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DODAJ/IZMIJENI OPERATORE PRETRAŽIVANJA
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1.Barišić, Ingeborg; Boban, Ljubica; Loane, M; Garne, E; Wellesley, D; Calzolari, E; Dolk, H; Addor, MC; Bergman, J E; Braz, P et al.Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe // European journal of human genetics, 23 (2015), 6; 746-752 (međunarodna recenzija, članak, znanstveni)
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2.McGivern, MR; Best, KE; Rankin, J; Wellesley, D; Greenlees, R; Addor, MC; Arriola, L; de Walle, H; Barisic, I; Beres, J et al.Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study // Archives of disease in childhood, 100 (2015), 2; 137-144 (podatak o recenziji nije dostupan, članak, znanstveni)
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3.Dumić, Katja; Yuen, T.; Grubić, Zorana; Kušec, Vesna; Barišić, Ingeborg; New, Maria I.Two novel CYP11B1 gene mutations in patients from two Croatian families with 11 β -Hydroxylase deficiency // International journal of endocrinology, / (2014), 185974-1 doi:10.1155/2014/185974 (međunarodna recenzija, članak, znanstveni)
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4.Sansović, Ivona; Dumić Kubat, Katja; Barišić, IngeborgMetoda višestrukog umnažanja vezanih sondi u dijagnostici kongenitalne adrenalne hiperplazije uzrokovane deficitom 21-hidroksilaze // Pediatria Croatica Supplement
Dubrovnik, Hrvatska, 2014. str. 109-109 (poster, domaća recenzija, sažetak, znanstveni) -
5.Kero, Mijana; Morožin-Pohovski, Leona; Čače, Neven; Barišić, IngeborgSindrom Kleefstra: prikaz bolesnika s asimetričnom hipetrofičnom kardiomiopatijom // Pediatria Croatica Supplement
Dubrovnik, Hrvatska, 2014. str. 106-107 (poster, domaća recenzija, sažetak, znanstveni) -
6.Barišić Ingeborg; Boban, Ljubica; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; EUROCAT radna skupinaHolt Oramov sindrom - europska populacijska studija // Pediatria Croatica Supplement
Dubrovnik, Hrvatska, 2014. str. 105-106 (poster, domaća recenzija, sažetak, znanstveni) -
7.Morožin Pohovski, Leona; Barišić, Ingeborg; Riegel, Mariluce; Schinzel, AlbertMolekularna karakterizacija prstenastog kromosoma 9 primjenom tehnike komparativne genomske hibridizacije na mikropostroju // Pediatria Croatica Supplement
Dubrovnik, Hrvatska, 2014. (poster, domaća recenzija, sažetak, znanstveni) -
8.Boban, Ljubica; Barišić, Ingeborg; Loane, Maria; Garne, Rster; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; EUROCAT radna skupinaEllis van Creveldov sindrom - epidemiološka studija u europskoj populaciji // Pediatria Croatica Supplement
Dubrovnik, Hrvatska, 2014. (poster, domaća recenzija, sažetak, ostalo) -
9.Dumić Kubat, Katja; Grubić, Zorana; Barišić, Ingeborg; Štingl, Katarina; Yuen, Tony; Wilson, Robert; Dumić, Miroslav; Škrabic, Veselin; Kušec, Vesna; I New, MariaMolekularno-genetička analiza gena CYP21A2 i korelacija genotipa i fenotipa u bolesnika s klasičnim oblikom kongenitalne adrenalne hiperplazije u Hrvatskoj // Pediatria Croatica Supplement
Dubrovnik, Hrvatska, 2014. str. 100-101 (poster, domaća recenzija, sažetak, ostalo) -
10.Boban LjubicaKlinički i biološka obilježja rijetkih genetskih sindroma u europskoj populaciji, 2014., doktorska disertacija, Medicinski fakultet Sveučilišta u Zagrebu, Zagreb
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11.Morožin Pohovski, L; Barišić, IIdentification of microdeletion 8q23.3q24.11 by MLPA in patient with multiple hereditary exostoses // European journal of human genetics Supplement 1
Milano, Italija: Nature Publishing Group, 2014. str. 447-448 (poster, međunarodna recenzija, sažetak, znanstveni) -
12.Sansović, I; Morožin Pohovski, L; Barišić, IMicroduplication of Xp22.31 region involving the STS gene in two males with intellectual disability // European journal of human genetics
Milano, Italija: Nature Publishing Group, 2014. str. 163-164 (poster, međunarodna recenzija, sažetak, znanstveni) -
13.Taruscio, D; Arriola, L; Baldi, F; Barišić, I; Bermejo-Sánchez, E; Bianchi, F; Calzolari, E; Carbone, P; Curran, R; Garne, E et al.European recommendations for primary prevention of congenital anomalies: a joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the National Rare Disease Plans // Public Health Genomics, 17 (2014), 115-123 doi:10.1159/00036060 (podatak o recenziji nije dostupan, ostalo)
