Bela Melegh

Bela Melegh

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Bela Melegh

Publications by authors named "Bela Melegh"

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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

Possible Phenotypic Consequences of Structural Differences in Idic(15) in a Small Cohort of Patients.

Int J Mol Sci 2019 Oct 5;20(19). Epub 2019 Oct 5.

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

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http://dx.doi.org/10.3390/ijms20194935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6801911PMC
October 2019

A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F.

Eur J Med Genet 2019 Jul 6;62(7):103662. Epub 2019 May 6.

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

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http://dx.doi.org/10.1016/j.ejmg.2019.05.001DOI Listing
July 2019

[A rare form of ion channel gene mutation identified as underlying cause of generalized epilepsy].

Orv Hetil 2019 May;160(21):835-838

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

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http://dx.doi.org/10.1556/650.2019.31404DOI Listing
May 2019

Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type.

Eur J Med Genet 2019 Apr 27:103655. Epub 2019 Apr 27.

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

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183073
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http://dx.doi.org/10.1016/j.ejmg.2019.04.012DOI Listing
April 2019

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

Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene.

Am J Med Genet A 2018 02 11;176(2):443-449. Epub 2017 Dec 11.

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

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http://doi.wiley.com/10.1002/ajmg.a.38566
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http://dx.doi.org/10.1002/ajmg.a.38566DOI Listing
February 2018

CYP2C9 and VKORC1 in therapeutic dosing and safety of acenocoumarol treatment: implication for clinical practice in Hungary.

Environ Toxicol Pharmacol 2017 Dec 8;56:282-289. Epub 2017 Oct 8.

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

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http://dx.doi.org/10.1016/j.etap.2017.10.003DOI Listing
December 2017

[Rhabdomyolysis - may it be a metabolic myopathy? Case report and diagnostic algorithm].

Orv Hetil 2017 Nov;158(47):1873-1882

I. Gyermekgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest.

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http://dx.doi.org/10.1556/650.2017.30923DOI Listing
November 2017

Marked Differences of Haplotype Tagging SNP Distribution, Linkage, and Haplotype Profile of APOA5 Gene in Roma Population Samples.

Pathol Oncol Res 2017 Oct 19;23(4):853-861. Epub 2017 Jan 19.

Department of Medical Genetics, Clinical Center, University of Pecs, Hungary, Szigeti Street 12, Pecs, H-7624, Hungary.

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http://link.springer.com/10.1007/s12253-017-0197-3
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http://dx.doi.org/10.1007/s12253-017-0197-3DOI Listing
October 2017

[Neuroacanthocytosis diagnosis with new generation whole exome sequencing].

Orv Hetil 2017 Oct;158(42):1681-1684

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

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http://dx.doi.org/10.1556/650.2017.30880DOI Listing
October 2017

Refining the South Asian Origin of the Romani people.

BMC Genet 2017 08 31;18(1):82. Epub 2017 Aug 31.

University of Pecs, Szentagothai Research Centre, Ifjusag Road 20, Pecs, H-7624, Hungary.

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http://dx.doi.org/10.1186/s12863-017-0547-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5580230PMC
August 2017

[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

On the distribution of intranuclear and cytoplasmic aggregates in the brainstem of patients with spinocerebellar ataxia type 2 and 3.

Brain Pathol 2017 05 2;27(3):345-355. Epub 2016 Aug 2.

Institute of Clinical Neuroanatomy, Department of Anatomy II, J.W. Goethe-University, Frankfurt, Germany.

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http://dx.doi.org/10.1111/bpa.12412DOI Listing
May 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

Cytochrome P450 Drug Metabolizing Enzymes in Roma Population Samples: Systematic Review of the Literature.

Curr Med Chem 2016 ;23(31):3632-3652

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

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http://dx.doi.org/10.2174/0929867323666160809092455DOI Listing
February 2017

single nucleotide polymorphisms could be either beneficial or harmful in ulcerative colitis.

World J Gastroenterol 2017 Jan;23(3):447-454

Sarah Fischer, Patrícia Sarlós, Division of Gastroenterology, 1 Department of Internal Medicine, University of Pécs, 7624 Pécs, Hungary.

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http://dx.doi.org/10.3748/wjg.v23.i3.447DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5291849PMC
January 2017

Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women.

