Publications by authors named "Marianthi Georgitsi"

36Publications

Association between CUBN gene variants, type 2 diabetes and vitamin D concentrations in an elderly Greek population.

J Steroid Biochem Mol Biol 2020 04 23;198:105549. Epub 2019 Nov 23.

Division of Endocrinology and Metabolism and Diabetes Center, First Department of Internal Medicine, Medical School, Aristotle University of Thessaloniki, AHEPA University Hospital, Thessaloniki, Greece. Electronic address:

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http://dx.doi.org/10.1016/j.jsbmb.2019.105549DOI Listing
April 2020

Assessment of association between lipoxygenase genes variants in elderly Greek population and type 2 diabetes mellitus.

Diab Vasc Dis Res 2018 07 2;15(4):340-343. Epub 2018 Feb 2.

1 Division of Endocrinology and Metabolism-Diabetes Center, 1st Internal Medicine Department, Medical School, AHEPA University Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.

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http://journals.sagepub.com/doi/10.1177/1479164118756241
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http://dx.doi.org/10.1177/1479164118756241DOI Listing
July 2018

Association of ALOX12 gene polymorphism with all-cause and cardiovascular mortality in diabetic nephropathy.

Int Urol Nephrol 2018 Feb 1;50(2):321-329. Epub 2017 Dec 1.

Department of Nephrology, Medical School, Democritus University of Thrace, Alexandroupolis, Greece.

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http://dx.doi.org/10.1007/s11255-017-1755-zDOI Listing
February 2018

Variant Ranker: a web-tool to rank genomic data according to functional significance.

BMC Bioinformatics 2017 Jul 17;18(1):341. Epub 2017 Jul 17.

Department of Molecular Biology and Genetics, Democritus University of Thrace, Panepistimioupoli, Dragana, Alexandroupolis, 68100, Greece.

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http://dx.doi.org/10.1186/s12859-017-1752-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5514526PMC
July 2017

The Genetic Etiology of Tourette Syndrome: Large-Scale Collaborative Efforts on the Precipice of Discovery.

Front Neurosci 2016 3;10:351. Epub 2016 Aug 3.

Department of Molecular Biology and Genetics, Democritus University of Thrace Alexandroupoli, Greece.

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http://dx.doi.org/10.3389/fnins.2016.00351DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4971013PMC
August 2016

Genetic databases in pharmacogenomics: the Frequency of Inherited Disorders Database (FINDbase).

Methods Mol Biol 2013 ;1015:321-36

Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece.

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http://dx.doi.org/10.1007/978-1-62703-435-7_21DOI Listing
February 2014

Functional analysis of a novel KLF1 gene promoter variation associated with hereditary persistence of fetal hemoglobin.

Ann Hematol 2013 Jan 18;92(1):53-8. Epub 2012 Nov 18.

Institute of Molecular Genetics and Genetic Engineering, Laboratory for Molecular Hematology, University of Belgrade, Vojvode Stepe 444a, 11010, Belgrade, Serbia.

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http://dx.doi.org/10.1007/s00277-012-1625-9DOI Listing
January 2013

Genetics of myasthenia gravis: a case-control association study in the Hellenic population.

Clin Dev Immunol 2012 25;2012:484919. Epub 2012 Sep 25.

Laboratory of Molecular Biology and Immunology, Department of Pharmacy, School of Health Sciences, University of Patras, Rion, 26504 Patras, Greece.

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http://dx.doi.org/10.1155/2012/484919DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3463197PMC
May 2013

A single nucleotide polymorphism in the HBBP1 gene in the human β-globin locus is associated with a mild β-thalassemia disease phenotype.

Hemoglobin 2012 ;36(5):433-45

Laboratory of Molecular Biology and Immunology, Department of Pharmacy, School of Health Sciences, University of Patras, University Campus, Rion, Patras, Greece.