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14.Calzolari, E.; Barišić, Ingeborg; Loane, M.; Morris, J.; Wellesley, D.; Dolk, H.; Addor, M.C.; Arriola, L.; Bianchi, F.; Neville, A.J. et al.Epidemiology of multiple congenital anomalies in Europe : A EUROCAT population-based registry study // Birth defects research. Part A. Clinical and molecular teratology, 100 (2014), 4; 270-276 doi:10.1002/bdra.23240 (međunarodna recenzija, članak, znanstveni)
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15.Morožin-Pohovski, L; Barišić, I:Multiple ligation-dependent proble amplification (MLPA) genetic testing in the diagnostics of children with developmental delay/intellectual disabilities // Folia Medica Facultatis Medicinae Universitatis Saraeviensis
Sarajevo, 2014. str. 15-21 (predavanje, cjeloviti rad (in extenso), ostalo) -
16.Best, K.E.; Addor, M.C.; Arriola, L.; Balku, E.; Barišićc, Ingeborg; Bianchi, F.; Calzolari, E.; Curran, R.; Doray, B.; Draper, E. et al.Hirschsprung's disease prevalence in Europe : A register based study // Birth defects research. Part A. Clinical and molecular teratology, 100 (2014), 9; 695-702 doi:10.1002/bdra.23269 (međunarodna recenzija, članak, znanstveni)
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17.Primorac, Dragan; Antičević, Darko; Barišić, Ingeborg; Hudetz, Damir; Ivković, AlanOsteogenesis Imperfecta – Multi-Systemic and Life - Long Disease that Affects Whole Family // Collegium antropologicum, 38 (2014), 767-772 (međunarodna recenzija, članak, znanstveni)
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18.Morris, J.K.; Garne, E.; Wellesley, D.; Addor, M.C.; Arriola, L.; Barišić, Ingrborg; Beres, J.; Bianchi, F.; Budd, J.; Dias, C.M. et al.Major congenital anomalies in babies born with Down syndrome : A EUROCAT population-based registry study // American journal of medical genetics. Part A, 164 (2014), 12; 2979-2986 doi:10.1002/ajmg.a.36780 (međunarodna recenzija, članak, znanstveni)
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19.Barisic, I; Boban, L; Greenlees, R; Garne, E; Wellesley, D; Calzolari, E; Addor, MC; Arriola, L; Bergman, J; Braz, P et al.Holt Oram syndrome: a registry-based study in Europe // Orphanet Journal of Rare Disease, 9 (2014), 156-156 (podatak o recenziji nije dostupan, članak, ostalo)
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20.Zergollern-Čupak, Ljiljana; Barišić, Ingeborg; Morožin-Pohovski, LeonaDevelopment of genetics in the world and in Croatia – forty years of the Croatian Society of Human Genetics of the Croatian Medical Association // Collegium antropologicum, 38 (2014), 3; 809-818 (podatak o recenziji nije dostupan, ostalo)
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21.Barišić, Ingeborg; Odak, Ljubica; Loane, M.; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; Addor, Marie-Claude; Arriola, Larraitz; Bergman, Jorieke et al.Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe // European journal of human genetics, 22 (2014), 8; 1026-1033 doi:10.1038/ejhg.2013.287 (međunarodna recenzija, članak, znanstveni)
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22.Cohn, G.M.; Morin, I.; Whiteman, D.A.; ...; Barišič, Ingeborg; ...Development of a mnemonic screening tool for identifying subjects with Hunter syndrome // European journal of pediatrics, 172 (2013), 7; 965-970 doi:10.1007/s00431-013-1967-x (međunarodna recenzija, članak, znanstveni)
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23.Barišić IngeborgDijagnostički algoritam za dijete s razvojnim zaostajanjem // Pedijatrija danas 2013: neki dijagnostički i terapijski prijepori
Zagreb, Hrvatska: Medicinska naklada, 2013. str. 11-17 (predavanje, domaća recenzija, cjeloviti rad (in extenso), stručni) -
24.Odak, Ljubica; Morožin-Pohovski, Leona; Barišić, IngeborgMikrodelecija 17q21.31- prikaz dvaju bolesnika // Paediatria Croatica, 57 (2013), 1; 45-48 (recenziran, članak, stručni)
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25.Barišić, Ingeborg; Morožin Pohovski, LeonaNovi mikrodelecijski sindromi // Paediatria Croatica, 57 (2013), 4; 400-407 (recenziran, članak, stručni)
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26.Morožin Pohovski; Leona; Barišić, IngeborgMicrodeletion syndromes: copy number aberrations in patients with developmental delay/intellectual disability detected by MLPA // Chromosome Research. Supplement 1
Dublin, Irska, 2013. str. 66-67 (poster, međunarodna recenzija, sažetak, ostalo) -
