Andrea Zatkova

Andrea Zatkova

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Andrea Zatkova

Andrea Zatkova

Publications by authors named "Andrea Zatkova"

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19Publications

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Degenerative Osteoarthritis with Multiple Joint Arthroplasties Due to Alkaptonuria, a Rare Inborn Error of Tyrosine Metabolism.

Isr Med Assoc J 2018 Apr;20(4):260-261

Pediatric Department B, Emek Medical Center, Afula, Israel.

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April 2018

The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation.

Gen Physiol Biophys 2017 Apr 2;36(2):205-210. Epub 2017 Feb 2.

Department of Molecular Biology, Comenius University, Faculty of Natural Sciences, Mlynska dolina, Ilkovicova 6, 842 15 Bratislava, Slovakia.

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http://www.elis.sk/index.php?page=shop.product_details&f
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http://dx.doi.org/10.4149/gpb_2016032DOI Listing
April 2017

ApreciseKUre: an approach of Precision Medicine in a Rare Disease.

BMC Med Inform Decis Mak 2017 Apr 14;17(1):42. Epub 2017 Apr 14.

Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy.

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http://dx.doi.org/10.1186/s12911-017-0438-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5391600PMC
April 2017

Mutation screening of the HGD gene identifies a novel alkaptonuria mutation with significant founder effect and high prevalence.

Ann Hum Genet 2014 May 12;78(3):155-64. Epub 2014 Feb 12.

Department of Biotechnology & Genetic Engineering, Bharathidasan University, Tiruchirapalli, Tamil Nadu, India.

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http://dx.doi.org/10.1111/ahg.12055DOI Listing
May 2014

Thirty-nine novel neurofibromatosis 1 (NF1) gene mutations identified in Slovak patients.

Ann Hum Genet 2013 Sep 12;77(5):364-79. Epub 2013 Jun 12.

Laboratory of Genetics, Institute of Molecular Physiology and Genetics, Bratislava, Slovakia.

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http://dx.doi.org/10.1111/ahg.12026DOI Listing
September 2013

Analysis of Leucine-rich repeat kinase 2 (LRRK2) and Parkinson protein 2 (parkin, PARK2) genes mutations in Slovak Parkinson disease patients.

Gen Physiol Biophys 2013 Mar;32(1):55-66

Department of Molecular Biology, Comenius University, Bratislava, Slovak Republic.

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http://dx.doi.org/10.4149/gpb2013006DOI Listing
March 2013

Identification of 11 Novel Homogentisate 1,2 Dioxygenase Variants in Alkaptonuria Patients and Establishment of a Novel LOVD-Based HGD Mutation Database.

JIMD Rep 2012 20;4:55-65. Epub 2011 Oct 20.

Laboratory of Genetics, Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Vlarska 5, 833 34, Bratislava, Slovakia,

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http://dx.doi.org/10.1007/8904_2011_68DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3509877PMC
February 2013

An update on molecular genetics of Alkaptonuria (AKU).

Authors:
Andrea Zatkova

J Inherit Metab Dis 2011 Dec 1;34(6):1127-36. Epub 2011 Jul 1.

Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Vlarska 5, 833 34, Bratislava, Slovakia.

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http://link.springer.com/content/pdf/10.1007/s10545-011-9363
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http://link.springer.com/10.1007/s10545-011-9363-z
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http://dx.doi.org/10.1007/s10545-011-9363-zDOI Listing
December 2011

A patient with de novo AML M1 and t(16;21) with karyotype evolution.

Leuk Res 2007 Sep 28;31(9):1319-21. Epub 2006 Nov 28.

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http://dx.doi.org/10.1016/j.leukres.2006.10.010DOI Listing
September 2007

GAB2 is a novel target of 11q amplification in AML/MDS.

Genes Chromosomes Cancer 2006 Sep;45(9):798-807

Abteilung für Humangenetik, Klinisches Institut für Medizinische und Chemische Labor Diagnostik (KIMCL), Medizinische Universität Wien, Währinger Strasse 10, A-1090 Vienna, Austria.

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http://dx.doi.org/10.1002/gcc.20344DOI Listing
September 2006