Pregled po CROSBI profilu: Lukrecija Brečević (CROSBI Profil: 20332, MBZ: 82115)
Pronađeno 40 radova
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1.Rinčić, Martina; Kopić, Janja; Jakšić, Boris; Krsnik, Željka; Borovečki, Fran; Brečević, LukrecijaEvolutionary novel genes in neurodevelopmental disorders // MNS Full Proceedings
Dubrovnik, Hrvatska, 2022. str. 159-159 (poster, međunarodna recenzija, sažetak, znanstveni) -
2.Rinčić, Martina; Radoš, Milan; Krsnik, Zeljka; Liehr, Thomas; Brecevic, LukrecijaMicrodeletion of 7p21.3 and 12p13.32 in a female patient with severe microcephaly // 6th Belgian Brain Congress : abstracts ; u: Frontiers
Mons, Belgija, 2016. (poster, međunarodna recenzija, sažetak, ostalo) -
3.Rincic, Martina; Rados, Milan; Krsnik, Zeljka; Gotovac, Kristina; Borovecki, Fran; Liehr, Thomas; Brecevic, LukrecijaComplex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex // Molecular Cytogenetics, 9 (2016), 19-- doi:10.1186/s13039-016-0221-4 (međunarodna recenzija, članak, znanstveni)
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4.Rincic, Martina; Rados, Milan; Krsnik, Zeljka; Gotovac, Kristina; Nelle H; Liehr, Thomas; Borovecki, Fran; Brecevic, LukrecijaComplex intrachromosomal rearrangement in 1q leading to 1q32.2 microdeletion: a potential role of SRGAP2 in the gyrification of cerebral cortex // 5th Croatian Neuroscience Congress
Split, Hrvatska, 2015. (poster, domaća recenzija, sažetak, znanstveni) -
5.Rinčić Martina; Krsnik Željka; Gotovac Kristina; Liehr Thomas; Borovecki Fran; Brecevic LukrecijaCustomized high resolution arrayCGH for neurodevelopmental disorders: our experience // 5th Croatian Neuroscience Congress
Split, Hrvatska, 2015. (poster, domaća recenzija, sažetak, znanstveni) -
6.Rinčić Martina; Krsnik Željka; Sedmak Goran; Ahmed B. Hamid; Galić Ivan; Borovečki Fran; Liehr Thomas; Brečević LukerecijaNeurodevelopmental genes in new microdeletion/microduplication region in chromosome 1p21 // 5th Croatian Neuroscience Congress
Split, Hrvatska, 2015. (poster, domaća recenzija, sažetak, znanstveni) -
7.Brečević, Lukrecija; Rinčić, Martina; Krsnik, Željka; Sedmak, Goran; Hamid, Ahmed B.; Kosyakova, Nadezda; Galić, Ivan; Liehr, Thomas; Borovečki, FranAssociation of new deletion/duplication region at chromosome 1p21 with intellectual disability, severe speech deficit and autism spectrum disorder-like behavior: an all-in approach to solving the DPYD enigma // Translational Neuroscience, 6 (2015), 1; 59-86 doi:10.1515/tnsci-2015-0007 (međunarodna recenzija, članak, znanstveni)
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8.Škrlec, Ivana; Wagner, Jasenka; Merkeš, Martina; Pušeljić, Silvija; Heffer, Marija; Brečević, Lukrecija; Liehr, ThomasDe novo case of 3p deletion syndrome // Chromosome Research
Dublin, Irska, 2013. str. S47-S47 (poster, međunarodna recenzija, sažetak, stručni) -
9.Guilherme RS; Klein E; Hamid AB, Bhatt S; Volleth M; Polityko A; Kulpanovich A; Dufke A; , AlbrechtB; Morlot S; Brečevic Lukrecija; Petersen MB10, Manolakos E10, Kosyakova N1, Liehr T1*HUMAN RING CHROMOSOMES – NEW INSIGHTS FOR THEIR CLINICAL SIGNIFICANCE // Balkan Journal of Medical Genetics, 16 (2013), 1; 13-19 (međunarodna recenzija, članak, znanstveni)
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10.Merkaš, Martina; Gotovac, Kristina; Brečević, Lukrecija; Borovečki, Fran; Liehr, ThomasEvaluation of chromosomal mosaicism by aCGH and MLPA:molecular characterization of mosaic ring chromosome 22. // XII Russian Federation Congress “Modern technologies in pediatrics and pediatric surgery”, Moscow, Russia, 2013