27.Luteijn, J.M.; Dolk, H.; Addor, M.C.; Arriola, L.; Bakker, M.; Barišić, Ingeborg; Bianchi, F.; Calzolari, E.; Draper, E.; Garne, E. et al.Seasonality of births and congenital anomalies in Europe // Birth defects research. Part A. Clinical and molecular teratology, 100 (2013), 4; 260-269 doi:10.1002/bdra.23231 (međunarodna recenzija, članak, znanstveni)
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28.Višnjić, Stjepan; Car, Andrija; Kralj, RokStenosis of the small intestine after reduction of strangulated Littre hernia in an infant // Hernia, 17 (2013), 2; 285-288 doi:10.1007/s10029-011-0861-6 (recenziran, članak, stručni)
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29.Odak, Ljubica; Barišić, Ingeborg; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, HelenMeckel Gruber syndrome in Europe- population based study // The Eighth ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine, Book of Abstracts
Split, Hrvatska, 2013. str. 253-253 (poster, međunarodna recenzija, sažetak, ostalo) -
30.Morožin Pohovski, Leona; Barišić, IngeborgDetection of subtelomeric copy number aberrations in patients with developmental delay/intellectual disability by MLPA // The Eighth ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine, Book of Abstracts
Split, Hrvatska, 2013. str. 290-290 (poster, međunarodna recenzija, sažetak, ostalo) -
31.Dumić Kubat, Katja; Morava, Eva; Barišić, IngeborgPatient with autosomal recessive cutis laxa type 2B due to PYCR1 gene mutation // The Eighth ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine, Book of Abstracts
Split, Hrvatska, 2013. str. 244-244 (poster, međunarodna recenzija, sažetak, ostalo) -
32.Petković, Giorgie; Barišić, IngeborgFetal alcohol syndrome prevalence in rural Krapinsko –Zagorska county // The Eighth ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine, Book of Abstracts
Split, Hrvatska, 2013. str. 318-318 (poster, međunarodna recenzija, sažetak, ostalo) -
33.Sansović, Ivona; Dumić Kubat, Katja; Barišić, IngeborgMolekularna analiza gena MECP2 u bolesnica sa sindromom Rett // Paediatria Croatica, 57 (2013), 4; 408-415 doi:10.13112/PC.2013.14 (međunarodna recenzija, članak, znanstveni)
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34.Morožin Pohovski, LeonaMeđunarodni sustav nomenklature u humanoj citogenetici – ISCN 2013 // Paediatria Croatica, 57 (2013), 4; 387-391 (recenziran, članak, stručni)
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35.Kero, Mijana; Dumić Kubat, Katja; Antičević, Darko; Barišić, IngeborgSindrom poplitealnog pterigija // Paediatria Croatica
Zagreb, Hrvatska, 2013. str. 303-303 (predavanje, domaća recenzija, sažetak, ostalo) -
36.Boban, Ljubica; Barišić, Ingeborg; Loane, Maria; Garne, Ester; Wellesley, Diana; Calzolari, Elisa; Dolk, Helen; EUROCAT Working groupBeckwith Wiedemannov sindrom - europska epidemiologijska studija // Paediatria Croatica
Zagreb, Hrvatska, 2013. str. 308-308 (predavanje, domaća recenzija, sažetak, ostalo) -
37.Dumić Kubat, KatjaGentički aspekti kongenitalne adrenalne hiperplazije u Hrvatskoj // Paediatria Croatica
Zagreb, Hrvatska, 2013. str. 306-306 (predavanje, međunarodna recenzija, sažetak, ostalo) -
38.Morožin Pohovski, Leona; Barišić, IngeborgProbir mikrodelecijskih/mikroduplikacijskih sindroma tehnikom višestrukog umnožavanja vezanih sondi (MLPA) // Paediatria Croatica
Zagreb, Hrvatska, 2013. str. 301-301 (predavanje, domaća recenzija, sažetak, ostalo) -
39.Ghiassi-Nejad, Zahra; Hernandez-Gea, Viviana; Woodrell, Christopher; Lang, Ursula; Dumić Kubat, Katja; Kwong, Angela; Friedman, ScottReduced hepatic stellate cell expression of Kruppel-like factor 6 tumor suppressor isoforms amplifies fibrosis during acute and chronic rodent liver injury // Hepatology (Baltimore, Md.), 57 (2013), 2; 786-796 doi:10.1002/hep.26056 (međunarodna recenzija, članak, znanstveni)
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40.Odak, Ljubica; Barišić, Ingeborg; Loane, M; Garne, E; Wellesley, D; Calzolari, E; Dolk, H; EUROCAT Working GroupAdvancing rare disease research: the use of network of congenital anomaly registries in the study of rare genetic syndromes // Book of abstracts of 12th European Symposium on Congenital Anomalies
Zagreb: European Surveillance of Congenital Anomalies Association, 2013. str. 89-89 (poster, međunarodna recenzija, sažetak, ostalo) -
41.Kero, Mijana; Morožin Pohovski, Leona; Sansović, Ivona; Odak, Ljubica; Dumić, Katja; Barišić, IngeborgCongenital anomalies in patients with submicroscopic chromosome abnormalities // Book of abstracts of 12th European Symposium on Congenital Anomalies
