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Št. zadetkov: 8
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 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: 2024 Vir: Biotehniška fakulteta (UL BF)
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
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;
DSP-cardiomyopathy has recently been recognised as a specific type of cardiomyopathy. Using an in-house Mendelian disease registry, we aimed to identify probands with likely pathogenic or pathogenic DSP variants. We detected these variants in 4.8% and 77.8% of genotype-positive probands referred for ...
Leto: 2024 Vir: Biotehniška fakulteta (UL BF)
Novel ATP7A splice-site variant causing distal motor neuropathy and occipital horn syndrome: two siblings and literature review
Karin Writzl, Maruša Škrjanec Pušenjak, Matevž Jus, Aleš Maver, Nuška Pečarič-Meglič, Borut Peterlin, Lea Leonardis
Izvirni znanstveni članek
Oznake: ATP7A;splice-site variant;distal hereditary motor neuropathy;occipital horn syndrome;copper metabolism;neurogenetics;
Background: Pathogenic hemizygous variants in ATP7A most commonly cause Menkes disease or occipital horn syndrome (OHS), whereas ATP7A-related distal hereditary motor neuropathy (dHMN) is rarely reported. Here, we describe two adult brothers with an overlapping dHMN/OHS phenotype caused by a novel A ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
Št. zadetkov: 8
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