Browsing eNauka

Browsing by Author Cuturilo, Goran

Showing results 1 to 20 of 51  next >
Issue DateTitleAuthor(s)TypeМp-cat.
202322q11.2 microdeletion is the most common genomic abnormality in Serbian newborns with critical congenital heart disease and could be rapidly detected by Multiplex ligation probe amplification analysisMiletić, Aleksandra; Cuturilo, Goran; Ruml Stojanović, Jelena; Drakulić, Danijela  ; Mijović, Marija; Bosankić, Brankica; Petrović, Hristina; Stevanović, Milena  Conference Paper
Mp. category will be shown later
202522Q11.2DS IPSCS AS MODEL SYSTEM FOR INVESTIGATION OF MOLECULAR MECHANISM AND NOVEL THERAPEUTIC TARGETS IN NDDSPerić, Mina  ; Simeunović, Ivana  ; Ninković Stanisavljević, Danijela; Kovačević Grujičić, Nataša  ; Kostić, Jovana  ; Cuturilo, Goran; Petter, O.; Harwood, A.J.; Stevanović, Milena  ; Drakulić, Danijela  Conference Paper
Mp. category will be shown later
2013A case of a patient with multiple sSMC without phenotypic effectVesic, Marija; Jelisavcic, Marko; Niksic, Snezana B; Cuturilo, Goran; Ivanovic-Deretic, Vesna; Liehr, ThomasConference Paper
Mp. category will be shown later
2018A novel CTNNB1 mutation in a patient with teratoma and multiple malformations - expansion of the phenotypic spectrum and possible new gene for Currarino phenotypeMijovic, Marija; Miletic, Aleksandra; Ruml-Stojanovic, Jelena; Peterlin, Borut; Maver, Ales; Borlja, Nikola; Dimitrijevic, Brankica; Lukic, M; Cuturilo, GoranConference Paper
Mp. category will be shown later
2023A novel splice-site FHOD3</i> founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans-A cohort studyVodnjov, Nina; Toplisek, Janez; Maver, Ales; Cuturilo, Goran; Jaklic, Helena; Teran, Natasa; Visnjar, Tanja; Skrjanec, Pusenjak Marusa; Hodzic, Alenka; Miljanovic, Olivera;
Peterlin, Borut; Writzl, Karin; Mahdieh, Nejat;
Article
21M21
2024A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans - a cohort studyVodnjov, Nina; Toplisek, Janez; Maver, Ales; Cuturilo, Goran; Jaklic, Helena; Teran, Natasa; Visnjar, Tanja; Pusenjak, Marusa Skrjanec; Hodzic, Alenka; Miljanovic, Olivera;
Peterlin, Borut; Writzl, Karin;
Conference Paper
Mp. category will be shown later
2008A rare association of interrupted aortic arch type C and microdeletion 22q11.2Cuturilo, Goran; Drakulić, Danijela  ; Stevanović, Milena  ; Jovanović, Ida; Đukić, Milan  ; Miletić-Grković, Slobodanka  ; Atanasković-Marković, Marina  Article
22M22
2024An Overview of 22q11.2 Diagnostic and Research Facilities in the Countries of The Western Balkan RegionCuturilo, Goran; Drakulić, Danijela  ; Kovačević Grujičić, Nataša  ; Perić, Mina  ; Stevanović, Milena  Conference Paper
Mp. category will be shown later
2023Analysis of cohort of patients with 22q11.2 deletion syndrome - a single-center experience from SerbiaSimeunović, Ivana  ; Drakulić, Danijela  ; Cuturilo, Goran; Kovačević-Grujičić, Nataša  ; Kostić, Jovana  ; Stevanović, Milena  Conference Paper
Mp. category will be shown later
2008Aplastic anemia and Turner syndromeCuturilo, Goran; Škorić, Dejan  ; Miletić-Grković, Slobodanka; Bojić, Vladislav; Rodić, Predrag  ; Stefanović, IgorOther
Mp. category will be shown later
2023Application of principal component analysis (PCA) and analytical hierarchy process (AHP) in analysis of articulatory characteristics of phonemes of children with 22q11.2 Deletion SyndromeDrakulić, Danijela  ; Rakonjac, Marijana; Cuturilo, Goran; Kovačević-Grujičić, Nataša  ; Kušić-Tišma, Jelena  ; Morić, Ivana  ; Zukić, Branka  ; Stevanović, Milena  Conference Paper
Mp. category will be shown later
2019Autistic traits and cognitive dysfunctions in children with patogenic copy number variants: a pilot study from SerbiaMihaljević, Marina; Pejović-Milovancević, Milica  ; Janeski, Hristina; Mandić-Maravić, Vanja; Grujicić, Roberto; Drakulić, Danijela  ; Stevanović, Milena  ; Cuturilo, GoranConference Paper
Mp. category will be shown later
2025Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disabilityKroll-Hermi, Ariane; ...; Cuturilo, Goran; ...; (broj, koautora 89)Article
21a+M21a+
2024CHARACTERIZATION OF INDUCED PLURIPOTENT STEM CELLS FROM PATIENTS WITH 22Q11.2 DUPLICATION SYNDROMEKostić, Jovana  ; Cuturilo, Goran; Drakulić, Danijela  ; Petter, Olena; Perić, Mina  ; Simeunović, Ivana  ; Stanisavljević Ninković, Danijela  ; Harwood J., Adrian; Stevanović, Milena  ; Kovačević-Grujicić, Nataša  Conference Paper
Mp. category will be shown later
2024Clinical utility of diagnostic NGS for detection CNV variants in genes associated with skeletal dysplasiaMijovic, Marija; Cuturilo, Goran; Ruml-Stojanovic, Jelena; Miletic, Aleksandra; Bosankic, Brankica; Petrovic, HristinaConference Paper
Mp. category will be shown later
2023Constitutional mismatch repair deficiency syndrome (CMMRD): the significance of customized surveillance protocol for Lynch syndrome-related tumors in relatives at risk-a case reportBosankic, Brankica; Cuturilo, Goran; Petrovic, Hristina; Mijovic, Marija; Ruml-Stojanovic, Jelena; Miletic, AleksandraConference Paper
Mp. category will be shown later
2023Detection rate of 22q11.2 microdeletion using strict diagnostic criteriaDrakulić, Danijela  ; Cuturilo, Goran; Jovanović, Ida; Krstić, Aleksandar; Milivojević, Milena  ; Stevanović, Milena  Conference Paper
Mp. category will be shown later
2002Difference between asthma, rhinitis and eczema prevalence rate in children from rural and inner city areasRaskovic, T; Zivkovic, Zorica M; Cuturilo, Goran; Kalaba, ZlatkoConference Paper
Mp. category will be shown later
2025Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse developmentPeng, Xiaoxia; ...; Cuturilo, Goran; ...; (broj, koautora 49)Article
21a+M21a+
2024Dual molecular diagnosis in patients with skeletal dysplasia - data from tertiary genetic centerMijovic, Marija; Cuturilo, Goran; Ruml-Stojanovic, Jelena; Miletic, Aleksandra; Bosankic, Brankica; Petrovic, Hristina; Vasic, Bojana; Vukasinovic, NadjaConference Paper
Mp. category will be shown later