Zagreb: European Surveillance of Congenital Anomalies Association, 2013. str. 69-69 (poster, međunarodna recenzija, sažetak, ostalo) -
42.Odak, Ljubica; Mahulja Stamenković, V; Vondraček, N; Magaš, K; Milevoj Ražem, M; Jurković, M; Kmet, R; Barišić, IngeborgEpidemiology of orofacial clefts in Northern Croatia // Book of abstracts of 12th European Symposium on Congenital Anomalies /
Zagreb: European Surveillance of Congenital Anomalies Association, 2013. str. 51-51 (poster, međunarodna recenzija, sažetak, ostalo) -
43.Odak, LJubica; Mahulja Stamenković, V; Vondraček, N; Magaš, K; Milevoj Ražem, M; Jurković, M; Kmet, R; Barišić, IngeborgA study on congenital limb anomalies in Northern Croatia // Book of abstracts of 12th European Symposium on Congenital Anomalies /
Zagreb: European Surveillance of Congenital Anomalies Association, 2013. str. 50-50 (poster, međunarodna recenzija, sažetak, ostalo) -
44.Dumić Kubat, Katja; Grubić, Zorana; Krnić, Nevena; Škrabić, Veselin; Stipančić, Gordana; Kušec, Vesna; Štingl, Katarina; Barišić, IngeborgClassical Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency in Croatia Between 1995 and 2012 // Book of abstracts of 12th European Symposium on Congenital Anomalies /
Zagreb: European Surveillance of Congenital Anomalies Association, 2013. str. 95-96 (poster, međunarodna recenzija, sažetak, ostalo) -
45.Sansović, Ivona; Barišić, IngeborgMolecular testing of FGFR3 gene in patients with achondroplasia and hypochondroplasia from Croatia // Book of abstracts of 12th European Symposium on Congenital Anomalies /
Zagreb: European Surveillance of Congenital Anomalies Association, 2013. str. 72-72 (poster, međunarodna recenzija, sažetak, znanstveni) -
46.Sansović, Ivona; Barišić, IngeborgDetection of full mutation FMR1 and AFF2 alleles by Methylation- Specific Multiplex Ligation-dependent Probe Amplification method in male patients with intellectual disability // European Journal of Human Genetics
Pariz, Francuska: Nature Publishing Group, 2013. str. 171-171 (poster, međunarodna recenzija, sažetak, znanstveni) -
47.Dimopoulou, A.; Fischer, B.; Gardeitchik, T.; Schröter, P.; Kayserili, H.; Schlack, C.; Li, Y.; Brum, J.M.; Barišić, Ingeborg; Castori, M. et al.Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa // Molecular genetics and metabolism, 110 (2013), 3; 352-361 doi:10.1016/j.ymgme.2013.08.009 (međunarodna recenzija, članak, znanstveni)
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48.Petković, Giorgie; Barišić, IngeborgPrevalence of fetal alcohol syndrome and maternal characteristics in a sample of schoolchildren in rural province of Croatia // International journal of environmental research and public health, 10 (2013), 4; 1547-1561 doi:10.3390/ijerph10041547 (međunarodna recenzija, članak, znanstveni)
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49.Wijers, C.H.V.; van Rooij, I.; Bakker, M.; Marcelis, C.; Addor, M.; Barišić, Ingeborg; Béres, J.; Bianca, S.; Bianchi, F.; Calzolari, E. et al.Anorectal malformations and pregnancy-related disorders : a registry-based case-control study in 17 European regions // BJOG, 120 (2013), 9; 1066-1074 doi:10.1111/1471-0528.12235 (međunarodna recenzija, članak, znanstveni)
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50.Jones, S.A.; Parini, R.; Harmatz, P.; Giugliani, R.; Fang, J.; Mendelsohn, N.J.; ...; Barić, Ivo; Barišić, Ingeborg; ...The effect of idursulfase on growth in patients with Hunter syndrome : data from the Hunter Outcome Survey (HOS) // Molecular genetics and metabolism, 109 (2013), 1; 41-48 doi:10.1016/j.ymgme.2013.03.001 (međunarodna recenzija, članak, znanstveni)
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51.Barišić, Ingeborg; Odak, Ljubica; Loane, M.; Garne, E.; Wellesley, D.; Calzolari, E.; Dolk, H.; Addor, M.C.; Arriola, L.; Bergman, J. et al.Fraser syndrome : epidemiological study in a European population // American journal of medical genetics. Part A, 161A (2013), 5; 1012-1018 doi:10.1002/ajmg.a.35839 (međunarodna recenzija, članak, znanstveni)
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52.Morožin-Pohovski, Leona; Dumić Kubat, Katja, Odak, Ljubica; Barišić, IngeborgMultiplex ligation-dependent probe amplification workflow for the detection of submicroscopic chromosomal abnormalities in patients with developmental delay/intellectual disability // Molecular cytogenetics, 6 (2013), 1; 7-7 (međunarodna recenzija, članak, znanstveni)