Moskva, Ruska Federacija, 2013. (poster, međunarodna recenzija, sažetak, znanstveni) -
11.Kosyakova, N.; ...; Merkaš, Martina; Brečević, Lukrecija; ...; Ergul, E.Heteromorphic variants of chromosome 9 // Molecular cytogenetics, 6 (2013), 14-1 doi:10.1186/1755-8166-6-14 (međunarodna recenzija, članak, znanstveni)
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12.Kosztolányi, Gyorgy; Brečević, Lukrecija; Bajnòczky, K; Schinzel, Albert; Riegel, MariluceMosaic supernumerary ring chromosome 1 in a three-generational family : 10-year follow-up report // European journal of medical genetics, 54 (2011), 2; 152-156 doi:10.1016/j.ejmg.2010.11.015 (međunarodna recenzija, članak, znanstveni)
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13.Liehr, Thomas; Karamysheva, Tatyana; Merkas, Martina; Brecevic, Lukrecija; . Hamid, Ahmed; Ewers, Elisabeth; Mrasek, Kristin; Nadezda, Kosyakova; Weise, AnjaSomatic mosaicism in cases with small supernumerary marker chromosomes // Current genomics, 11 (2010), 6; 432-439 doi:10.2174/138920210793176029 (međunarodna recenzija, članak, znanstveni)
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14.Wagner, J; Dorner, S; Stipoljev, F; Skrlec, I; Lauc, G; Weise, A; Mrasek, K; Liehr, T; Brecevic, LPartial monosomy 4q and partial trisomy 13q: phenotype and molecular mapping of the breakpoints // Chromosome Research / Herbert C. Macgregor (ur.).
Stockholm, Švedska: Springer, 2009. str. S32-S32 (poster, međunarodna recenzija, sažetak, znanstveni) -
15.Liehr, Thomas; Ewers, Elisabeth; Mrasek, Kristin; Mkrtchyan, Hasmik; Kosyakova, Nadezda; Brecevic, Lukrecija; Wagner, Jasenka; Weise, AnjaLow grade mosaicism in marker chromosomes // Chromosome Research / Herbert C. Macgregor (ur.).
Stockholm, Švedska: Springer, 2009. str. S25-S26 (pozvano predavanje, međunarodna recenzija, sažetak, znanstveni) -
16.Liehr, Thomas; Mrasek, Kristin; Kosyakova, Nadezda; Mkrtcyan, Hasmik; Melo, Joana; Polityko, Anna; Brečević, LukrecijaMultiplex FISH and Spectral Karyotyping // Fluorescence in situ hybridization (FISH)- Application Guide / Liehr, Thomas (ur.).
Berlin : Heidelberg: Springer, 2009. str. 175-181 -
17.Brečević, L; Michel, S; Starke, H; Müller, K; Kosyakova, N; Mrasek, K; Weise, A; Liehr TMOLECULAR CYTOGENETIC CHARACTERIZATION OF SMALL SUPERNUMERARY MARKER CHROMOSOMES (sSMC) // Knjiga sažetaka 4. hrvatskog kongresa iz humane genetike u: Paediatria Croatica / Barišić, Ingeborg (ur.).
Zagreb: Klinika za dječje bolesti Zagreb, 2007. (predavanje, domaća recenzija, sažetak, znanstveni) -
18.Liehr, T.; Trifonov V.; Polityko, A.; Brečević, Lukrecija; Mrasek, K.; Weise, A.; Ewers, E.; Reich, D.; Iourov, I.; Mkrtchyan, H. et al.Characterization of small supernumerary marker chromosomes (sSMC) by a simple molecular and molecular cytogenetics approach // Balkan journal of medical genetics, 10 (2007), 2; 33-38 doi:10.2478/v10034-007-0006-5 (međunarodna recenzija, članak, znanstveni)
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19.Herak Bosnar, Maja; de Gunzburg, J.; Bago, Ružica; Brečević, Lukrecija; Weber, Igor; Pavelić, JasminkaNM23/NDPK Subunits in Head and Neck Tumor Cells : Where do they go? // Proceedings of Abstracts of the 12th World Congress on Advances in Oncology and 10th International Symposium of Molecular Medicine and Cancer Chemoprevention Symposium ; u: International Journal of Molecular Medicine. Supplement 20 (2007) (S) / Spandidos, D.A. (ur.).
