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Št. zadetkov: 8
Genetski vzroki prirojenih srčnih napak
Ana Marija Peterlin, Danijel Petrovič
Doktorska disertacija
Oznake: prirojene srčne napake;mikrodelecije;mikroduplikacije;točkovne mutacije;sekvenciranje naslednje generacije;eksomsko sekvenciranje;molekularna kariotipizacija;kardiogeneza;GWAS;
Prirojene srčne napake (PSN) predstavljajo najpogostejšo prirojeno razvojno nepravilnost. Prisotne so pri okoli 1 % otrok in so pomemben vzrok neonatalne umrljivosti, obolevnosti in dolgoročne invalidnosti ter zato predstavljajo pomemben javnozdravstveni izziv, obenem pa so v kar 50 do 70 % etiološk ...
Leto: 2025 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
Podpisi izražanja genov pri pri predrojstni diagnostiki anevploidij
Marija Volk, Borut Peterlin
Doktorska disertacija
Oznake: kromosomopatije;anevploidija;transkriptom;biološki označevalci;diagnostični markerji;gensko izražanje;amniociti;horijeve resice;kariotip;
Kromosomske bolezni predstavljajo pomemben zdravstveni problem, saj so v predrojstnem obdobju pogosto povezane z razvojnimi nepravilnostmi ali s spontano izgubo nosečnosti. Številčne kromosomske nepravilnosti avtosomov niso združljive z življenjem, razen trisomije kromosoma 21, 18 in 13 (T21, T18, T ...
Leto: 2019 Vir: Medicinska fakulteta (UL MF)
ǂA ǂnovel bisphenol A alternative, DD-70, may negatively affect haemostasis through cyclooxygenase 1 inhibition
Marcel Hrubša, Alina Soloviova, Catherine Gunaseelan, Patrícia Harčárová, Zuzana Lomozová, Eduard Jirkovský, Alejandro Carazo, Marija Sollner Dolenc, Lucija Peterlin-Mašič, Přemysl Mladěnka
Izvirni znanstveni članek
Oznake: bisphenol;platelet aggregation;thermal paper;toxicity;coagulation;erythrocyte;
Bisphenols, frequently used in the plastics industry, have been recognized as environmental pollutants. Bans on bisphenol A use led to the replacement by alternatives. There are, however, almost no data on their biological effects in humans. This study has focused on the potential negative impact of ...
Leto: 2025 Vir: Fakulteta za farmacijo (UL FFA)
ǂThe ǂfirst subacute study with oral administration of bisphenol AP in male rats
Přemysl Mladěnka, Jaka Fadraersada, Patrícia Dias, Václav Tvrdý, Jana Pourová, Eduard Jirkovský, Alejandro Carazo, Marija Sollner Dolenc, Jurij Trontelj, Lucija Peterlin-Mašič
Izvirni znanstveni članek
Oznake: bisphenol;endocrine disruptor;pollutant;hypertension;cardiovascular;
Bisphenols are frequently used in the plastic industry. However, there is a need for addressing their safety in in vivo studies based on the observed negative impact of bisphenol A. Bisphenol AP (BPAP) is frequently found in the environment, human food, and biological fluids, but its cardiovascular ...
Leto: 2025 Vir: Fakulteta za farmacijo (UL FFA)
Atypical Leber Hereditary Optic Neuropathy (LHON) associated with a novel MT-CYB:m.15309T>C(Ile188Thr) variant
Sanja Petrović Pajić, Ana Fakin, Martina Jarc-Vidmar, Maja Šuštar, Lucija Malinar, Kasja Pavlovic, Nina Krako Jakovljevic, Marija Volk, Aleš Maver, Gregor Jezernik, Damjan Glavač, Borut Peterlin, Marko Hawlina
Izvirni znanstveni članek
Oznake: LHON;gene;electrophysiology;retinal segmentation;VA improvement;mitochondrial disfunction;proteomic analysis;
Background: The study presents a detailed examination and follow-up of a Slovenian patient with an Leber Hereditary Optic Neuropathy (LHON)-like phenotype and bilateral optic neuropathy in whom genetic analysis identified a novel variant MT-CYB:m.15309T>C (Ile188Thr). Methods: We provide detailed an ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
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)
Marine strategy framework directive
Konstantinos Tsiamis, Ivan Cvitković, Marija Despalatović, Branko Dragičević, Jakov Dulčić, Ana Fortič, Janja Francé, Lovrenc Lipej, Borut Mavrič, Patricija Mozetič, Živana Ninčević Gladan, Martina Orlando-Bonaca, Monika Peterlin, Valentina Pitacco, Domen Trkov, Olja Vidjak, Ante Žuljević
Končno poročilo o rezultatih raziskav
Oznake: hidrobiologija;morski ekosistemi;neavtohtone vrste;Evropska unija;
Marine Non-Indigenous Species (NIS) are animals and plants introduced accidently or deliberately into the European seas, originating from other seas of the globe. About 800 marine non-indigenous species (NIS) currently occur in the European Union national marine waters, several of which have negativ ...
Leto: 2021 Vir: Nacionalni inštitut za biologijo (NIB)
Št. zadetkov: 8
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