Luca Lovrecic

Luca Lovrecic

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Luca Lovrecic

Luca Lovrecic

Publications by authors named "Luca Lovrecic"

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34Publications

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The frequency of CNVs in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancy.

Mol Genet Genomic Med 2019 Jun 19;7(6):e658. Epub 2019 Apr 19.

Clinical Institute of Medical Genetics (CIMG), University Medical Centre Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.1002/mgg3.658DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6565594PMC
June 2019

Diagnostic efficacy and new variants in isolated and complex autism spectrum disorder using molecular karyotyping.

J Appl Genet 2018 May 21;59(2):179-185. Epub 2018 Mar 21.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Slajmerjeva 4, 1000, Ljubljana, Slovenia.

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http://link.springer.com/10.1007/s13353-018-0440-y
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http://dx.doi.org/10.1007/s13353-018-0440-yDOI Listing
May 2018

Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases.

Genet Med 2018 03 14;20(3):303-312. Epub 2017 Sep 14.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.1038/gim.2017.142DOI Listing
March 2018

Transcriptome Profiling Uncovers Potential Common Mechanisms in Fetal Trisomies 18 and 21.

OMICS 2017 10;21(10):565-570

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana , Ljubljana, Slovenia .

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http://dx.doi.org/10.1089/omi.2017.0123DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5655413PMC
October 2017

Angiotensin-converting enzyme insertion/deletion gene polymorphism and interferon-β treatment response in multiple sclerosis patients: a preliminary report.

Pharmacogenet Genomics 2017 06;27(6):232-235

aDepartment of Biology and Medical Genetics bSchool of Medicine, University of Rijeka cDepartment of Neurology, Clinical Hospital Center Rijeka, Rijeka, Croatia dClinical Institute of Medical Genetics eDepartment of Neurology, University Medical Centre, Ljubljana, Slovenia.

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http://dx.doi.org/10.1097/FPC.0000000000000283DOI Listing
June 2017

Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features.

Mol Cytogenet 2017 23;10:10. Epub 2017 Mar 23.

University Children's Hospital, University Medical Centre Ljubljana, Unit for Special Laboratory Diagnostic, Vrazov trg 1, SI-1525 Ljubljana, Slovenia.

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http://dx.doi.org/10.1186/s13039-017-0312-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5364691PMC
March 2017

11q terminal deletion and combined immunodeficiency (Jacobsen syndrome): Case report and literature review on immunodeficiency in Jacobsen syndrome.

Am J Med Genet A 2016 12 8;170(12):3237-3240. Epub 2016 Sep 8.

Unit of Special Laboratory Diagnostics, Children's Hospital Ljubljana, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.1002/ajmg.a.37859DOI Listing
December 2016

Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation.

Genet Med 2016 11 31;18(11):1102-1110. Epub 2016 Mar 31.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.1038/gim.2016.22DOI Listing
November 2016

Clinical utility of array comparative genomic hybridisation in prenatal setting.

BMC Med Genet 2016 Nov 15;17(1):81. Epub 2016 Nov 15.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Slajmerjeva 3, SI-1000, Ljubljana, Slovenia.

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http://dx.doi.org/10.1186/s12881-016-0345-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111187PMC
November 2016

Transcriptomic Analysis and Meta-Analysis of Human Granulosa and Cumulus Cells.

PLoS One 2015 27;10(8):e0136473. Epub 2015 Aug 27.

Department of Medical Genetics, Division of Obstetrics and Gynaecology, University Medical Centre, Slajmerjeva 4, Ljubljana, Slovenia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0136473PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4552299PMC
May 2016

A New Case of an Extremely Rare 3p21.31 Interstitial Deletion.

Mol Syndromol 2016 May 19;7(2):93-8. Epub 2016 Apr 19.

Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Center Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.1159/000445227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4906427PMC
May 2016

No specific gene expression signature in human granulosa and cumulus cells for prediction of oocyte fertilisation and embryo implantation.

PLoS One 2015 13;10(3):e0115865. Epub 2015 Mar 13.

Clinical Institute of Medical Genetics, Division of Obstetrics and Gynaecology, University Medical Centre, Slajmerjeva 3, SI-1000 Ljubljana, Slovenia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0115865PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4359149PMC
March 2016

Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss.

Mol Cytogenet 2015 31;8:83. Epub 2015 Oct 31.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Slajmerjeva 3, SI-1000 Ljubljana, Slovenia.

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http://www.molecularcytogenetics.org/content/8/1/83
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http://dx.doi.org/10.1186/s13039-015-0187-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628305PMC
November 2015

MMP-2 -1575G/A polymorphism modifies the onset of optic neuritis as a first presenting symptom in MS?

