Iskalni niz:
išči po
išči po
išči po
išči po
Vrsta gradiva:
Jezik:
Št. zadetkov: 5
Cascade screening of a Pakistani consanguineous familial hypercholesterolemia cohort
Quratul Ain, Jaka Šikonja, Fouzia Sadiq, Saeed Shafi, Jan Kafol, Tevž Gorjanc, Urša Šuštar, Jernej Kovač, Mohammad Iqbal Khan, Muhammad Ajmal, Urh Grošelj, Urh Grošelj
Izvirni znanstveni članek
Oznake: cardiovascular disease;cascade screening;consanguineous;familial hypercholesterolemia;homozygous;
Background and aims: Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels from birth, significantly increasing the risk of premature cardiac events and mortality. In Pakistan, despite the potential burden of FH, compreh ...
Leto: 2025 Vir: Repozitorij Univerze v Ljubljani (RUL)
LDLR and APOB pathogenic variants predict discordant TSH effect on LDL-C
Jan Kafol, Jaka Šikonja, Matej Mlinarič, Barbara Čugalj Kern, Mihaela Pricop-Jeckstadt, Ana Drole Torkar, Tevž Gorjanc, Andraž Petek, Andreja Lakner, Jernej Kovač, Tadej Battelino, Urh Grošelj, Urh Grošelj
Izvirni znanstveni članek
Oznake: TSH;low-density lipoprotein cholesterol;familial hypercholesterolemia;LDLR;APOB;subclinical hypothyroidism;
Background and aims Thyroid hormones regulate lipoprotein metabolism—primarily by up-regulating the LDL receptor. Whether TSH relates to LDL-C in hypercholesterolemic children, and whether this depends on familial hypercholesterolemia (FH) status or the underlying defective gene, is uncertain. We ev ...
Leto: 2026 Vir: Medicinska fakulteta (UL MF)
ǂThe ǂrole of the MTUS1 gene in the development of left ventricular noncompaction cardiomyopathy
Tevž Gorjanc, Jaka Šikonja, Ana Drole Torkar, Mojca Žerjav-Tanšek, Jernej Kovač, Sara Bertok, Maruša Debeljak, Zvezdana Dolenc-Stražar, Marija Meznarič, Jernej Mlakar, Mirko Topalović, Gorazd Mlakar, Tadej Battelino, Urh Grošelj
Kratki znanstveni prispevek
Oznake: left ventricular noncompaction cardiomyopathy;microtubule-associated scaffold protein 1 (MTUS1);whole-genome sequencing;
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Parallel screening strategies reveal distinct phenotypic and genotypic profiles of familial hypercholesterolemia in children and adults
Jaka Šikonja, Urška Intihar, Borut Jug, Neža Salobir, Katarina Trebušak Podkrajšek, Matija Cevc, Nina Đorđević, Jan Kafol, Tevž Gorjanc, Matej Mlinarič, Barbara Čugalj Kern, Jernej Kovač, Tadej Battelino, Zlatko Fras, Urh Grošelj
Izvirni znanstveni članek
Oznake: familial hypercholesterolemia;adults;children;genetics;universal screening;opportunistic screening;
Background: Multiple familial hypercholesterolemia (FH) screening strategies are recommended, but how they work together within a population remains poorly understood. Here, we aimed to compare the characteristics of children diagnosed through a universal screening program with those of adults ident ...
Leto: 2026 Vir: Medicinska fakulteta (UL MF)
Universal screening for familial hypercholesterolemia in preschool children and their families in Slovenia (FH-FAMILIES)
Mia Becker, Bernarda Vogrin, Jan Kafol, Barbara Čugalj Kern, Urh Grošelj, Jernej Završnik, Matej Mlinarič, Ana Drole Torkar, Jaka Šikonja, Jernej Kovač, Tadej Battelino, Zlatko Fras, Matija Cevc, Borut Jug, Barbara Krevel, Tevž Gorjanc, Klara Zabkar, Aljaz Jamnik, Maruša Debeljak, Ana Grom, Tamara Grgic, Miha Švarc, Maja Filipič, Mineja Leban, Marija Kjoseva Bakarova, Mateja Šnajder, Alenka Koren, Mojca Mir Toplak, Mojca Ivankovič Kacjan, Mario Kulaš, Benjamina Trtnik, Saša Korez, Nina Hebar, Bernarda Vogel, Vesna Amon Prodnik, Lidija Pretnar, Janja Schweiger Nemanič
Izvirni znanstveni članek
Oznake: hypercholesterolemia;universal screening;preschoolers;total cholesterol;genetic testing;
Familial hypercholesterolemia (FH) is the most common metabolic disease, with prevalence estimated between 1:250 and 1:300. The affected individuals have a significantly higher risk for developing atherosclerosis and cardiovascular disease (CVD) compared to non-affected individuals. Early CVD can be ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Št. zadetkov: 5
Ključne besede:
Leto izdaje:
Avtorji:
Repozitorij:
Tipologija:
Jezik: