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Št. zadetkov: 5
Streamlined two-step fragment analysis PCR and exome sequencing of RFC1 for diagnostic testing of suspectedCANVAS patients
Helena Jaklič, Ivana Babić Božović, Borut Peterlin, Anja Kovanda, Anja Kovanda
Kratki znanstveni prispevek
Oznake: CANVAS;cerebellar ataxia neuronopathy vestibular areflexia syndrome;clinical genetics;
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is causedby biallelic pathogenic expansions, or compound heterozygosity with other patho-genic variants in the RFC1 gene. CANVAS is estimated to be underdiagnosed, bothbecause of the lack of formal diagnostic criteria and mole ...
Leto: 2024 Vir: Medicinska fakulteta (UL MF)
Unraveling the complexity of skeletal dysplasias in the national health system
Dorra Najjar, Aleš Maver, Ana Marija Peterlin, Helena Jaklič, Borut Peterlin
Izvirni znanstveni članek
Oznake: CNV;copy number variants;NGS;next-generation sequencing;diagnostic yield;molecular pathology;prenatal diagnosis;rare genetic diseases;skeletal dysplasia;
Introduction: Skeletal dysplasia (SD) is a large and heterogeneous group of rare genetic disorders that affects bone and cartilage growth. These disorders are diagnosed based on radiographic, clinical, and molecular criteria. However, the diagnostics is challenging due to clinical and genetic hetero ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
ACE gene and male infertility
Tanja Kunej, Rebeka Podgrajšek, Helena Jaklič, Alenka Hodžić, Martin Štimpfel, Olivera Miljanović, Antun Gršković, Borut Peterlin, Momčilo Ristanović, Ivana Novaković, Dijana Plašeska Karanfilska, Predrag Noveski, Saša Ostojić, Alena Buretić-Tomljanović
Izvirni znanstveni članek
Oznake: genetika;geni;gen ACE;moška neplodnost;omike;angiotensin I converting enzyme (ACE);male infertility;azoospermia;oligozoospermia;multi-omics;
Components of the renin-angiotensin system (RAS) are expressed in both female and male reproductive tracts, with angiotensin I converting enzyme (ACE) being an important component for male reproductive function, as shown in animal models. The most studied ACE polymorphism is the Alu insertion-deleti ...
Leto: 2025 Vir: Repozitorij Univerze v Ljubljani (RUL)
Clinical and histopathological features of gelsolin amyloidosis associated with a novel GSN variant p.Glu580Lys
Maja Potrč, Marija Volk, Matteo de Rosa, Jože Pižem, Nataša Teran, Helena Jaklič, Aleš Maver, Brigita Drnovšek-Olup, Michela Bollati, Katarina Vogelnik, Alojzija Hočevar, Ana Gornik, Vladimir Pfeifer, Borut Peterlin, Marko Hawlina, Ana Fakin
Izvirni znanstveni članek
Oznake: gelsolin mayloidosis;Meretoja syndrome;GSN;cutis laxa;heart arrhythmia;lattice corneal dystrophy;optic neuropathy;optical coherence tomography;
Gelsolin amyloidosis typically presents with corneal lattice dystrophy and is most frequently associated with pathogenic GSN variant p.Asp214Asn. Here we report clinical and histopathological features of gelsolin amyloidosis associated with a novel GSN variant p.Glu580Lys. We studied DNA samples of ...
Leto: 2021 Vir: Medicinska fakulteta (UL MF)
Gospodarski razvoj in konkurenčnost Bele krajine
Helena Konda, Marko Jaklič
Diplomsko delo
Oznake: Slovenija;ekonomska politika;regionalna politika;regije;regionalni razvoj;ekonomski razvoj;ekonomska rast;konkurenčnost;analiza;
Gospodarski razvoj in konkurenčnost Bele krajine
Leto: 2003 Vir: Ekonomska fakulteta (UL EF)
Št. zadetkov: 5
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