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List of works by Luca Lovrecić

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

scientific article published on 8 September 2016

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

scientific article published on 19 April 2016

ADP-Ribosylation Factor Guanine Nucleotide-Exchange Factor 2 (ARFGEF2): A New Potential Biomarker in Huntington's Disease ⬇️

scientific article published on September 1, 2010

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

scientific article

Angiotensin-converting enzyme I/D gene polymorphism and risk of multiple sclerosis.

scientific article

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

scientific article published on 23 June 2011

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

scientific article published on 20 April 2017

Association of circadian rhythm genes ARNTL/BMAL1 and CLOCK with multiple sclerosis.

scientific article published on 11 January 2018

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

scientific article

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

scientific article published on 23 March 2017

Clinical utility of array comparative genomic hybridisation in prenatal setting

scientific article

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

scientific article published on 14 September 2017

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

scientific article published on 21 March 2018

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

scientific article

Epidemiology of Huntington's disease in Slovenia.

scientific article published on 22 October 2008

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

scientific article

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

scientific article published in November 2009

Genome-wide expression profiling of human blood reveals biomarkers for Huntington's disease.

scientific article

Heterogeneity of the triple A syndrome and assessment of a case

scientific article published on 01 January 2006

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

scientific article published in May 2005

Interstitial deletion 2p11.2-p12: further delineation

scientific article published on 01 October 2009

Legislation of direct-to-consumer genetic testing in Europe: a fragmented regulatory landscape.

scientific article published on 18 November 2017

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

scientific article published on 02 July 2015

Microduplication in the 2p16.1p15 chromosomal region linked to developmental delay and intellectual disability.

scientific article

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

scientific article published in August 2005

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

scientific article

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

scientific article published on July 2015

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

scientific article

Points to consider for laboratories reporting results from diagnostic genomic sequencing

scientific article published on 28 November 2017

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

scientific article published on 27 June 2006

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

scientific article

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

scientific article

The interleukin-1 receptor antagonist gene and the inhibitor of kappa B-like protein gene polymorphisms are not associated with myocardial infarction in Slovene population with type 2 diabetes.

scientific article

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

scientific article

Therapeutic perspectives of epigenetically active nutrients.

scientific article published on 15 December 2014

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

scientific article published on October 2017

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

scientific article published on 27 August 2015

Tumor necrosis factor-alpha-308 gene polymorphism in Croatian and Slovenian multiple sclerosis patients

scientific article published on 12 January 2007

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