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"PROJEKT: (Istraživanje epidemiologijskih i genetičkih osnova prirođenih mana (MZOS-072-1083107-0365))"
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)
