Search Results - "Čuturilo, Goran"

Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases by Bergant, Gaber, Maver, Ales, Lovrecic, Luca, Čuturilo, Goran, Hodzic, Alenka, Peterlin, Borut

“…Purpose We sought to determine the analytical sensitivity of several extended exome variation analysis approaches in terms of their contribution to diagnostic…”
Get full text

Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects by Loges, Niki T., Antony, Dinu, Maver, Ales, Deardorff, Matthew A., Güleç, Elif Yýlmaz, Gezdirici, Alper, Nöthe-Menchen, Tabea, Höben, Inga M., Jelten, Lena, Frank, Diana, Werner, Claudius, Tebbe, Johannes, Wu, Kaman, Goldmuntz, Elizabeth, Čuturilo, Goran, Krock, Bryan, Ritter, Alyssa, Hjeij, Rim, Bakey, Zeineb, Pennekamp, Petra, Dworniczak, Bernd, Brunner, Han, Peterlin, Borut, Tanidir, Cansaran, Olbrich, Heike, Omran, Heymut, Schmidts, Miriam

“…Dysfunction of motile monocilia, altering the leftward flow at the embryonic node essential for determination of left-right body asymmetry, is a major cause of…”
Get full text

A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans-A cohort study by Vodnjov, Nina, Toplišek, Janez, Maver, Aleš, Čuturilo, Goran, Jaklič, Helena, Teran, Nataša, Višnjar, Tanja, Škrjanec Pušenjak, Maruša, Hodžić, Alenka, Miljanović, Olivera, Peterlin, Borut, Writzl, Karin

“…Founder variants in sarcomere protein genes account for a significant proportion of disease-causing variants in patients with hypertrophic cardiomyopathy…”
Get full text

Rare missense TUBGCP5 gene variant in a patient with primary microcephaly by Maver, Aleš, Čuturilo, Goran, Kovanda, Anja, Miletić, Aleksandra, Peterlin, Borut

“…Primary microcephalies (MCPH) are characterized by microcephaly (HC -2 SD at birth) in the absence of visceral malformations. To date, less than 20 genes have…”
Get full text

Ring chromosome 20: A further contribution to the delineation of epileptic phenotype by Borkovic, Milan, Cuturilo, Goran, Cerovac, Natasa

“…Introduction. Ring chromosome 20 [r(20)] syndrome is a rare genetic abnormality where two arms of the 20th chromosome fuse forming a ring chromosome, resulting…”
Get full text

The clinical significance of A2ML1 variants in Noonan syndrome has to be reconsidered by Brinkmann, Julia, Lissewski, Christina, Pinna, Valentina, Vial, Yoann, Pantaleoni, Francesca, Lepri, Francesca, Daniele, Paola, Burnyte, Birute, Cuturilo, Goran, Fauth, Christine, Gezdirici, Alper, Kotzot, Dieter, Güleç, Elif Yılmaz, Iotova, Violeta, Schanze, Denny, Ramond, Francis, Havlovicová, Markéta, Utine, Gulen Eda, Simsek-Kiper, Pelin Ozlem, Stoyanova, Milena, Verloes, Alain, De Luca, Alessandro, Tartaglia, Marco, Cavé, Hélène, Zenker, Martin

“…The RASopathies are a group of clinically and genetically heterogeneous developmental disorders caused by dysregulation of the RAS/MAPK signalling pathway…”
Get full text

Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit by Miletic, Aleksandra, Stojanovic, Jelena Ruml, Parezanovic, Vojislav, Rsovac, Snezana, Drakulic, Danijela, Soldatovic, Ivan, Mijovic, Marija, Bosankic, Brankica, Petrovic, Hristina, Borlja, Nikola, Milivojevic, Milena, Marjanovic, Ana, Brankovic, Marija, Cuturilo, Goran

“…Rapid and efficient diagnostics is crucial for newborns with congenital heart defects (CHD) in intensive care unit (ICU) but is often challenging. Given that…”
Get full text

Speech Sounds Production, Narrative Skills, and Verbal Memory of Children with 22q11.2 Microdeletion by Rakonjac, Marijana, Cuturilo, Goran, Kovacevic-Grujicic, Natasa, Simeunovic, Ivana, Kostic, Jovana, Stevanovic, Milena, Drakulic, Danijela

“…22q11.2 deletion syndrome (22q11.2DS), the most frequent microdeletion syndrome in humans, is related to a high risk of developing neurodevelopmental…”
Get full text