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53.Sansović, Ivona; Barišić, Ingeborg; Dumić Kubat, KatjaImproved detection of deletions and duplications in the DMD gene using the multiplex ligation-dependent probe amplification (MLPA) method // Biochemical genetics, 51 (2013), 3/4; 189-201 doi:10.1007/s10528-012-9554-9 (međunarodna recenzija, članak, znanstveni)
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54.Khoshnood, B.; Loane, M.; Garne, E.; Addor, M.C.; Arriola, L.; Bakker, M.; Barišić, Ingeborg; Bianca, S.; Boyd, P.; Calzolari, E. et al.Recent decrease in the prevalence of congenital heart defects in Europe // Journal of pediatrics, 162 (2013), 1; 108-113 doi:10.1016/j.jpeds.2012.06.035 (međunarodna recenzija, članak, znanstveni)
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55.Barišić, IAutistički spektar poremećaja // Zbornik radova XIII. simpozija preventivne pedijatrije
Skrad, Hrvatska, 2012. str. 18-24 (predavanje, domaća recenzija, sažetak, ostalo) -
56.Dumić Kubat, KatjaKliničke, molekularne i biokemijske karakteristike bolesnka s kongenitalnoma adrenalnom hiperplazijom zbog nedostatka 21- hidroksilaze, 2012., doktorska disertacija, Medicinski fakultet, Zagreb
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57.Jadrešin, Oleg; Jaklin Kekez, Alemka; Jakovljević, Gordana; Lohse, P; Mišak, Zrinjka; Hojsak, Iva; Barišić, Ingeborg; Kolaček, SanjaSindrom Shwachman-Diamond – serija slučajeva // Paediatria Croatica
Pula, Hrvatska, 2012. str. 97-97 (poster, domaća recenzija, sažetak, ostalo) -
58.Dumić Kubat, Katja; Barišić, IngeborgDvije nove mutacije (c133delG i R151Q) i R448H mutacija gena CYP11B u bolesnika s kongenitalnom adrenalnom hiperplazihjom zbog manjka 11beta-hidroksilaze // Paediatria Croatica
Pula, Hrvatska, 2012. str. 226-226 (poster, domaća recenzija, sažetak, ostalo) -
59.Morožin Pohovski, Leona; Barišić, IngeborgMLPA as screening method in detection of submicroscopic rearrangements detected in patients with developmental delay/intellectual disability // European Journal of Human Genetics
Nürnberg, Njemačka: Nature Publishing Group, 2012. str. 123-123 (poster, međunarodna recenzija, sažetak, ostalo) -
60.Barišić, Ingeborg; Dumić Kubat, Katja; Morožin Pohovski, Leona; Petković, Iskra; Riegel M, Schinzel, AlbertArray CGH characterisation of ring chromosome 9 formation due to inverted duplication and terminal deletion in a patient with sex- reversal // European Journal of Human Genetics
Nürnberg, Njemačka, 2012. str. 127-127 (poster, međunarodna recenzija, sažetak, ostalo) -
61.Barišić, Ingeborg; Loane, M; Curran, R; Garne, E; Vrijeheid Taruscio, D; Morris, J; Bakker, M; Irgent, L; Calzolari, E; Khoshnood, B et al.Joint Action EUROCAT 2011-2013 Funded by the Public Health Programme 2008-2013 of the European Commission // Hrvatski časopis za javno zdravstvo, 8 (2012), 31; 21-24 (podatak o recenziji nije dostupan, pregledni rad, stručni)
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62.Morožin Pohovski, Leona; Barišić, IngeborgProbir aberacija subtelomera i mikrodelecijskih sindroma u bolesnika s razvojnim /intelektualnim smetnjama metodom MLPA // Paediatria Croatica, 56 (2012), 2; 18-21 (međunarodna recenzija, članak, znanstveni)
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63.Garne, E.; Loane, M.; Dolk, H.; Barišić, Ingeborg; Addor, M.C.; Arriola, L.; Bakker, M.; Calzolari, E.; Matias Dias, C.; Doray, B. et al.Spectrum of congenital anomalies in pregnancies with pregestational diabetes // Birth defects research. Part A. Clinical and molecular teratology, 94 (2012), 3; 134-140 doi:10.1002/bdra.22886 (međunarodna recenzija, članak, znanstveni)
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64.Pedersen, R.N.; Calzolari, E.; Husby, S.; Garne, E.; EUROCAT Working groupOesophageal atresia : prevalence, prenatal diagnosis and associated anomalies in 23 European regions // Archives of disease in childhood, 97 (2012), 3; 227-232 doi:10.1136/archdischild-2011-300597 (međunarodna recenzija, članak, znanstveni)
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65.Jaklin Kekez, Alemka; Batinica, Maja; Voskresensky Baričić, Tamara; Gagro, Alenka; Barišić, Ingeborg; Dumić, Katja; Kapović, Agneza Marija; La Grasta Sabolić, LaviniaStečena generalizirana lipodistrofija povezana s panikulitisom i autoimunim poremećajima – prikaz slučaja // Paediatria Croatica, 56 (2012), 115-116 (podatak o recenziji nije dostupan, ostalo, stručni)
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66.Petković, GiorgieUčestalost fetalnog alkoholnog sindroma u školske djece sjeverozapadne Hrvatske, 2012., doktorska disertacija, Medicinski fakultet, Zagreb