J Neuroimmunol 2015 Sep 2;286:13-5. Epub 2015 Jul 2.

Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, Rijeka, Croatia. Electronic address:

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http://dx.doi.org/10.1016/j.jneuroim.2015.06.014DOI Listing
September 2015

Nutriepigenomics: the role of nutrition in epigenetic control of human diseases.

Curr Opin Clin Nutr Metab Care 2015 Jul;18(4):328-33

aDepartment of Nutritional Sciences, University Vienna, Vienna, Austria bDepartment of Nutrition Science, Purdue University, West Lafaytte, Indiana, USA cDepartment of Gynecology and Obstetrics, Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.1097/MCO.0000000000000180DOI Listing
July 2015

Specific gene expression differences in cumulus cells as potential biomarkers of pregnancy.

Reprod Biomed Online 2015 Apr 12;30(4):426-33. Epub 2015 Jan 12.

Clinical Institute of Medical Genetics, Division of Obstetrics and Gynaecology, University Medical Centre, Šlajmerjeva 3, SI-1000 Ljubljana, Slovenia. Electronic address:

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http://dx.doi.org/10.1016/j.rbmo.2014.12.011DOI Listing
April 2015

Direct-to-consumer genetic testing in Slovenia: availability, ethical dilemmas and legislation.

Biochem Med (Zagreb) 2015 ;25(1):84-9

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.11613/BM.2015.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4401315PMC
March 2015

The role of TPA I/D and PAI-1 4G/5G polymorphisms in multiple sclerosis.

Dis Markers 2014 16;2014:362708. Epub 2014 Apr 16.

Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, 51000 Rijeka, Croatia ; Department of Neurology, Clinical Hospital Center Rijeka, 51000 Rijeka, Croatia.

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http://dx.doi.org/10.1155/2014/362708DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4009184PMC
January 2015

Expression signature as a biomarker for prenatal diagnosis of trisomy 21.

PLoS One 2013 16;8(9):e74184. Epub 2013 Sep 16.

Clinical Institute of Medical Genetics, Department of Obstetrics and Gynecology, University Medical Center, Ljubljana, Ljubljana, Slovenia.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0074184PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3774664PMC
May 2014

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Authors:
Catherine A Brownstein Alan H Beggs Nils Homer Barry Merriman Timothy W Yu Katherine C Flannery Elizabeth T DeChene Meghan C Towne Sarah K Savage Emily N Price Ingrid A Holm Lovelace J Luquette Elaine Lyon Joseph Majzoub Peter Neupert David McCallie Peter Szolovits Huntington F Willard Nancy J Mendelsohn Renee Temme Richard S Finkel Sabrina W Yum Livija Medne Shamil R Sunyaev Ivan Adzhubey Christopher A Cassa Paul I W de Bakker Hatice Duzkale Piotr Dworzyński William Fairbrother Laurent Francioli Birgit H Funke Monica A Giovanni Robert E Handsaker Kasper Lage Matthew S Lebo Monkol Lek Ignaty Leshchiner Daniel G MacArthur Heather M McLaughlin Michael F Murray Tune H Pers Paz P Polak Soumya Raychaudhuri Heidi L Rehm Rachel Soemedi Nathan O Stitziel Sara Vestecka Jochen Supper Claudia Gugenmus Bernward Klocke Alexander Hahn Max Schubach Mortiz Menzel Saskia Biskup Peter Freisinger Mario Deng Martin Braun Sven Perner Richard J H Smith Janeen L Andorf Jian Huang Kelli Ryckman Val C Sheffield Edwin M Stone Thomas Bair E Ann Black-Ziegelbein Terry A Braun Benjamin Darbro Adam P DeLuca Diana L Kolbe Todd E Scheetz Aiden E Shearer Rama Sompallae Kai Wang Alexander G Bassuk Erik Edens Katherine Mathews Steven A Moore Oleg A Shchelochkov Pamela Trapane Aaron Bossler Colleen A Campbell Jonathan W Heusel Anne Kwitek Tara Maga Karin Panzer Thomas Wassink Douglas Van Daele Hela Azaiez Kevin Booth Nic Meyer Michael M Segal Marc S Williams Gerard Tromp Peter White Donald Corsmeier Sara Fitzgerald-Butt Gail Herman Devon Lamb-Thrush Kim L McBride David Newsom Christopher R Pierson Alexander T Rakowsky Aleš Maver Luca Lovrečić Anja Palandačić Borut Peterlin Ali Torkamani Anna Wedell Mikael Huss Andrey Alexeyenko Jessica M Lindvall Måns Magnusson Daniel Nilsson Henrik Stranneheim Fulya Taylan Christian Gilissen Alexander Hoischen Bregje van Bon Helger Yntema Marcel Nelen Weidong Zhang Jason Sager Lu Zhang Kathryn Blair Deniz Kural Michael Cariaso Greg G Lennon Asif Javed Saloni Agrawal Pauline C Ng Komal S Sandhu Shuba Krishna Vamsi Veeramachaneni Ofer Isakov Eran Halperin Eitan Friedman Noam Shomron Gustavo Glusman Jared C Roach Juan Caballero Hannah C Cox Denise Mauldin Seth A Ament Lee Rowen Daniel R Richards F Anthony San Lucas Manuel L Gonzalez-Garay C Thomas Caskey Yu Bai Ying Huang Fang Fang Yan Zhang Zhengyuan Wang Jorge Barrera Juan M Garcia-Lobo Domingo González-Lamuño Javier Llorca Maria C Rodriguez Ignacio Varela Martin G Reese Francisco M De La Vega Edward Kiruluta Michele Cargill Reece K Hart Jon M Sorenson Gholson J Lyon David A Stevenson Bruce E Bray Barry M Moore Karen Eilbeck Mark Yandell Hongyu Zhao Lin Hou Xiaowei Chen Xiting Yan Mengjie Chen Cong Li Can Yang Murat Gunel Peining Li Yong Kong Austin C Alexander Zayed I Albertyn Kym M Boycott Dennis E Bulman Paul M K Gordon A Micheil Innes Bartha M Knoppers Jacek Majewski Christian R Marshall Jillian S Parboosingh Sarah L Sawyer Mark E Samuels Jeremy Schwartzentruber Isaac S Kohane David M Margulies

