Pregled po projektu: Istraživanje epidemiologijskih i genetičkih osnova prirođenih mana (MB: MZOS-072-1083107-0365)
Pronađeno 210 radova
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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)