JAMA Psychiatry 2016 05;73(5):497-505

Schizophrenia Research Institute, Sydney, Australia23School of Biomedical Sciences and Pharmacy, University of Newcastle, Callaghan, Australia.

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http://dx.doi.org/10.1001/jamapsychiatry.2016.0129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785705PMC
May 2016

Kleefstra syndrome in Hungarian patients: additional symptoms besides the classic phenotype.

Mol Cytogenet 2016 25;9:22. Epub 2016 Feb 25.

Department of Medical Genetics, Clinical Center, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary ; Szentagothai Research Center, University of Pecs, Ifjusag 20, H-7624 Pecs, Hungary.

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http://dx.doi.org/10.1186/s13039-016-0231-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4766673PMC
February 2016

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

Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs.

Mol Genet Metab 2015 Dec 5;116(4):223-5. Epub 2015 Nov 5.

NIH Undiagnosed Diseases Program, National Human Genome Research Institute, National Institutes of Health, United States.

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http://dx.doi.org/10.1016/j.ymgme.2015.11.003DOI Listing
December 2015

[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

[Catch-22? Wide variety of phenotypes associated with the chromosome 22q11 deletion syndrome in two patients].

Orv Hetil 2015 Nov;156(45):1834-8

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

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http://dx.doi.org/10.1556/650.2015.30283DOI Listing
November 2015

Genome Sequences of Three Turkey Orthoreovirus Strains Isolated in Hungary.

Genome Announc 2015 Nov 19;3(6). Epub 2015 Nov 19.

Institute for Veterinary Medical Research, Centre of Agricultural Research, Hungarian Academy of Sciences, Budapest, Hungary

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http://dx.doi.org/10.1128/genomeA.01333-15DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4653784PMC
November 2015

Functional variants of lipid level modifier MLXIPL, GCKR, GALNT2, CILP2, ANGPTL3 and TRIB1 genes in healthy Roma and Hungarian populations.

Pathol Oncol Res 2015 Jul 9;21(3):743-9. Epub 2015 Jan 9.

Department of Medical Genetics, Clinical Centre, University of Pecs, Szigeti u. 12, Pecs, H-7624, Hungary,

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http://dx.doi.org/10.1007/s12253-014-9884-5DOI Listing
July 2015

Interethnic variability of CYP4F2 (V433M) in admixed population of Roma and Hungarians.

Environ Toxicol Pharmacol 2015 Jul 22;40(1):280-3. Epub 2015 May 22.

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

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http://dx.doi.org/10.1016/j.etap.2015.05.008DOI Listing
July 2015

Increased prevalence of functional minor allele variants of drug metabolizing CYP2B6 and CYP2D6 genes in Roma population samples.

Pharmacol Rep 2015 Jun 27;67(3):460-4. Epub 2014 Nov 27.

Department of Medical Genetics, University of Pecs, Pecs, Hungary; Szentagothai Research Centre, University of Pecs, Pecs, Hungary. Electronic address:

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http://dx.doi.org/10.1016/j.pharep.2014.11.006DOI Listing
June 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

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 25;8:41. Epub 2015 Jun 25.

Department of Medical Genetics, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary ; Szentagothai Research Centre, Ifjusag 20, H-7624 Pecs, Hungary.

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http://dx.doi.org/10.1186/s13039-015-0137-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479342PMC
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

Partial trisomy of the pericentromeric region of chromosome 5 in a girl with binder phenotype.

Cytogenet Genome Res 2014 20;144(3):190-5. Epub 2014 Dec 20.

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

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http://dx.doi.org/10.1159/000369653DOI Listing
April 2015

Epilepsy in Rett syndrome--lessons from the Rett networked database.

Epilepsia 2015 Apr 19;56(4):569-76. Epub 2015 Mar 19.

Pediatric Neurology Unit and Rett National Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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http://dx.doi.org/10.1111/epi.12941DOI Listing
April 2015

Phenotypic variability in a Hungarian patient with the 4q21 microdeletion syndrome.

Mol Cytogenet 2015 3;8:16. Epub 2015 Mar 3.

Department of Medical Genetics, Clinical Centre, University of Pecs, Szigeti Street 12, Pecs, H-7624 Hungary.

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http://dx.doi.org/10.1186/s13039-015-0118-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4359765PMC
March 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

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

[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

Genetic polymorphisms in promoter and intronic regions of CYP1A2 gene in Roma and Hungarian population samples.