Genome Biol 2014 Mar 25;15(3):R53. Epub 2014 Mar 25.

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http://dx.doi.org/10.1186/gb-2014-15-3-r53DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4073084PMC
March 2014

Angiotensin-converting enzyme gene polymorphism in patients with multiple sclerosis from Bosnia and Herzegovina.

Genet Test Mol Biomarkers 2011 Nov 23;15(11):835-8. Epub 2011 Jun 23.

Department of Neurology, School of Medicine, University of Mostar, Mostar, Bosnia and Herzegovina.

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http://dx.doi.org/10.1089/gtmb.2010.0257DOI Listing
November 2011

Gene expression changes in blood as a putative biomarker for Huntington's disease.

Mov Disord 2009 Nov;24(15):2277-81

Institute of Medical Genetics, University Medical Centre, Ljubljana, Slovenia.

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http://akastrin.si/papers/lovrecic2009gene.pdf
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http://doi.wiley.com/10.1002/mds.22477
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http://dx.doi.org/10.1002/mds.22477DOI Listing
November 2009

Interstitial deletion 2p11.2-p12: further delineation.

Am J Med Genet A 2009 Oct;149A(10):2324-6

Institute of Medical Genetics, UMC, Ljubljana, Slovenia.

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http://dx.doi.org/10.1002/ajmg.a.33064DOI Listing
October 2009

PAI and TPA gene polymorphisms in multiple sclerosis.

Mult Scler 2008 Mar 6;14(2):243-7. Epub 2007 Nov 6.

Division of Medical Genetics, UMC, Ljubljana, Slovenia.

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http://dx.doi.org/10.1177/1352458507082603DOI Listing
March 2008

Sodium phenylbutyrate in Huntington's disease: a dose-finding study.

Mov Disord 2007 Oct;22(13):1962-4

Department of Neurology, Oregon Health & Science University, Portland, Oregon 97239-3098, USA.

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http://dx.doi.org/10.1002/mds.21632DOI Listing
October 2007

Region with persistent high frequency of multiple sclerosis in Croatia and Slovenia.

J Neurol Sci 2006 Sep 27;247(2):169-72. Epub 2006 Jun 27.

Division of Medical Genetics, UMC, Ljubljana, Slajmerjeva 3, 1000 Ljubljana, Slovenia.

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http://dx.doi.org/10.1016/j.jns.2006.04.002DOI Listing
September 2006

Mutations in the hemochromatosis gene (HFE) and multiple sclerosis.

Neurosci Lett 2005 Aug;383(3):301-4

Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, Braće Branchetta 20, 51000 Rijeka, Croatia.

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http://dx.doi.org/10.1016/j.neulet.2005.04.045DOI Listing
August 2005

Human Y-specific STR haplotypes in the Western Croatian population sample.

Forensic Sci Int 2005 May;149(2-3):257-61

Division of Medical Genetics, Department of Obstetrics and Gynecology, University Medical Center, Slamerjeva 3, 1000 Ljubljana, Slovenia.

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http://dx.doi.org/10.1016/j.forsciint.2004.06.026DOI Listing
May 2005