Researchers
Čuturilo, Goran
Results 1-20 of 42
| Issue Date | Title | Author(s) | Type | Мp-cat. |
|---|---|---|---|---|
| 2025 | The coexistence of APC and FH germline variants: a case report of cooccurrence of two hereditary cancer predisposition syndromes in a single patient | Bosankić, Brankica; Čuturilo, Goran   ; Mijović, Marija; Ruml-Stojanović, Jelena ; Miletić, Aleksandra; Dedović, Maja; Branković, Marija | Conference Paper | Mp. category will be shown later |
| 2025 | Diagnostic challenges in skeletal dysplasia: a clinical overview based on a 10-year retrospective study of single genetic department | Mijović, Marija; Čuturilo, Goran ; Ruml-Stojanović, Jelena ; Mileticć Aleksandra; Bosankić, Brankica; Dedović, Maja; Branković, Marija | Conference Paper | Mp. category will be shown later |
| 2025 | Diabetes triggered by renal transplantation in patients with HNF1B variants - Single center experience | Cvetković, Mirjana; Petrović, Ana; Pavlović, Sonja ; Paripović, Dušan ; Miloševski-Lomić, Gordana; Gojković, Ivana; Matijas, Kristina; Zdravković, Vera ; Radović, Tijana; Pavićević, Polina ;
Čuturilo, Goran
; Bosankić, Brankica; Spasojević, Brankica ; | Conference Paper | Mp. category will be shown later |
| 2022 | Ring chromosome 20: a further contribution to the delineation of epileptic phenotype | Borković, Milan P.; Čuturilo, Goran ; Cerovac, Nataša M. | Article | 23M23 |
| 2021 | A Genetics-First Approach to Dissecting the Heterogeneity of Autism: Phenotypic Comparison of Autism Risk Copy Number Variants | Chawner, Samuel JRA; ...; Čuturilo, Goran ; ...; Mihaljević, Marina M. ; ...; Pejović-Milovančević, Milica M. ; ...; (broj koautora 31) | Article | 21a+M21a+ |
| 2021 | Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit | Miletić, Aleksandra; Ruml-Stojanović, Jelena ; Parezanović, Vojislav ; Rsovac, Snežana; Drakulić, Danijela ; Soldatović, Ivan ; Mijović, Marija; Bosankić, Brankica; Petrović, Hristina; Borlja, Nikola;
Milivojević, Milena
; Marjanović, Ana ; Branković, Marija ; Čuturilo, Goran ; | Article | 21aM21a |
| 2020 | Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability | Ruml-Stojanović, Jelena ; Miletić, Aleksandra; Peterlin, Borut; Maver, Ales; Mijović, Marija; Borlja, Nikola; Dimitrijević, Brankica; Soldatović, Ivan A. ; Čuturilo, Goran | Article | 22M22 |
| 2020 | Recurrent congenital microcephaly: a case report | Komnenić-Radovanović, Milica ; Novaković, Ivana V. ; Čuturilo, Goran ; Ruml-Stojanović, Jelena ; Petrović, Bojana ; Kontić-Vučinić, Olivera | Conference Paper | Mp. category will be shown later |
| 2019 | Clinical next generation sequencing reveals an H3F3A gene as a new potential gene candidate for microcephaly associated with severe developmental delay, intellectual disability and growth retardation | Maver, Ales; Čuturilo, Goran ; Ruml-Stojanović, Jelena ; Peterlin, Borut | Article | 23M23 |
| 2019 | Otopalatodigital Syndrome Type I: Novel Characteristics and Prenatal Manifestations in Two Siblings | Joksić, Ivana ; Čuturilo, Goran ; Jurišić, Aleksandar I. ; Đuričić, Slaviša; Peterlin, Borut; Mijović, M.; Karadžov-Orlić, Nataša ; Egić, Amira ; Milovanović, Zagorka | Article | 23M23 |
| 2019 | GLUT1 deficiency syndrome : a case report with a novel SLC2A1mutation | Ivančević, Nikola ; Cerovac, Nataša ; Nikolić, Blažo ; Čuturilo, Goran ; Marjanović, Ana ; Branković, Marija ; Novaković, Ivana | Article | 23M23 |