Environ Toxicol Pharmacol 2014 Nov 28;38(3):814-20. Epub 2014 Sep 28.

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

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http://dx.doi.org/10.1016/j.etap.2014.09.012DOI Listing
November 2014

[Attention deficit hyperactivity disorder analyzed with array comparative genome hybridization method. Case report].

Orv Hetil 2014 Oct;155(40):1598-601

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

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http://dx.doi.org/10.1556/OH.2014.30006DOI Listing
October 2014

Lower carrier rate of GJB2 W24X ancestral Indian mutation in Roma samples from Hungary: implication for public health intervention.

Mol Biol Rep 2014 Sep 27;41(9):6105-10. Epub 2014 Jun 27.

Department of Medical Genetics, Clinical Centre, University of Pecs, Szigeti 12, Pecs, 7624, Hungary,

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http://dx.doi.org/10.1007/s11033-014-3488-8DOI Listing
September 2014

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.

Brain 2014 Sep 26;137(Pt 9):2444-55. Epub 2014 Jun 26.

4 AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Department of Genetics and Cytogenetics, F-75013, Paris, France5 Inserm U 1127, CNRS UMR 7225, Sorbonne Universités, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France27 Ecole Pratique des Hautes Etudes, heSam Université, laboratoire de neurogénétique, ICM, Groupe Hospitalier Pitié-Salpêtrière, F-75013 Paris, France.

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http://dx.doi.org/10.1093/brain/awu174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4132646PMC
September 2014

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.nature.com/doifinder/10.1038/nature13673
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4170574PMC
September 2014

Interleukins and interleukin receptors in rheumatoid arthritis: Research, diagnostics and clinical implications.

World J Orthop 2014 Sep 18;5(4):516-36. Epub 2014 Sep 18.

Lili Magyari, Erzsebet Kovesdi, Katalin Sumegi, Zsolt Banfai, Bela Melegh, Department of Medical Genetics, University of Pecs, 7624 Pecs, Hungary.

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http://dx.doi.org/10.5312/wjo.v5.i4.516DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4133458PMC
September 2014

Genetic update on inflammatory factors in ulcerative colitis: Review of the current literature.

World J Gastrointest Pathophysiol 2014 Aug;5(3):304-21

Patricia Sarlos, 1 Department of Internal Medicine, University of Pecs, 7623 Pecs, Hungary.

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http://www.wjgnet.com/2150-5330/full/v5/i3/304.htm
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http://dx.doi.org/10.4291/wjgp.v5.i3.304DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4133528PMC
August 2014

Deletion of 4q28.3-31.23 in the background of multiple malformations with pulmonary hypertension.

Mol Cytogenet 2014 5;7:36. Epub 2014 Jun 5.

Department of Medical Genetics, Clinical Centre, University of Pecs, Szigeti 12, Pecs H-7624, Hungary ; Szentágothai Research Centre, University of Pecs, Ifjusag 20, Pecs H-7624, Hungary.

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http://dx.doi.org/10.1186/1755-8166-7-36DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4066825PMC
June 2014

Polymorphisms in glutathione S-transferase are risk factors for perioperative acute myocardial infarction after cardiac surgery: a preliminary study.

Mol Cell Biochem 2014 Apr 17;389(1-2):79-84. Epub 2014 Jan 17.

Department of Surgical Research and Techniques, Medical Faculty, University of Pécs, 20 Kodály Z Street, Pecs, 7624, Hungary.

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http://dx.doi.org/10.1007/s11010-013-1929-7DOI Listing
April 2014

[Identifying rare genomic disorders with array comparative genomic hybridization in Hungary].

Orv Hetil 2014 Mar;155(9):358-61

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

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http://dx.doi.org/10.1556/OH.2014.29825DOI Listing
March 2014

Interleukin and interleukin receptor gene polymorphisms in inflammatory bowel diseases susceptibility.

World J Gastroenterol 2014 Mar;20(12):3208-22

Lili Magyari, Erzsebet Kovesdi, Katalin Sumegi, Bela Melegh, Department of Medical Genetics, University of Pecs, 7624 Pecs, Hungary.

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http://dx.doi.org/10.3748/wjg.v20.i12.3208DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3964393PMC
March 2014

Exome sequencing identifies Laing distal myopathy MYH7 mutation in a Roma family previously diagnosed with distal neuronopathy.

