul 3;71(4):280-6. Epub 2011 Mar 3.

Department of Medical Genetics, University of Pécs, Clinical Center, Pécs, Hungary.

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http://dx.doi.org/10.3109/00365513.2011.560674DOI Listing
July 2011

Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.

J Hum Genet 2011 Mar 16;56(3):183-7. Epub 2010 Dec 16.

Department of Medical Genetics, Faculty of Medicine, University of Pécs, Pecs, Hungary.

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http://dx.doi.org/10.1038/jhg.2010.156DOI Listing
March 2011

Comparison of mtDNA haplogroups in Hungarians with four other European populations: a small incidence of descents with Asian origin.

Acta Biol Hung 2007 Jun;58(2):245-56

Department of Public Health and Preventive Medicine, Faculty of Medicine, University of Pécs, Pécs, Hungary.

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http://www.akademiai.com/doi/abs/10.1556/ABiol.58.2007.2.11
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http://dx.doi.org/10.1556/ABiol.58.2007.2.11DOI Listing
June 2007

Plasma carnitine ester profiles in Crohn's disease patients characterized for SLC22A4 C1672T and SLC22A5 G-207C genotypes.

Br J Nutr 2007 Aug 29;98(2):345-50. Epub 2007 Mar 29.

Department of Medical Genetics and Child Development, University of Pécs, Pécs, Hungary.

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http://dx.doi.org/10.1017/S0007114507705020DOI Listing
August 2007

Prevalence of SLC22A4, SLC22A5 and CARD15 gene mutations in Hungarian pediatric patients with Crohn's disease.

World J Gastroenterol 2006 Sep;12(34):5550-3

Department of Medical Genetics and Child Development, University of Pecs, H-7624 Pecs, Szigeti 12, Hungary.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4088243PMC
http://dx.doi.org/10.3748/wjg.v12.i34.5550DOI Listing
September 2006

Angiotensin II type-1 receptor A1166C polymorphism is associated with increased risk of ischemic stroke in hypertensive smokers.

J Mol Neurosci 2006 ;28(3):285-90

Department of Neurology and Neurophysiology, Pándy Kálmán County Hospital, Gyula, and Department of Medical Genetics and Child Development, University of Pécs, Hungary.

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http://dx.doi.org/10.1385/JMN:28:3:285DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7090441PMC
January 2007

Plasma carnitine ester profile in adult celiac disease patients maintained on long-term gluten free diet.

World J Gastroenterol 2005 Nov;11(42):6671-5

Department of Medical Genetics and Child Development, University of Pecs, H-7624 PAcs, Szigeti 12., Hungary.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4355763PMC
http://dx.doi.org/10.3748/wjg.v11.i42.6671DOI Listing
November 2005

Lymphotoxin-alpha gene 252G allelic variant is a risk factor for large-vessel-associated ischemic stroke.

J Mol Neurosci 2005 ;27(2):205-11

Department of Neurology and Neurophysiology, Pándy Kálmán County Hospital, Gyula, and Department of Medical Genetics and Child Development, University of Pécs, Hungary.

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http://dx.doi.org/10.1385/JMN:27:2:205DOI Listing
December 2005

The goose reovirus genome segment encoding the minor outer capsid protein, sigma1/sigmaC, is bicistronic and shares structural similarities with its counterpart in Muscovy duck reovirus.

Virus Genes 2005 Dec;31(3):285-91

Regional Laboratory of Virology, Baranya County Institute of State Public Health Service, Szabadság út 7, H-7623 , Pécs, Hungary.

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http://dx.doi.org/10.1007/s11262-005-3243-2DOI Listing
December 2005

Glycoprotein IIIA gene (PlA) polymorphism and aspirin resistance: is there any correlation?

Ann Pharmacother 2005 Jun 19;39(6):1013-8. Epub 2005 Apr 19.

First Department of Medicine, School of Medicine, University of Pecs, Pecs, Hungary.

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http://dx.doi.org/10.1345/aph.1E227DOI Listing
June 2005

[Phenotypic variants of A3243G mitochondrial DNA mutation in a Hungarian family].

Orv Hetil 2004 Aug;145(35):1805-9

Pécsi Tudományegyetem, Orvos- és Egészségtudományi Centrum, Orvosi Genetikai és Gyermekfejlodéstani Intézet, Pécs.

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August 2004

Molecular epidemiology of human P[8],G9 rotaviruses in Hungary between 1998 and 2001.

J Med Microbiol 2004 Aug;53(Pt 8):791-801

Regional Laboratory of Virology, Baranya County Institute of State Public Health Service, Pécs, Hungary 2Respiratory and Enteroviruses Branch, Division of Viral and Rickettsial Diseases, Centers for Disease Control and Prevention, Atlanta, GA, USA 3,4,5Department of General and Environmental Microbiology, Faculty of Natural Sciences3, Department of Medical Microbiology and Immunology, Faculty of Medicine4 and Department of Medical Genetics and Child Development, Faculty of Medicine5, University of Pécs, Pécs, Hungary.

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http://dx.doi.org/10.1099/jmm.0.45603-0DOI Listing
August 2004

[Mutational analysis of the MECP2 gene by direct sequencing in Hungarian patients with Rett syndrome].

Orv Hetil 2004 Apr;145(17):909-11

Pécsi Tudományegyetem, Orvos- és Egészségtudományi Centrum, Orvosi Genetikai és Gyermekfejlódéstani Intézet, Pécs.

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April 2004

[Effect of ACE gene polymorphism on carbohydrate metabolism, on oxidative stress and on end-organ damage in type-2 diabetes mellitus].

Orv Hetil 2004 Apr;145(16):855-9

Pécsi Tudományegyetem, Altalános Orvostudományi Kar, II. Belgyógyászati Klinika és Nephrologiai Centrum.

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April 2004

Mapping of possible laminin binding sites of Y. pestis plasminogen activator (Pla) via phage display.

Adv Exp Med Biol 2003 ;529:101-4

Department of Medical Microbiology and Immunology, Medical School, University of Pécs, H-7624 Szigeti út 12., Pécs, Hungary.

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http://dx.doi.org/10.1007/0-306-48416-1_18DOI Listing
August 2003

Congenital cataract as the first symptom of a neuromuscular disease caused by a novel single large-scale mitochondrial DNA deletion.

Eur J Hum Genet 2003 May;11(5):375-9

Department of Medical Genetics and Child Development, University of Pécs, Pécs, Hungary.

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http://dx.doi.org/10.1038/sj.ejhg.5200975DOI Listing
May 2003

Analysis of carnitine biosynthesis metabolites in urine by HPLC-electrospray tandem mass spectrometry.

Clin Chem 2002 Jun;48(6 Pt 1):826-34

Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children's Hospital, PO Box 22700, 1100 DE Amsterdam, The Netherlands.

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June 2002