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67.Mastroiacovo, Pierpaolo; ...; Barišić, Ingeborg; ...; Zhuchenko, Ludmila A.Prevalence at birth of cleft lip with or without cleft palate : data from the International Perinatal Database of Typical Oral Clefts (IPDTOC) // Cleft palate-craniofacial journal, 48 (2011), 1; 66-81 doi:10.1597/09-217 (međunarodna recenzija, članak, znanstveni)
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68.Barišić, IngeborgEtički aspekti genetičkog testiranja u djece // Bioetika i dijete / Čović, Ante ; Radonić, Marija (ur.).
Zagreb: Pergamena, 2011. str. 121-140 -
69.Odak, Ljubica; Barišić, Ingeborg; Loane, M; Calzolari, E; Garne, E; Wellesley, D; Dolk, HPrenatal ultrasound diagnosis of oculoauriculovertebral spectrum disorder // Facts, Views & Vision in obGyn, Book of Abstracts
Antwerpen, Belgija, 2011. str. 32-32 (poster, međunarodna recenzija, sažetak, znanstveni) -
70.Dumić, Katja; Barišić, Ingeborg; Garg, AA patient with atypical progeria syndrome due to heterozygous E159 mutation in LMNA gene // 7th ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine Book of Abstracts
Zagreb: ISABS – International Society for Applied Biological Sciences, 2011. (poster, međunarodna recenzija, sažetak, znanstveni) -
71.Sansović, Ivona; Barišić, IngeborgImproved detection of deletions/duplications in the DMD gene using the multiplex-ligation-dependent probe amplification (MLPA) method // 7th ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine Book of Abstracts
Zagreb: ISABS – International Society for Applied Biological Sciences, 2011. str. 268-268 (predavanje, međunarodna recenzija, sažetak, znanstveni) -
72.Morožin Pohovski, LeonaProbir aberantnih subtelomera u dijagnostici razvojnog zaostajanja/mentalne retardacije primjenom metode višestrukog umnožavanja vezanih sondi (MLPA), 2011., doktorska disertacija, Prirodoslovno-matematički fakultet, Biološki odsjek, Zagreb
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73.Roganović, Jelena; Barišić, Ingeborg; Jonjić, NivesAngiokeratoma in Fabry disease: diagnostic but not treatment effectiveness marker // 7th ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine Book of Abstracts
Zagreb: ISABS – International Society for Applied Biological Sciences, 2011. str. 266-266 (predavanje, međunarodna recenzija, sažetak, ostalo) -
74.Morožin Pohovski, Leona; Barišić, IngeborgScreening of patients with mental retardation using subtelomeric MLPA assay // 7th ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine Book of Abstracts
Zagreb: SABS – International Society for Applied Biological Sciences, 2011. str. 258-258 (predavanje, međunarodna recenzija, sažetak, stručni) -
75.Dumić, Katja; Krnić, Nevena; Škrabć, Veselin; Stipančić, Gordana; Kušec, Vesna; Štingl, Katarina; Barišić, IngeborgClassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia between 1995 and 2010 // 7th ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine Book of Abstracts
Zagreb: ISABS – International Society for Applied Biological Sciences, 2011. str. 252-252 (predavanje, međunarodna recenzija, sažetak, stručni) -
76.Dumić, Katja; Morožin-Pohovski, Leona; Barišić, IngeborgDuplication of pseudoautosomal region 1 and SHOX gene could be linked with characteristic phenotype // Europan Journal of Human Genetics. Supplement 2
Amsterdam: Nature Publishing Group, 2011. str. 121-121 (poster, međunarodna recenzija, sažetak, ostalo) -
77.Sansović, Ivona; Barišić, Ingeborg; Dumić, KatjaNovel triple deletion of the MECP2 gene in atypical Rett syndrome patient // European journal of human genetics. Supplement 2
Amsterdam: Nature Publishing Group, 2011. str. 118-118 (poster, međunarodna recenzija, sažetak, znanstveni) -
78.Odak, Ljubica; Barišić, Ingeborg; Loane, M; Calzolari, E; Garne, E; Wellesley, D; Dolk, HEpidemiological study of Beckwith Wiedemann syndrome in European population // European Journal of Human Genetics. Supplement 2
Amsterdam: Nature Publishing Group, 2011. str. 329-329 (poster, međunarodna recenzija, sažetak, znanstveni) -
79.Odak, Ljubica; Barišić, Ingeborg, Petković, Iskra; Riegel, M; Schinzel, AClinical and cytogenetic findings in a girl with dup16 (q12.1q21) // European journal of human genetics. Supplement 2
Amsterdam: Nature Publishing Group, 2011. str. 84-84 (poster, međunarodna recenzija, sažetak, znanstveni) -
80.Barišić, Ingeborg; Petković, GiorgieFetal alcohol syndrome in urban schools // Pregnancy and Alcohol Consumption / Hoffman, Joshua D (ur.).
