Pregled po CROSBI profilu: Ingeborg Barišić (CROSBI Profil: 13659, MBZ: 168183)
Pronađeno 523 radova
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101.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) -
102.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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103.Kero, Mijana; Dumić Kubat, Katja; Antičević, Darko; Barišić, IngeborgSindrom poplitealnog pterigija // Paediatria Croatica
Zagreb, Hrvatska, 2013. str. 303-303 (predavanje, domaća recenzija, sažetak, ostalo) -
104.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) -
105.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) -
106.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) -
107.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) -
108.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) -
109.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) -
110.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) -
111.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) -
112.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) -
113.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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114.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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115.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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116.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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117.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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118.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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119.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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120.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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121.Mejaški-Bošnjak, Vlatka; Grgurić, Josip; Barišić, Ingeborg; Zakanj, Zora; Miličić, Gordana; Marn, Borut; Kolaček, Sanja; Jakušić, Nenad; Popović, Ljiljana; Vrcić, Mladenka et al.Pedijatrijska laboratorijska medicina. U: Zdravstvena zaštita dojenčadi i male djece, Poslijediplomski studij "Obiteljska medicina" (Izabrana poglavlja) Medicinskog fakulteta Sveučilišta u Zagrebu / Mejaški-Bošnjak, Vlatka (ur.).
Zagreb: Medicinski fakultet Sveučilišta u Zagrebu, 2013 -
122.Barišić, IAutistički spektar poremećaja // Zbornik radova XIII. simpozija preventivne pedijatrije
Skrad, Hrvatska, 2012. str. 18-24 (predavanje, domaća recenzija, sažetak, ostalo) -
123.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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124.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) -
125.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) -
126.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) -
127.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) -
128.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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129.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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130.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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131.Jadrešin, Oleg; Jaklin Kekez, Alemka; Jakovljević, Gordana; Lohse P; Mišak, Zrinjka; Hojsak, Iva; Barišić, Ingeborg; Kolaček, Sanja.Sindrom Shwachman-Diamond – serija slučajeva // Paediatria Croatica
Pula, Hrvatska, 2012. (poster, domaća recenzija, sažetak, stručni) -
132.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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133.Petković, GiorgieUčestalost fetalnog alkoholnog sindroma u školske djece sjeverozapadne Hrvatske, 2012., doktorska disertacija, Medicinski fakultet, Zagreb
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134.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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135.Barišić, IngeborgEtički aspekti genetičkog testiranja u djece // Bioetika i dijete / Čović, Ante ; Radonić, Marija (ur.).
Zagreb: Pergamena, 2011. str. 121-140 -
136.Bulić-Jakuš Floriana; Barišić IngeborgEmeryeve osnove medicinske genetike, 2011. (podatak o recenziji nije dostupan, izvještaj).
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137.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) -
138.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) -
139.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) -
140.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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141.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) -
142.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) -
143.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) -
144.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) -
145.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) -
146.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) -
147.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) -
148.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 -
149.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) -
150.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)