The landscape of Mucopolysaccharidosis in Southern and Eastern European countries: a survey from 19 specialistic centers by Tylki-Szymańska, Anna, Almássy, Zsuzsanna, Christophidou-Anastasiadou, Violetta, Avdjieva-Tzavella, Daniela, Barisic, Ingeborg, Cerkauskiene, Rimante, Cuturilo, Goran, Djiordjevic, Maja, Gucev, Zoran, Hlavata, Anna, Kieć-Wilk, Beata, Magner, Martin, Pecin, Ivan, Plaiasu, Vasilica, Samardzic, Mira, Zafeiriou, Dimitrios, Zaganas, Ioannis, Lampe, Christina

“…Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by defects in genes coding for different lysosomal enzymes which degrade…”
Get full text

Mowat-Wilson syndrome: growth charts by Ivanovski, Ivan, Djuric, Olivera, Broccoli, Serena, Caraffi, Stefano Giuseppe, Accorsi, Patrizia, Adam, Margaret P, Avela, Kristina, Badura-Stronka, Magdalena, Bayat, Allan, Clayton-Smith, Jill, Cocco, Isabella, Cordelli, Duccio Maria, Cuturilo, Goran, Di Pisa, Veronica, Dupont Garcia, Juliette, Gastaldi, Roberto, Giordano, Lucio, Guala, Andrea, Hoei-Hansen, Christina, Inaba, Mie, Iodice, Alessandro, Nielsen, Jens Erik Klint, Kuburovic, Vladimir, Lazalde-Medina, Brissia, Malbora, Baris, Mizuno, Seiji, Moldovan, Oana, Maller, Rikke S, Muschke, Petra, Otelli, Valeria, Pantaleoni, Chiara, Piscopo, Carmelo, Poch-Olive, Maria Luisa, Prpic, Igor, Marín Reina, Purificación, Raviglione, Federico, Ricci, Emilia, Scarano, Emanuela, Simonte, Graziella, Smigiel, Robert, Tanteles, George, Tarani, Luigi, Trimouille, Aurelien, Valera, Elvis Terci, Schrier Vergano, Samantha, Writzl, Karin, Callewaert, Bert, Savasta, Salvatore, Street, Maria Elisabeth, Iughetti, Lorenzo, Bernasconi, Sergio, Giorgi Rossi, Paolo, Garavelli, Livia

“…Abstract Background Mowat–Wilson syndrome (MWS; OMIM #235730) is a genetic condition caused by heterozygous mutations or deletions of the ZEB2 gene. It is…”
Get full text

Intraoperative anaphylactic shock in a child with no history of type I hypersensitivity by Atanasković-Marković, Marina, Gavrović-Jankulović, Marija, Cirković Velicković, Tanja, Vucković, Olja, Ivanovski, Petar, Nestorivić, Branimir, Cuturilo, Goran, Simić, Dusica

“…Natural rubber latex is the second most implicated agent in intraoperative anaphylactic reactions. This report describes a case of intraoperative anaphylaxis…”
Get full text

GLUT1 deficiency syndrome: A case report with a novel SLC2A1 mutation by Ivancevic, Nikola, Cerovac, Natasa, Nikolic, Blazo, Cuturilo, Goran, Marjanovic, Ana, Brankovic, Marija, Novakovic, Ivana

“…Introduction. GLUT1 deficiency syndrome (GLUT1 DS, OMIM 606777) is a metabolic brain disorder caused by mutations in SLC2A1 gene (chromosome 1) encoding…”
Get full text

Brain malformations and seizures by impaired chaperonin function of TRiC by Kraft, Florian, Rodriguez-Aliaga, Piere, Yuan, Weimin, Franken, Lena, Zajt, Kamil, Hasan, Dimah, Lee, Ting-Ting, Flex, Elisabetta, Hentschel, Andreas, Innes, A Micheil, Zheng, Bixia, Julia Suh, Dong Sun, Knopp, Cordula, Lausberg, Eva, Krause, Jeremias, Zhang, Xiaomeng, Trapane, Pamela, Carroll, Riley, McClatchey, Martin, Fry, Andrew E, Wang, Lisa, Giesselmann, Sebastian, Hoang, Hieu, Baldridge, Dustin, Silverman, Gary A, Radio, Francesca Clementina, Bertini, Enrico, Ciolfi, Andrea, Blood, Katherine A, de Sainte Agathe, Jean-Madeleine, Charles, Perrine, Bergant, Gaber, Čuturilo, Goran, Peterlin, Borut, Diderich, Karin, Streff, Haley, Robak, Laurie, Oegema, Renske, van Binsbergen, Ellen, Herriges, John, Saunders, Carol J, Maier, Andrea, Wolking, Stefan, Weber, Yvonne, Lochmüller, Hanns, Meyer, Stefanie, Aleman, Alberto, Polavarapu, Kiran, Nicolas, Gael, Goldenberg, Alice, Guyant, Lucie, Pope, Kathleen, Hehmeyer, Katherine N, Monaghan, Kristin G, Quade, Annegret, Smol, Thomas, Caumes, Roseline, Duerinckx, Sarah, Depondt, Chantal, Van Paesschen, Wim, Rieubland, Claudine, Poloni, Claudia, Guipponi, Michel, Arcioni, Severine, Meuwissen, Marije, Jansen, Anna C, Rosenblum, Jessica, Haack, Tobias B, Bertrand, Miriam, Gerstner, Lea, Magg, Janine, Riess, Olaf, Schulz, Jörg B, Wagner, Norbert, Wiesmann, Martin, Weis, Joachim, Eggermann, Thomas, Begemann, Matthias, Roos, Andreas, Häusler, Martin, Schedl, Tim, Tartaglia, Marco, Bremer, Juliane, Pak, Stephen C, Frydman, Judith, Elbracht, Miriam, Kurth, Ingo

