Pregled po CROSBI profilu: Ingeborg Barišić (CROSBI Profil: 13659, MBZ: 168183)
Pronađeno 523 radova
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151.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) -
152.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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153.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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154.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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155.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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156.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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157.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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158.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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159.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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160.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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161.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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162.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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163.Emeryeve osnove medicinske genetike (14. izdanje) / Bulić Jakuš, Floriana ; Barišić, Ingeborg (ur.). Zagreb: Medicinska naklada, 2011 (Udžbenik)
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164.Petković, Iskra; Barišić, Ingeborg; Petković, GiorgieFISH screening for subtelomeric rearrangements revealed 4 different chromosomal anomalies in 55 children with intellectual deficit // Chromosome Research / Macgregor, Herbert (ur.).
Dordrecht: Springer, 2011. str. S48-S49 (poster, međunarodna recenzija, sažetak, znanstveni) -
165.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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166.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) -
167.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) -
168.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) -
169.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) -
170.Morožin Pohovski, Leona; Ciglar, Željka; Barišić, IngeborgDe novo mikrodelecija 4p16.3 u bolesnice s blagim fenotipom // Paediatria Croatica. Supplement 2 / Barišić, Ingeborg (ur.).
Zagreb: Denona, 2010. str. 81-81 (poster, domaća recenzija, sažetak, znanstveni) -
171.Sansović, Ivona; Barišić, IngeborgMLPA( multiplex ligation probe amplification) metoda u otkrivanju delecije gena MECP2-prikaz slučaja // Paediatria Croatica. Supplement 2 / Barišić, Ingeborg (ur.).
Zagreb: Denona, 2010. str. 82-82 (poster, domaća recenzija, sažetak, znanstveni) -
172.De Souza, E.; Morris, J.K.; EUROCAT Working Group; Barišić, IngeborgCase-control analysis of paternal age and trisomic anomalies // Archives of disease in childhood, 95 (2010), 11; 893-897 doi:10.1136/adc.2009.176438 (međunarodna recenzija, članak, znanstveni)
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173.Burton, B.K.; Guffon, N.; Roberts, J.; van der Ploeg, A.T.; Jones, S.A.; on behalf of the HOS investigators: Guelbert, N. ...; Barić, Ivo; Barišić, Ingeborg; ...; Ibrahim, J.Home treatment with intravenous enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II - data from the Hunter Outcome Survey // Molecular genetics and metabolism, 101 (2010), 2/3; 123-129 doi:10.1016/j.ymgme.2010.06.011 (međunarodna recenzija, članak, znanstveni)
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174.Mendelsohn, N.J.; Harmatz, P.; Bodamer, O.; Burton, B.K.; Giugliani, R.; Jones, S.A.; Lampe, C.; Malm, G.; Steiner, R.D.; Parini, R. et al.Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome) : data from the Hunter Outcome Survey // Genetics in medicine, 12 (2010), 12; 816-822 doi:10.1097/GIM.0b013e3181f6e74d (međunarodna recenzija, članak, znanstveni)
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175.(EUROCAT Antiepileptic Study Working Group) Jentink, J.; Dolk, H.; Loane, M. A.; Morris, J. K.; Wellesley, D.; Garne, E.; de Jong-van den Berg, L.Intrauterine exposure to carbamazepine and specific congenital malformations: systematic review and case-control study // BMJ. British medical journal, 341 (2010), c6581, 7 doi:10.1136/bmj.c6581 (međunarodna recenzija, pregledni rad, znanstveni)