Heraklion, 2007. str. S44-S44 (pozvano predavanje, međunarodna recenzija, sažetak, znanstveni) -
20.Brečević, Lukrecija; Michel, S.; Starke, H.; Muller, K.; Kosyakova, N.; Mrasek, K.; Weise, A.; Liehr, T.Multicolor FISH used for the characterization of small supernumerary marker chromosomes (sSMC) in commercially available immortalized cell lines // Cytogenetic & Genome Research, 114 (2006), 3-4; 319-324 (međunarodna recenzija, članak, znanstveni)
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21.Crnek-Kunstelj, Vesna; Brečević, LukrecijaPoglavlje 1. Pregledno o stanicama i istraživanju stanica u: Stanica-molekularni pristup, treće izdanje, 2004. (podatak o recenziji nije dostupan, prijevod).
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22.Brecevic, Lukrecija;Molekularno citogenetski pristup analizi aneuploidija i segmentalnih aneusomija. // Prvi Hrvatski Simpozij o Sindromu Down. Split, 14.-15.svibnja 2004. / Culic, Vida. (ur.).
Split, 2004. (pozvano predavanje, domaća recenzija, sažetak, pregledni) -
23.Herak Bosnar, Maja; de Gunzburg, Jean; Bago, Ružica; Brečević, Lukrecija; Weber, Igor; Pavelić, JasminkaSubcellular localization of A and B Nm23/NDPK subunits // Experimental Cell Research, 298 (2004), 1; 275-284 (međunarodna recenzija, članak, znanstveni)
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24.Heller, Anita; Brecevic, Lukrecija; Glaser, Melanie; Loncarevic, Ivan; Gebhart, Erich; Claussen, Uwe; Liehr, ThomasTrisomy 8 as the sole chromosomal aberration in myelocytic malignancies: a comprehensive molecular cytogenetic analysis reveals no cryptic aberrations // Cancer Genetics and Cytogenetics, 146 (2003), 2; 81-83 (međunarodna recenzija, članak, znanstveni)
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25.Verdorfer, I.; Brečević, Lukrecija; Saul, W.; Schenker, B.; Kirsch, M.; Trautmann, U.; Helm, G.; Gramatzki, M.; Gebhart, E.Comparative genomic hybridization-aided unraveling of complex karyotypes in human hematopoietic neoplasias // Cancer genetics and cytogenetics, 124 (2001), 1; 1-6 doi:10.1016/S0165-4608(00)00287-9 (međunarodna recenzija, članak, znanstveni)
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26.Brecevic L; Verdorfer I; Saul W; Trautmann U; Gebhart EThe cytogenetic view of standard comparative genomic hybridization (CGH): Deletions of 20q in human leukemia as a measure of the sensitivity of the technique // Anticancer research, 21 (2001), 89-92 (podatak o recenziji nije dostupan, članak, ostalo)
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27.Gebhart, E.; Verdorfer, I.; Saul, W.; Trautmann, U.; Brečević, LukrecijaDelimiting the use of comparative genomic hybridization in human myeloid neoplastic disorders // International journal of oncology, 16 (2000), 6; 1099-1105 doi:10.3892/ijo.16.6.1099 (međunarodna recenzija, članak, znanstveni)
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28.Brečević, Lukrecija; Basaran, Seher; Dutly, Fabrizio; Rothlisberger, Benno; Schinzel, Albert.Tandem triplication of chromosome 13q14 with inverted interstitial segment in a 4 year old girl. // Journal of Medical Genetics, 37 (2000), 4; 964-967. (međunarodna recenzija, članak, znanstveni)
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29.Kotzot, D.; Martinez, M.J.; Bagci, G.; Basaran, S.; Baumer, A.; Binkert, F.; Brečević, Lukrecija; Castellan, C.; Chrzanowska, K.; Dutly, F. et al.Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications. // Journal of Medical Genetics, 37 (2000), 4; 281-286. (međunarodna recenzija, članak, znanstveni)
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30.Frascella, E.; Lenzini, E.; Schafer, B.W.; Brečević, Lukrecija; Dorigo, E.; Toffolatti, L.; Nanni, P.; De Giovanni, C.; Rosolen, A.Concomitant amplification and expression of PAX7-FKHR and MYCN in a human rhabdomyosarcoma cell line carrying a cryptic t(1 ; 13). // Cancer Genetics and Cytogenetics, 121 (2000), 2; 139-145 (međunarodna recenzija, članak, znanstveni)
