Pregled po projektu: Istraživanje epidemiologijskih i genetičkih osnova prirođenih mana (MB: MZOS-072-1083107-0365)
Pronađeno 210 radova
-
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)
-
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)
-
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)
-
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)
-
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
-
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)
-
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)
-
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)
-
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)
-
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)
-
66.Petković, GiorgieUčestalost fetalnog alkoholnog sindroma u školske djece sjeverozapadne Hrvatske, 2012., doktorska disertacija, Medicinski fakultet, Zagreb
-
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)
-
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
-
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)
-
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)
-
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)
-
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)
-
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)
-
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)
-
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)
-
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)
-
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)
-
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)
-
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)
-
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)
-
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)
