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Characterisation of dic(9;20)(p11-13;q11) in childhood B-cell precursor acute lymphoblastic leukaemia by tiling resolution array-based comparative genomic hybridisation reveals clustered breakpoints at 9p13.2 and 20q11.2.
Schoumans J, Johansson B, Corcoran M, Kuchinskaya E, Golovleva I, Grandér D, Forestier E, Staaf J, Borg A, Gustafsson B, Blennow E, Nordgren A. Schoumans J, et al. Among authors: kuchinskaya e. Br J Haematol. 2006 Nov;135(4):492-9. doi: 10.1111/j.1365-2141.2006.06328.x. Epub 2006 Sep 26. Br J Haematol. 2006. PMID: 16999846 Free article.
Tiling-resolution array-CGH reveals the pattern of DNA copy number alterations in acute lymphoblastic leukemia with 21q amplification: the result of telomere dysfunction and breakage/fusion/breakage cycles?
Kuchinskaya E, Nordgren A, Heyman M, Schoumans J, Corcoran M, Staaf J, Borg A, Söderhäll S, Grandér D, Nordenskjöld M, Blennow E. Kuchinskaya E, et al. Leukemia. 2007 Jun;21(6):1327-30. doi: 10.1038/sj.leu.2404628. Epub 2007 Feb 22. Leukemia. 2007. PMID: 17315016 No abstract available.
Interphase fluorescent in situ hybridization deletion analysis of the 9p21 region and prognosis in childhood acute lymphoblastic leukaemia (ALL): results from a prospective analysis of 519 Nordic patients treated according to the NOPHO-ALL 2000 protocol.
Kuchinskaya E, Heyman M, Nordgren A, Söderhäll S, Forestier E, Wehner P, Vettenranta K, Jonsson O, Wesenberg F, Sahlén S, Nordenskjöld M, Blennow E. Kuchinskaya E, et al. Br J Haematol. 2011 Mar;152(5):615-22. doi: 10.1111/j.1365-2141.2010.08532.x. Epub 2011 Jan 17. Br J Haematol. 2011. PMID: 21241277 Free article.
The frequency and prognostic impact of dic(9;20)(p13.2;q11.2) in childhood B-cell precursor acute lymphoblastic leukemia: results from the NOPHO ALL-2000 trial.
Zachariadis V, Gauffin F, Kuchinskaya E, Heyman M, Schoumans J, Blennow E, Gustafsson B, Barbany G, Golovleva I, Ehrencrona H, Cavelier L, Palmqvist L, Lönnerholm G, Nordenskjöld M, Johansson B, Forestier E, Nordgren A; Nordic Society of Pediatric Hematology, Oncology (NOPHO); Swedish Cytogenetic Leukemia Study Group (SCLSG). Zachariadis V, et al. Among authors: kuchinskaya e. Leukemia. 2011 Apr;25(4):622-8. doi: 10.1038/leu.2010.318. Epub 2011 Jan 18. Leukemia. 2011. PMID: 21242996
Genome sequencing is a sensitive first-line test to diagnose individuals with intellectual disability.
Lindstrand A, Ek M, Kvarnung M, Anderlid BM, Björck E, Carlsten J, Eisfeldt J, Grigelioniene G, Gustavsson P, Hammarsjö A, Helgadóttir HT, Hellström-Pigg M, Kuchinskaya E, Lagerstedt-Robinson K, Levin LÅ, Lieden A, Lindelöf H, Malmgren H, Nilsson D, Svensson E, Paucar M, Sahlin E, Tesi B, Tham E, Winberg J, Winerdal M, Wincent J, Johansson Soller M, Pettersson M, Nordgren A. Lindstrand A, et al. Among authors: kuchinskaya e. Genet Med. 2022 Nov;24(11):2296-2307. doi: 10.1016/j.gim.2022.07.022. Epub 2022 Sep 6. Genet Med. 2022. PMID: 36066546 Free article.
Register-based and genetic studies of Prader-Willi syndrome show a high frequency of gonadal tumors and a possible mechanism for tumorigenesis through imprinting relaxation.
Maya-González C, Wessman S, Lagerstedt-Robinson K, Taylan F, Tesi B, Kuchinskaya E, McCluggage WG, Poluha A, Holm S, Nergårdh R, Díaz De Ståhl T, Höybye C, Tettamanti G, Delgado-Vega AM, Skarin Nordenvall A, Nordgren A. Maya-González C, et al. Among authors: kuchinskaya e. Front Med (Lausanne). 2023 Jul 28;10:1172565. doi: 10.3389/fmed.2023.1172565. eCollection 2023. Front Med (Lausanne). 2023. PMID: 37575996 Free PMC article.
A search for modifying genetic factors in CHEK2:c.1100delC breast cancer patients.
Wendt C, Muranen TA, Mielikäinen L, Thutkawkorapin J, Blomqvist C, Jiao X, Ehrencrona H, Tham E, Arver B, Melin B, Kuchinskaya E, Stenmark Askmalm M, Paulsson-Karlsson Y, Einbeigi Z, von Wachenfeldt Väppling A, Kalso E, Tasmuth T, Kallioniemi A, Aittomäki K, Nevanlinna H, Borg Å, Lindblom A. Wendt C, et al. Among authors: kuchinskaya e. Sci Rep. 2021 Jul 20;11(1):14763. doi: 10.1038/s41598-021-93926-x. Sci Rep. 2021. PMID: 34285278 Free PMC article.
Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders.
Zhao S, Zhang Y, Hallgrimsdottir S, Zuo Y, Li X, Batkovskyte D, Liu S, Lindelöf H, Wang S, Hammarsjö A, Yang Y, Ye Y, Wang L, Yan Z, Lin J, Yu C, Chen Z, Niu Y, Wang H, Zhao Z, Liu P, Qiu G, Posey JE, Wu Z, Lupski JR, Micule I, Anderlid BM, Voss U, Sulander D, Kuchinskaya E, Nordgren A, Nilsson O; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study; Zhang TJ, Grigelioniene G, Wu N. Zhao S, et al. Among authors: kuchinskaya e. NPJ Genom Med. 2022 Feb 15;7(1):11. doi: 10.1038/s41525-021-00273-x. NPJ Genom Med. 2022. PMID: 35169139 Free PMC article.
37 results