Pregled po projektu: MOLEKULARNA CITOGENETIKA U EVALUACIJI MENTALNE RETARDACIJE NEPOZNATE ETIOLOGIJE (MB: MZOS-108-1081870-1888)
Pronađeno 11 radova
-
1.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)
-
2.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) -
3.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)
-
4.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)
-
5.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)
-
6.Weise, A; Kosyakova, N; Mrasek, K; Ewers, E; Bacino, C; Patel, A; Cheung, SW; Cai, WW; Senger, G; Melo, JB et al.Detailed characterization of small supernumerary marker chromosomes reveals breakpoint hot spots and narrows down the critical regions of clinical impact. // Medizinische Genetik / T. Grimm ; K. Zerres ; B. Horsthemke ; M. Speicher (ur.).
Heidelberg: Springer, 2010. str. 141-141 (poster, međunarodna recenzija, sažetak, znanstveni) -
7.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) -
8.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) -
9.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 -
10.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) -
11.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)