Neuromuscul Disord 2014 Feb 11;24(2):156-61. Epub 2013 Nov 11.

Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.

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http://dx.doi.org/10.1016/j.nmd.2013.10.010DOI Listing
February 2014

Marked differences of haplotype tagging SNP distribution, linkage, and haplotype profile of IL23 receptor gene in Roma and Hungarian population samples.

Cytokine 2014 Feb 11;65(2):148-52. Epub 2013 Dec 11.

Department of Medical Genetics, University of Pecs, Szigeti 12, H-7624 Pecs, Hungary; Szentagothai Research Centre, Ifjusag 20, H-7624 Pecs, Hungary. Electronic address:

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http://dx.doi.org/10.1016/j.cyto.2013.11.011DOI Listing
February 2014

Susceptibility to ulcerative colitis in Hungarian patients determined by gene-gene interactions.

World J Gastroenterol 2014 Jan;20(1):219-27

Patricia Sarlos, 1 Department of Internal Medicine, University of Pecs, 7623 Pecs, Hungary.

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http://dx.doi.org/10.3748/wjg.v20.i1.219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3886011PMC
January 2014

Detection and characterization of a divergent avian reovirus strain from a broiler chicken with central nervous system disease.

Arch Virol 2013 Dec 16;158(12):2583-8. Epub 2013 Jun 16.

Institute for Veterinary Medical Research, Centre of Agricultural Research, Hungarian Academy of Sciences, Budapest, P.O. Box 18, 1581, Hungary.

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http://dx.doi.org/10.1007/s00705-013-1739-yDOI Listing
December 2013

Association of myasthenia gravis with polymorphisms in the gene of histamine N-methyltransferase.

Hum Immunol 2013 Dec 7;74(12):1701-4. Epub 2013 Aug 7.

Division of Clinical and Experimental Neuroimmunology, Department of Neurology, University of Pecs, Pecs, Hungary.

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http://dx.doi.org/10.1016/j.humimm.2013.07.016DOI Listing
December 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

Zoonotic transmission of reassortant porcine G4P[6] rotaviruses in Hungarian pediatric patients identified sporadically over a 15 year period.

Infect Genet Evol 2013 Oct 19;19:71-80. Epub 2013 Jun 19.

Institute for Veterinary Medical Research, Centre for Agricultural Research, Hungarian Academy of Sciences, Budapest, Hungary.

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http://dx.doi.org/10.1016/j.meegid.2013.06.013DOI Listing
October 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

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

[Novel TSC1 mutation associated with variable phenotypes in tuberous sclerosis].

Orv Hetil 2013 Jun;154(23):914-8

Pécsi Tudományegyetem Klinikai Központ, Orvosi Genetikai Intézet Pécs Szigeti út 12. 7623 Pécsi Tudományegyetem, Általános Orvostudomáyi Kar, Szentágothai Kutatóközpont, Pécs.

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http://dx.doi.org/10.1556/OH.2013.29634DOI Listing
June 2013

[Larsen-syndrome: final diagnosis following multiple surgical interventions].

Orv Hetil 2013 Jan;154(4):143-6

Pécsi Tudományegyetem Klinikai Központ, Orvosi Genetikai Intézet Pécs József A. út 7. 7623 Pécsi Tudományegyetem Szentágothai Kutatóközpont Pécs.

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http://dx.doi.org/10.1556/OH.2013.29534DOI Listing
January 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

Jumping translocation of 15q24-qter resulting in partial trisomy: a case report.

Gene 2012 Jul 21;503(1):155-9. Epub 2012 Apr 21.

Department of Medical Genetics, University of Pécs, H-7623 Pécs, Hungary.

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http://dx.doi.org/10.1016/j.gene.2012.04.022DOI Listing
July 2012

Automated signal pattern evaluation of a bladder cancer specific multiprobe-fish assay applying a user-trainable workstation.

Microsc Res Tech 2012 Jun 23;75(6):814-20. Epub 2011 Dec 23.

Department of Pathology, Faculty of Medicine, University of Pécs, Pécs, Hungary.

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http://dx.doi.org/10.1002/jemt.21131DOI Listing
June 2012

[Molecular genetic diagnosis of Friedreich's ataxia. Ten years experience based on blood sample analysis].

Orv Hetil 2012 Jun;153(22):852-5

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

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http://dx.doi.org/10.1556/OH.2012.29372DOI Listing
June 2012