| 2019 | Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome | Capri, Yline; Flex, Elisabetta; Krumbach, Oliver H.F.; Carpentieri, Giovanna; Cecchetti, Serena; Lißewski, Christina; Rezaei, Adariani Soheila; Schanze, Denny; Brinkmann, Julia; Piard, Juliette;
Pantaleoni, Francesca; Lepri, Francesca R.; Goh, Elaine Suk-Ying; Chong, Karen; Stieglitz, Elliot; Meyer, Julia; Kuechler, Alma; Bramswig, Nuria C.; Sacharow, Stephanie; Strullu, Marion; Vial, Yoann; Vignal, Cédric; Kensah, George; Čuturilo, Goran
; Kazemein, Jasemi Neda S.; Dvorsky, Radovan; Monaghan, Kristin G.; Vincent, Lisa M.; Cavé, Hélène; Verloes, Alain; Ahmadian, Mohammad R.; Tartaglia, Marco; Zenker, Martin; | Article | 21aM21a |
| 2019 | Rare missense TUBGCP5 gene variant in a patient with primary microcephaly | Maver, Aleš; Čuturilo, Goran ; Kovanda, Anja; Miletić, Aleksandra; Peterlin, Borut | Article | 22M22 |
| 2019 | The patient with fragile site on chromosome 16 and four misses abortions: a case report | Komnenić-Radovanović, Milica ; Petrović, Bojana ; Denčić-Fekete, Marija ; Jovanović, Jelica; Đorđević, Vesna; Čuturilo, Goran ; Dimitrijević, B.; Miletić, A.; Ruml-Stojanović, Jelena ; Radovanović, M.;
Kontić-Vučinić, Olivera R.
; | Conference Paper | Mp. category will be shown later |
| 2018 | Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases | Bergant, Gaber; Maver, Ales; Lovrecic, Luca; Čuturilo, Goran ; Hodzic, Alenka; Peterlin, Borut | Article | 21a+M21a+ |
| 2018 | Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice | Tumienė, B.; Maver, A.; Writzl, K.; Hodžić, A.; Čuturilo, Goran ; Kuzmanić-Šamija, R.; Čulić, V.; Peterlin, B. | Article | 21M21 |
| 2017 | Articulation skills, oral praxis and cognitive maturity of children with 22q11.2 deletion syndrome and children with phenotype resembling 22q11.2 deletion sindrome but without microdeletions | Rakonjac, Marijana S. ; Čuturilo, Goran M. ; Stevanović, Milena J. ; Drakulić, Danijela D. | Conference Paper | Mp. category will be shown later |
| 2017 | The Impact of 22q11.2 Microdeletion on Cardiac Surgery Postoperative Outcome | Čuturilo, Goran ; Drakulić, Danijela ; Jovanović, Ida ; Ilić, Slobodan ; Kalanj, Jasna; Vulićević, Irena; Raus, Misela; Škorić, Dejan ; Mijović, Marija; Međo, Biljana ;
Rsovac, Snežana; Stevanović, Milena
; | Article | 22M22 |
| 2017 | Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome | Pannone, Luca; Bocchinfuso, Gianfranco; Flex, Elisabetta; Rossi, Cesare; Baldassarre, Giuseppina; Lissewski, Christina; Pantaleoni, Francesca; Consoli, Federica; Lepri, Francesca; Magliozzi, Monia;
Anselmi, Massimiliano; Delle, Vigne Silvia; Sorge, Giovanni; Karaer, Kadri; Čuturilo, Goran
; Sartorio, Alessandro; Tinschert, Sigrid; Accadia, Maria; Digilio, Maria C.; Zampino, Giuseppe; De Luca, Alessandro; Cavé, Hélène; Zenker, Martin; Gelb, Bruce D.; Dallapiccola, Bruno; Stella, Lorenzo; Ferrero, Giovanni B.; Martinelli, Simone; Tartaglia, Marco; | Article | 21aM21a |
| 2017 | Genetic study of Achondroplasia in Serbian population | Radunović, Sara; Dobričić, Valerija ; Marjanović, Ana ; Branković, Marija ; Joksić, Ivana ; Kontić, Olivera ; Čuturilo, Goran ; Novaković, Ivana ; Kostić, Vladimir | Conference Paper | Mp. category will be shown later |