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Št. zadetkov: 5
Analiza klinično pomembnih strukturnih genomskih variabilnosti pri slovenskih otrocih z nepojasnjenim razvojnim ali duševnim zaostankom, s prirojenimi nepravilnostmi in z motnjami avtističnega spektra
Danijela Krgović, Nadja Kokalj-Vokač
Doktorska disertacija
Oznake: motnje avtističnega spektra;slovenska populacija;molekularna kariotipizacija;strukturne genomske variabilnosti;duševna manjrazvitost/razvojni zaostanek;Psihiatrija;Disertacije;Duševna manjrazvitost;Motnje avtističnega spektra;Prirojene motnje;Molekularna genetika;Dedne bolezni;Genomska variabilnost;Molekularna kariotipizacija;
Kljub intenzivni genetski obravnavi otrok z razvojno–nevrološkimi motnjami pri skoraj polovici obravnavanih ostaja vzrok motnje še vedno nepojasnjen. V zadnjih dveh desetletjih je uvedba tehnologije molekularne kariotipizacije bistveno izboljšala razumevanje genetskega vpliva na nastanek razvojno–ne ...
Leto: 2015 Vir: Medicinska fakulteta (UM MF)
Specific behavioural phenotype and secondary cognitive decline as a result of an 8.6 Mb deletion of 2q32.2q33.1
Hojka Gregorič Kumperščak, Danijela Krgović, Nadja Kokalj-Vokač
Izvirni znanstveni članek
Oznake: vedenjski problemi;mikrodelecija, sindrom;sekundarni upad kognitivnih sposobnosti;zaostanek v razvoju;SATB2 gen;
Chromosomal abnormalities involving 2q32q33 deletions are very rare and present with a specific phenotype. This case report describes a 37-year-old female patient with 2q32q33 microdeletion syndrome presenting with the characteristic features, but with the addition of secondary cognitive decline. Mo ...
Leto: 2016 Vir: Univerza v Mariboru (UM)
ǂA ǂcoalescence of two syndromes in a girl with terminal deletion and inverted duplication of chromosome 5
Danijela Krgović, Ana Blatnik, Ante Burmas, Andreja Zagorac, Nadja Kokalj-Vokač
Izvirni znanstveni članek
Oznake: deletion with inverted duplication of 5p;trisomy 5;Cri-du-chat syndrome;cat-like cry;ear agenesis;
Background: Rearrangements involving chromosome 5p often result in two syndromes, Cri-du-chat (CdC) and Trisomy 5p, caused by a deletion and duplication, respectively. The 5p15.2 has been defined as a critical region for CdC syndrome; however, genotype-phenotype studies allowed isolation of particul ...
Leto: 2014 Vir: Univerza v Mariboru (UM)
Submicroscopic interstitial deletion of chromosome 11q22.3 in a girl with mild mental retardation and facial dysmorphism: Case report
Danijela Krgović, Nataša Marčun-Varda, Andreja Zagorac, Nadja Kokalj-Vokač
Izvirni znanstveni članek
Oznake: 11q22.3 deletion;mild mental retardation;facial dysmorphism;
Background: Except for terminal deletions that lead to Jacobsen syndrome, interstitial deletions involving the long arm of chromosome 11 are not frequently reported. A clinically distinct phenotype is usually observed in these cases, and no clear genotype-phenotype correlation is proposed. Results: ...
Leto: 2011 Vir: Univerza v Mariboru (UM)
Identification of potentially pathogenic variants for autism spectrum disorders using gene-burden analysis
Nika Rihar, Danijela Krgović, Nadja Kokalj-Vokač, Špela Stangler Herodež, Minja Zorc, Peter Dovč
Izvirni znanstveni članek
Oznake: medicina;genetika;genetski testi;avtizem;
Gene-burden analyses have lately become a very successful way for the identification of genes carrying risk variants underlying the analysed disease. This approach is also suitable for complex disorders like autism spectrum disorder (ASD). The gene-burden analysis using Testing Rare Variants with Pu ...
Leto: 2023 Vir: Biotehniška fakulteta (UL BF)
Št. zadetkov: 5
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