New York (NY): Nova Science Publishers, 2011. str. 281-298 -
81.Odak, Ljubica; Barišić, Ingeborg; Morožin Pohovski, Leona; Riegel, Mariluce; Schinzel, AlbertA novel de novo dir dup (16) (q12.1-q21) in a girl with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report and review of the literature // 7th ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine Book of Abstracts
Zagreb: ISABS – International Society for Applied Biological Sciences, 2011. str. 295-295 (poster, međunarodna recenzija, sažetak, stručni) -
82.Odak, Ljubica; Barišić, Ingeborg; Morožin Pohovski, Leona; Sansović, Ivona; Dumić, Katja; Jakušić, Nenad; Klobučar, Aleksandra; Grgurić, JosipDiagnostic algorithm for children with autism // 7th ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine Book of Abstracts
Zagreb: ISABS – International Society for Applied Biological Sciences, 2011. str. 261-261 (predavanje, međunarodna recenzija, sažetak, stručni) -
83.Odak, Ljubica; Barišić, Ingeborg; Loane, M; Calzolari, E; Garne, E; Wellesey, D; Dolk, H; EUROCAT Working groupBeckwith Wiedemann syndrome: clinical and epidemiological study of a large series of patients in Europe // 7th ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine Book of Abstracts
Zagreb: ISABS – International Society for Applied Biological Sciences, 2011. str. 294-294 (poster, međunarodna recenzija, sažetak, znanstveni) -
84.Dumić, Katja; Barišić, Ingeborg; Poročki, Kristina; Sansović, IvonaHypochondroplasia due to FGFR3 gene mutation (N540K) and mosaic form of Down syndrome in the same patient // Journal of applied genetics, 52 (2011), 2; 209-212 doi:10.1007/s13353-010-0024-y (podatak o recenziji nije dostupan, prikaz, znanstveni)
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85.Dolk, H.; Loane, M.; Garne, E.; EUROCAT Working Group; Barišić, IngeborgCongenital heart defects in Europe : prevalence and perinatal mortality, 2000 to 2005 // Circulation, 123 (2011), 8; 841-849 doi:10.1161/CIRCULATIONAHA.110.958405 (međunarodna recenzija, pregledni rad, znanstveni)
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86.Greenlees, Ruth; Neville, Amanda; Addor, Marie-Claude; Amar, Emmanuelle; Arriola, Larraitz; Bakker, Marian; Barišić, Ingeborg; Boyd, Patricia A; Calzolari, Elisa; Doray, Berenice et al.Paper 6: EUROCAT member registries: organization and activities // Birth defects research. Part A. Clinical and molecular teratology, 91 (2011), Supp 1; S51-S100 doi:10.1002/bdra.20775 (međunarodna recenzija, pregledni rad, znanstveni)
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87.Khoshnood, B.; Greenlees, R.; Loane, M.; Dolk, H.; EUROCAT Project Management Committee; EUROCAT Working Group; Barišić, IngeborgPaper 2 : EUROCAT public health indicators for congenital anomalies in Europe // Birth defects research. Part A. Clinical and molecular teratology, 91 (2011), Sp.Issue; S16-S22 doi:10.1002/bdra.20776 (međunarodna recenzija, pregledni rad, znanstveni)
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88.Loane, M.; Dolk, H.; Kelly, A.; Teljeur, C..; Greenlees, R; Densem, J.; EUROCAT Working Group; Barišić, IngeborgPaper 4 : EUROCAT statistical monitoring: identification and investigation of ten year trends of congenital anomalies in Europe // Birth defects research. Part A. Clinical and molecular teratology, 91 (2011), Sp.Issue; S31-S43 doi:10.1002/bdra.20778 (međunarodna recenzija, pregledni rad, znanstveni)
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89.Garne, Ester; Dolk, Helen; Loane, Maria; Wellesley, Diana; Barišić, Ingeborg; Calzolari, Elisa; Densem, James; EUROCAT Working GroupPaper 5 : Surveillance of multiple congenital anomalies: implementation of a computer algorithm in European registers for classification of cases // Birth defects research. Part A. Clinical and molecular teratology, 91 (2011), Supp 1; S44-S50 doi:10.1002/bdra.20777 (međunarodna recenzija, pregledni rad, znanstveni)
