Anja Kovanda

Optičko genomsko mapiranje

Anja Kovanda, Borut Peterlin

Optical genome mapping (OGM) is a novel method based on image acquisition of single, enzyme labelled, high-molecular-weight DNA molecules, that enables the detection of structural variants (SV). This includes copy neutral SV such as inversions, insertions and balanced translocations in size ranges …

si (code pays fourni par la source)

Optical genome mapping

Anja Kovanda, Borut Peterlin

Optical genome mapping (OGM) is a novel method based on image acquisition of single, enzyme labelled, high-molecular-weight DNA molecules, that enables the detection of structural variants (SV). This includes copy neutral SV such as inversions, insertions and balanced translocations in size ranges …

si (code pays fourni par la source)

GiOPARK Project

Valentino Rački, Gaber Bergant, Eliša Papić, Anja Kovanda et autres

Parkinson's disease is a neurological disorder that affects motor function, autonomic functions, and cognitive abilities.It is likely that both genetic and environmental factors, along with age, contribute to the cause.However, there is no comprehensive guideline for genetic testing for Parkinson's disease, and …

hr, si (code pays fourni par la source)

The landscape of structural variants in male infertility identified by optical genome mapping

Anja Kovanda, Alenka Hodžić, Urška Kotnik, Tanja Višnjar et autres

Abstract STUDY QUESTION [Do structural genomic variants, that can be identified by using optical genome mapping, contribute to male infertility?] SUMMARY ANSWER [By using optical genome mapping we can identify several types of structural variants, both known and new, that may contribute …

si (code pays fourni par la source)

Biallelic RFC1 Expansions Are a Rare Cause of Early‐Onset and Familial Parkinson's Disease

Anja Kovanda, Lara Šušmelj, Helena Jaklič, Tadeja Lukežič et autres

Biallelic pathogenic expansions in RFC1 contribute to the genetic etiology of PD, with a frequency similar to that of other known autosomal recessive PD genes. RFC1-positive PD is currently not clinically distinguishable from RFC1-negative PD, but genetic background may play a role …

si, rs, hr (code pays fourni par la source)

Microbial diversity in drug-naïve Parkinson’s disease patients

Eliša Papić, Valentino Rački, Mario Hero, Ana Nyasha Zimani et autres

Parkinson's disease (PD) is a neurological disorder characterized by rigidity, bradykinesia and tremor. Several genetic and environmental causes of PD are known, and there is emerging evidence of the possible contribution of the gut microbiome to the disease onset, severity, and response …

hr, si (code pays fourni par la source)

Microbial diversity in drug naïve Parkinson's disease patients in Croatia

Eliša Papić, Valentino Rački, Mario Hero, A. Nyasha et autres

hr, si (code pays fourni par la source)

Microbial Diversity in Drug Naïve Parkinson’s Disease Patients

Eliša Papić, Valentino Rački, Mario Hero, Ana Nyasha Zimani et autres

Parkinson’s disease is a neurological disorder characterized by rigidity, bradykinesia and tremor. Several genetic and environmental causes of Parkinson’s disease are known, and there is emerging evidence of the possible contribution of the gut microbiome to the disease onset, severity, and response …

Value of Optical Genome Mapping (OGM) for Diagnostics of Rare Diseases: A Family Case Report

Anja Kovanda, Olivera Miljanović, Luca Lovrečić, Aleš Maver et autres

Optical genome mapping (OGM) is a novel method enabling the detection of structural genomic variants. The method is based on the laser image acquisition of single, labeled, high-molecular-weight DNA molecules and can detect structural genomic variants such as translocations, inversions, insertions, deletions, …

si, me (code pays fourni par la source)

Testing for Facioscapulohumeral Muscular Dystrophy using Optical Genome Mapping and Exome Sequencing

Anja Kovanda, Borut Peterlin

Background: Facioscapulohumeral muscular dystrophy (FSHD) is the third most common hereditary muscular dystrophy and is inherited in an autosomal dominant manner in case of FSHD1 and as a digenic disorder in case of the rarer FSHD2 form. FSHD is caused in both …

si (code pays fourni par la source)

Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population

Anja Kovanda, Tadeja Lukežič, Aleš Maver, Hana Vokač Križaj et autres

Determining the genetic contribution of susceptibility to severe SARS-CoV-2 infection outcomes is important for public health measures and individualized treatment. Through intense research on this topic, several hundred genes have been implicated as possibly contributing to the severe infection phenotype(s); however, the …

si (code pays fourni par la source)

Streamlined two‐step fragment analysis PCR and exome sequencing of RFC1 for diagnostic testing of suspected CANVAS patients

Helena Jaklič, Ivana Babič Božović, Borut Peterlin, Anja Kovanda

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is caused by biallelic pathogenic expansions, or compound heterozygosity with other pathogenic variants in the RFC1 gene. CANVAS is estimated to be underdiagnosed, both because of the lack of formal diagnostic criteria and molecular …

si (code pays fourni par la source)