“…Malformations of the brain are common and vary in severity, from negligible to potentially fatal. Their causes have not been fully elucidated. Here, we report…”
Get full text

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome by van der Spek, Jet, den Hoed, Joery, Snijders Blok, Lot, Dingemans, Alexander J.M., Schijven, Dick, Nellaker, Christoffer, Venselaar, Hanka, Astuti, Galuh D.N., Barakat, Tahsin Stefan, Bebin, E. Martina, Beck-Wödl, Stefanie, Beunders, Gea, Brown, Natasha J., Brunet, Theresa, Brunner, Han G., Campeau, Philippe M., Čuturilo, Goran, Gilissen, Christian, Haack, Tobias B., Hüning, Irina, Husain, Ralf A., Kamien, Benjamin, Lim, Sze Chern, Lovrecic, Luca, Magg, Janine, Maver, Ales, Miranda, Valancy, Monteil, Danielle C., Ockeloen, Charlotte W., Pais, Lynn S., Plaiasu, Vasilica, Raiti, Laura, Richmond, Christopher, Rieß, Angelika, Schwaibold, Eva M.C., Simon, Marleen E.H., Spranger, Stephanie, Tan, Tiong Yang, Thompson, Michelle L., de Vries, Bert B.A., Wilkins, Ella J., Willemsen, Marjolein H., Francks, Clyde, Vissers, Lisenka E.L.M., Fisher, Simon E., Kleefstra, Tjitske

“…Common diagnostic next-generation sequencing strategies are not optimized to identify inherited variants in genes associated with dominant neurodevelopmental…”
Get full text

A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans–A cohort study by Nina Vodnjov, Janez Toplišek, Aleš Maver, Goran Čuturilo, Helena Jaklič, Nataša Teran, Tanja Višnjar, Maruša Škrjanec Pušenjak, Alenka Hodžić, Olivera Miljanović, Borut Peterlin, Karin Writzl

Get full text

A rare association of interrupted aortic arch type C and microdeletion 22q11.2 by Cuturilo, Goran, Drakulic, Danijela, Stevanovic, Milena, Jovanovic, Ida, Djukic, Milan, Miletic-Grkovic, Slobodanka, Atanaskovic-Markovic, Marina

“…Microdeletion 22q11.2 is associated with a variety of findings, and the most common are cardiac defects. It is very frequently associated with interrupted…”
Get full text

Epilepsy in a child with Wolf-Hirschhorn syndrome by Mitić, Vesna, Cuturilo, Goran, Novaković, Ivana, Dimitrijević, Nikola, Damnjanović, Tatjana, Dimitrijević, Aleksandar, Dobricić, Valerija, Kostić, Vladimir, Radlović, Nedeljko

“…Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder characterized by facial dismorphy, multiple congenital anomalies, delayed psychomotor development…”
Get full text

Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability by Stojanovic, Jelena Ruml, Miletic, Aleksandra, Peterlin, Borut, Maver, Ales, Mijovic, Marija, Borlja, Nikola, Dimitrijevic, Brankica, Soldatovic, Ivan, Cuturilo, Goran

“…Clinical exome sequencing is currently being used in diagnostics of various genetic disorders, but studies supporting its application in clinical setting are…”
Get full text

Mowat-Wilson syndrome--a case report by Cuturilo, Goran, Stefanović, Igor, Jovanović, Ida, Miletić-Grković, Slobodanka, Novaković, Ivana

“…Mowat-Wilson syndrome (MWS) is characterised by severe mental retardation and multiple congenital anomalies. Key features for diagnosis are specific facial…”
Get full text

PITX2 deficiency and associated human disease: insights from the zebrafish model by Hendee, Kathryn E, Sorokina, Elena A, Muheisen, Sanaa S, Reis, Linda M, Tyler, Rebecca C, Markovic, Vujica, Cuturilo, Goran, Link, Brian A, Semina, Elena V

“…Abstract The PITX2 (paired-like homeodomain 2) gene encodes a bicoid-like homeodomain transcription factor linked with several human disorders. The main…”
Get full text