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http://dx.doi.org/10.3109/03630269.2012.717515DOI Listing
January 2013

Population-ethnic group specific genome variation allele frequency data: a querying and visualization journey.

Genomics 2012 Aug 30;100(2):93-101. Epub 2012 May 30.

Department of Computer Engineering and Informatics, University of Patras, Patras, Greece.

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http://dx.doi.org/10.1016/j.ygeno.2012.05.009DOI Listing
August 2012

Transcriptional regulation and pharmacogenomics.

Pharmacogenomics 2011 May;12(5):655-73

Department of Pharmacy, School of Health Sciences, University of Patras, 26504 Rion, Patras, Greece.

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http://dx.doi.org/10.2217/pgs.10.215DOI Listing
May 2011

First report of Hb A2-NYU (HBD:c.39T>A) in the Hellenic population.

Hemoglobin 2011 ;35(1):91-5

University of Patras, School of Health Sciences, Department of Pharmacy, Patras, Greece.

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http://dx.doi.org/10.3109/03630269.2011.549071DOI Listing
June 2011

FINDbase: a worldwide database for genetic variation allele frequencies updated.

Nucleic Acids Res 2011 Jan 27;39(Database issue):D926-32. Epub 2010 Nov 27.

Department of Pharmacy, School of Health Sciences, Faculty of Engineering, University of Patras, Patras, Greece.

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http://dx.doi.org/10.1093/nar/gkq1236DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3013745PMC
January 2011

MEN-4 and other multiple endocrine neoplasias due to cyclin-dependent kinase inhibitors (p27(Kip1) and p18(INK4C)) mutations.

Best Pract Res Clin Endocrinol Metab 2010 Jun;24(3):425-37

Laboratory of Molecular Biology and Immunology, Department of Pharmacy, School of Health Sciences, University of Patras, 26500 Rio, Greece.

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http://dx.doi.org/10.1016/j.beem.2010.01.001DOI Listing
June 2010

Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study.

J Clin Endocrinol Metab 2010 Nov 4;95(11):E373-83. Epub 2010 Aug 4.

Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium.

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http://dx.doi.org/10.1210/jc.2009-2556DOI Listing
November 2010

Impact of ACE and ApoE polymorphisms on myocardial perfusion: correlation with myocardial single photon emission computed tomographic imaging.

J Hum Genet 2009 Oct 28;54(10):595-602. Epub 2009 Aug 28.

Department of Nuclear Medicine, School of Medicine, University of Thessaly, University Hospital of Larissa, Larissa, Greece.

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http://dx.doi.org/10.1038/jhg.2009.83DOI Listing
October 2009

Aggressive pituitary adenomas occurring in young patients in a large Polynesian kindred with a germline R271W mutation in the AIP gene.

Eur J Endocrinol 2009 Nov 14;161(5):799-804. Epub 2009 Aug 14.

Department of Endocrinology and Diabetes and Centre for Hormone Research, The Murdoch Childrens Research Institute and The Royal Children's Hospital, Flemington Road, Parkville, Melbourne, Victoria 3052, Australia.

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https://eje.bioscientifica.com/view/journals/eje/161/5/799.x
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http://dx.doi.org/10.1530/EJE-09-0406DOI Listing
November 2009

Genetic recombination as a major cause of mutagenesis in the human globin gene clusters.

Clin Biochem 2009 Dec 22;42(18):1839-50. Epub 2009 Jul 22.

Erasmus MC, Faculty of Medicine and Health Sciences, MGC-Department of Cell Biology and Genetics, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.clinbiochem.2009.07.014DOI Listing
December 2009

Large genomic deletions in AIP in pituitary adenoma predisposition.

J Clin Endocrinol Metab 2008 Oct 15;93(10):4146-51. Epub 2008 Jul 15.

Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, 00014 Helsinki, Finland.

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http://dx.doi.org/10.1210/jc.2008-1003DOI Listing
October 2008