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Št. zadetkov: 14
Clinical outcome of hypertrophic cardiomyopathy in probands with the founder variant c.913_914del in MYBPC3
Nina Vodnjov, Aleš Maver, Nataša Teran, Borut Peterlin, Janez Toplišek, Karin Writzl, Karin Writzl
Izvirni znanstveni članek
Oznake: cardiogenetics;cardiology;MYBPC3;hypertrophic cardiomyopathy;
Hypertrophic cardiomyopathy is often caused by pathogenic MYBPC3 variants. The study of Italian patients with HCM and MYBPC3(NM_000256.3):c.913_914del showed a higher disease penetrance in males and a higher frequency of arrhythmias compared to patients with other likely pathogenic and pathogenic (L ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Predimplantacijska genetska diagnostika
Karin Writzl
Pregledni znanstveni članek
Oznake: predimplantacijska genetska diagnostika;PGD;predimplantacijsko genetsko presejanje;PGS;kromosomske mutacije;monogenske bolezni;
Background: Preimplantation genetic diagnosis (PGD) is used to analyze embryos before their transfer into uterus. It is suitable for a group of patients who are at a substantial risk of conceiving a pregnancy affected by aknown genetic defect. PGD requires medically assisted reproduction, embryo bio ...
Leto: 2013 Vir: dLib.si Digitalna knjižnica Slovenije
Ugotavljanje in analiza genetskih vzrokov kardiomiopatij s pristopom sekvenciranja naslednje generacije
Nina Vodnjov, Karin Writzl
Doktorska disertacija
Oznake: dedne kardiomiopatije;genetska analiza;patogena različica;sekvenciranje naslednje generacije;molekularna patologija;genomika;različica z ustanoviteljevim učinkom;disertacije;
Razvoj novih tehnologij na področju molekularne genetike je omogočil boljše razumevanje dednih vzrokov kardiomiopatij. V študiji smo z metodo sekvenciranja naslednje generacije raziskovali molekularno patologijo pri bolnikih s kardiomiopatijami, obravnavanih na Kliničnem inštitutu za genomsko medici ...
Leto: 2025 Vir: Biotehniška fakulteta (UL BF)
Prekinitve nosečnosti zaradi razvojnih nepravilnosti plodov - analiza 4-letnega obdobja
Miha Lučovnik, Jasna Šinkovec, Karin Writzl, Nataša Tul
Objavljeni strokovni prispevek na konferenci
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Leto: 2009 Vir: dLib.si Digitalna knjižnica Slovenije
Predimplantacijska genetska diagnostika - 4-letne izkušnje na Ginekološki kliniki Univerzitetnega kliničnega centra Ljubljana
Karin Writzl, Alenka Veble, Jerneja Kmecl, Borut Peterlin
Objavljeni strokovni prispevek na konferenci
Oznake: medicinska genetika;ginekologija;genetska diagnostika;
Leto: 2009 Vir: dLib.si Digitalna knjižnica Slovenije
Spectrum of genetic variants and yield of genetic testing in Slovenian probands with suspected cardiomyopathies surviving sudden cardiac arrest
Nina Vodnjov, Aleš Maver, Borut Peterlin, Karin Writzl
Izvirni znanstveni članek
Oznake: sudden cardiac arrest;genetic testing;molecular pathology;(likely) pathogenic variants;hereditary cardiomyopathy;
Abstract Background Cardiomyopathies (CMs) present phenotypically on a spectrum and in a proportion of patients the initial presentation is sudden cardiac arrest (SCA). Studies performing genetic screening of SCA survivors have identifed (likely) pathogenic (LP/P) variants in 2–50% of probands, with ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
TTN:c.12478del in proximal I-band of titin represents a common molecular cause of dilated cardiomyopathy in Slovenian patients
Nina Vodnjov, Andraž Cerar, Aleš Maver, Borut Peterlin, Karin Writzl
Izvirni znanstveni članek
Oznake: Titin;TTNtv;I-band;TTN:c.12478del;dilated cardiomyopathy;DCM;
Background Titin truncating variants (TTNtv-s) are the most common genetic cause of dilated cardiomyopathy (DCM). Only rare TTNtv-s in the constitutively expressed exons of the A-band of the protein titin are associated with DCM according to the guidelines, however, studies in large cohorts of patie ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Non-dilated left ventricular cardiomyopathy with arrhythmias is commonly caused by the nonsense variant DSP:c.3793G>T in Slovenian patients
Nina Vodnjov, Anja Zupan, Aleš Maver, Ajda Dolinšek, Borut Peterlin, Karin Writzl
Izvirni znanstveni članek
Oznake: sarrhythmogenic non-dilated left ventricular cardiomyopathy;cardiogenetic;cardiology;DSP;DSP:c.3793G>T;founder;
Non-dilated left ventricular cardiomyopathy with arrhythmias is commonly caused by the nonsense variant DSP:c.3793G>T in Slovenian patients
Leto: 2024 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Variant-specifc pathophysiological mechanisms of AFF3 diferently infuence transcriptome profles
Sissy Bassani, Jacqueline Chrast, Giovanna Ambrosini, Norine Voisin, Frédéric Schütz, Karin Writzl, Aleš Maver
Izvirni znanstveni članek
Oznake: mesomelic dysplasia;horseshoe kidney;transcriptome;zebrafsh model;
Leto: 2024 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Splicing and frameshift variants in QSER1 may be involved in developmental phenotypes
Megan C. Fischer, Linda M. Reis, Jerica Lenberg, Karin Writzl, Barbara Golob, Borut Peterlin
Izvirni znanstveni članek
Oznake: QSER1;PRR12;loss of function;neurodevelopmental disorder;Axenfeld-Rieger anomaly;zebrafish;
Human development is a complex process that requires precise control of gene expression through regulatory proteins. Recently, heterozygous variants in PRR12, encoding a proline-rich regulatory protein, were found to cause a variable phenotype involving developmental delay/cognitive impairment, neur ...
Leto: 2026 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Št. zadetkov: 14
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