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Hemizygosity for chromosome 2q14.2-q22.1 spanning the GLI2 and PROC genes associated with growth hormone deficiency, polydactyly, deep vein thrombosis and urogenital abnormalities.
Gustavsson P, Schoumans J, Staaf J, Jönsson G, Carlsson F, Kristoffersson U, Borg A, Nordenskjöld M, Dahl N. Gustavsson P, et al. Among authors: staaf j. Clin Genet. 2006 May;69(5):441-3. doi: 10.1111/j.1399-0004.2006.00601.x. Clin Genet. 2006. PMID: 16650085 No abstract available.
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: staaf j. 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. Among authors: staaf j. Leukemia. 2007 Jun;21(6):1327-30. doi: 10.1038/sj.leu.2404628. Epub 2007 Feb 22. Leukemia. 2007. PMID: 17315016 No abstract available.
212 results