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90.Loane, M.; Dolk, H.; Garne, E.; Greenlees, R.; EUROCAT Working Group; Barišić, IngeborgPaper 3 : EUROCAT data quality indicators for population-based registries of congenital anomalies // Birth defects research. Part A. Clinical and molecular teratology, 91 (2011), Sp. Issue; S23-S30 doi:10.1002/bdra.20779 (međunarodna recenzija, pregledni rad, znanstveni)
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91.Boyd, P.A.; Haeusler, M.; Barišić, Ingeborg, Loane, M.; Garne, E.; Dolk, H.Paper 1 : The EUROCAT network-organization and processes // Birth defects research. Part A. Clinical and molecular teratology, 91 (2011), Sp.Issue; S2-S15 doi:10.1002/bdra.20780 (međunarodna recenzija, pregledni rad, znanstveni)
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92.Boyd, P.A.; Haeusler, M.; Barišić, IngeborgEUROCAT Report 9: Surveillance of congenital anomalies in Europe 1980-2008 // Birth defects research. Part A. Clinical and molecular teratology, 91 (2011), Sp.I.; S1-S1 (podatak o recenziji nije dostupan, uvodnik, znanstveni)
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93.Burton, B.K.; Whiteman, D.A.; HOS investigators; Barišić, Ingeborg; Barić, IvoIncidence and timing of infusion-related reactions in patients with mucopolysaccharidosis type II (Hunter syndrome) on idursulfase therapy in the real-world setting: a perspective from the Hunter Outcome Survey (HOS) // Molecular genetics and metabolism, 103 (2011), 2; 113-120 doi:10.1016/j.ymgme.2011.02.018 (međunarodna recenzija, članak, znanstveni)
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94.Odak, Ljubica; Barišić, Ingeborg; Morožin Pohovski, Leona; Riegl, M.; Schinzel, AlbertNovel duplication on chromosome 16 (q12.1-q21) associated with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report // Croatian Medical Journal, 52 (2011), 3; 415-422 doi:10.3325/cmj.2011.52.415 (podatak o recenziji nije dostupan, prikaz, znanstveni)
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95.Turnpenny, Peter; Ellard, SianEmeryjeve osnove medicinske genetike / Barišić, Ingeborg ; Bulić-Jakuš, Floriana (ur.).
Zagreb: Medicinska naklada, 2011 -
96.Barišić, IGenetičko savjetovanje - stajalište Hrvatskog društva za humanu genetiku Hrvatskog liječničkog zbora // Paediatria Croatica, 54 (2010), 213-216 (međunarodna recenzija, članak, znanstveni)
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97.Odak, Ljubica; Barišić, Ingeborg; Loane, M; Calzolari, E; Garne, E; Wellesey, D; Dolk, H; EUROCAT Working groupTreacher Collins syndrome- multicentrična studija u europskoj populaciji // Paediatria Croatica. Supplement 2 / Barišić, Ingeborg (ur.).
Zagreb: Denona, 2010. str. 54-54 (poster, domaća recenzija, sažetak, znanstveni) -
98.Odak, Ljubica; Milevoj Ražem, Mirna; Mahulja Stamenković, Vesna; Vondraček, Nenad; Magaš, Karmen; Barišić, IngeborgPrirođene srčane grješke u sjeverozapadnoj Hrvatskoj // Paediatria Croatica. Supplement 2 / Barišić, Ingeborg (ur.).
Zagreb: Denona, 2010. str. 82-83 (poster, domaća recenzija, sažetak, ostalo) -
99.Odak, Ljubica; Milevoj Ražem, Mirna; Mahulja Stamenković, Vesna; Vondraček, Nenad; Magaš, Karmen; Barišić, IngeborgPrenatalna dijagnoza Downovog sindroma u četiri Hrvatske regije // Paediatria Croatica. Supplement 2 / Barišić, Ingeborg (ur.).
Zagreb: Denona, 2010. str. 82-83 (poster, domaća recenzija, sažetak, znanstveni) -
100.Dumić, Katja; Morožin Pohovski, Leona; Barišić, IngeborgKlinička i molekularna analiza nasljedne duplikacije gena SHOX i evolucijski očuvane sekvence u SHOX3' regiji // Paediatria Croatica. Supplement 2. / Barišić, Ingeborg (ur.).
Zagreb: Denona, 2010. str. 80-80 (poster, domaća recenzija, sažetak, znanstveni)