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31.Utkus, A.; Sorokina, I.; Kucinskas, V.; Röthlisberger, B.; Balmer, D.; Brečević, Lukrecija; Schinzel, A.Duplication of segment 1p21 following paternal insertional translocation, ins(6 ; 1)(q25 ; p13.3p22.1) // Journal of medical genetics, 36 (1999), 1; 73-76 doi:10.1136/jmg.36.1.73 (međunarodna recenzija, članak, znanstveni)
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32.Riegel M; Castellan C; Balmer D; Brecevic L; Schinzel A.Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes // AMERICAN JOURNAL OF MEDICAL GENETICS, 82 (1999), 3; 249-253 (međunarodna recenzija, članak, znanstveni)
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33.Röthlisberger, B.; Kotzot, D.; Brečević, Lukrecija; Koehler, M.; Balmer, D.; Binkert, F.; Schinzel, A.Recombinant balanced and unbalanced translocations as a consequence of a balanced complex chromosomal rearrangement involving eight breakpoints in four chromosomes // European journal of human genetics, 7 (1999), 8; 873-883 (međunarodna recenzija, članak, znanstveni)
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34.Čekada, Senija; Kilvain, S.; Brajenović-Milić, Bojana; Brečević, Lukrecija, Kirinčić-Paučić, Ela; Franulović J.Partial trisomy 13q22-qter and monosomy 18q21-qter as a result of familial translocation // Acta Paediatrica (Oslo), 88 (1999), 6; 675-678 (međunarodna recenzija, članak, znanstveni)
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35.Fokstuen, S.; Arbenz, U.; Artan, S.; Dutly, F.; Bauersfeld, U.; Brečević, Lukrecija; Fasnacht, M.; Röthlisberger, B.; Schinzel, A.22q11.2 deletions in a series of patients with non-selective congenital heart defects: incidence, type of defects and parental origin // Clinical genetics, 53 (1998), 1; 63-69 (podatak o recenziji nije dostupan, članak, ostalo)
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36.Chrzanowska, KH.; Krajewska-Walasek, M.; Kuś, J.; Michałkiewicz, J.; Maziarka, D.; Wolski, J.K.; Brečević, Lukrecija; Madaliński, K.Kabuki (Niikawa-Kuroki) syndrome associated with immunodeficiency // Clinical genetics, 53 (1998), 4; 308-312 doi:10.1111/j.1399-0004.1998.tb02702.x (međunarodna recenzija, članak, znanstveni)
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37.Schinzel, A.; Braegger, C.P.; Brečević, Lukrecija; Dutly, F.; Binkert, F.Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: further evidence that the piebald trait maps to proximal 4q12 // Journal of medical genetics, 34 (1997), 8; 692-695 doi:10.1136/jmg.34.8.692 (međunarodna recenzija, članak, znanstveni)
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38.Schinzel, A.; Kotzot, D.; Brečević, Lukrecija; Robinson, W.P.; Dutly, F.; Dauwerse, H.; Binkert, F.; Baumer, A.; Ausserer, B.Trisomy first, translocation second, uniparental disomy and partial trisomy third: A new mechanism for complex chromosomal aneuploidy // European journal of human genetics, 5 (1997), 5; 308-314 (podatak o recenziji nije dostupan, članak, ostalo)
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39.Schinzel, A.; Brečević, Lukrecija; Dutly, F.; Baumer, A.; Binkert, F.; Largo, RH.Multiple congenital anomalies including the Rieger eye malformation in a boy with interstitial deletion of (4)(q25 -> q27) secondary to a balanced insertion in his normal father: evidence for haplotype insufficiency causing the Rieger malformation // Journal of medical genetics, 34 (1997), 8; 1012-1014 doi:10.1136/jmg.34.12.1012 (podatak o recenziji nije dostupan, članak, ostalo)
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40.Borovecki, Fran; Brecevic, Lukrecija; Gotovac Jerčić, Kristina; Rincic, MartinaGenetic diagnostics of intellectual disability disorder, autism spectrum disorder and epilepsy
