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198 results

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Page 1
Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.
Garbes L, Kim K, Rieß A, Hoyer-Kuhn H, Beleggia F, Bevot A, Kim MJ, Huh YH, Kweon HS, Savarirayan R, Amor D, Kakadia PM, Lindig T, Kagan KO, Becker J, Boyadjiev SA, Wollnik B, Semler O, Bohlander SK, Kim J, Netzer C. Garbes L, et al. Among authors: bohlander sk. Am J Hum Genet. 2015 Mar 5;96(3):432-9. doi: 10.1016/j.ajhg.2015.01.002. Epub 2015 Feb 12. Am J Hum Genet. 2015. PMID: 25683121 Free PMC article.
Rapid and sensitive screening for CEBPA mutations in acute myeloid leukaemia.
Benthaus T, Schneider F, Mellert G, Zellmeier E, Schneider S, Kakadia PM, Hiddemann W, Bohlander SK, Feuring-Buske M, Braess J, Spiekermann K, Dufour A. Benthaus T, et al. Among authors: bohlander sk. Br J Haematol. 2008 Oct;143(2):230-9. doi: 10.1111/j.1365-2141.2008.07328.x. Epub 2008 Aug 24. Br J Haematol. 2008. PMID: 18752591 Free article.
A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.
Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J, Iden S, Wirth B, Eysel P, Koerber F, Schoenau E, Bohlander SK, Wollnik B, Netzer C. Semler O, et al. Among authors: bohlander sk. Am J Hum Genet. 2012 Aug 10;91(2):349-57. doi: 10.1016/j.ajhg.2012.06.011. Epub 2012 Aug 2. Am J Hum Genet. 2012. PMID: 22863195 Free PMC article.
DNA Repair and Chromosomal Translocations.
Bohlander SK, Kakadia PM. Bohlander SK, et al. Recent Results Cancer Res. 2015;200:1-37. doi: 10.1007/978-3-319-20291-4_1. Recent Results Cancer Res. 2015. PMID: 26376870 Review.
An ETV6-ABL1 fusion in a patient with chronic myeloproliferative neoplasm: Initial response to Imatinib followed by rapid transformation into ALL.
Kakadia PM, Schmidmaier R, Völkl A, Schneider I, Huk N, Schneider S, Panzner G, Neidel U, Fritz B, Spiekermann K, Bohlander SK. Kakadia PM, et al. Among authors: bohlander sk. Leuk Res Rep. 2016 Oct 14;6:50-54. doi: 10.1016/j.lrr.2016.09.002. eCollection 2016. Leuk Res Rep. 2016. PMID: 27812500 Free PMC article.
A fluorescence in situ hybridization-based screen allows rapid detection of adverse cytogenetic alterations in patients with acute myeloid leukemia.
Sandhöfer N, Metzeler KH, Kakadia PM, Pasalic Z, Hiddemann W, Neusser M, Steinlein O, Fiegl M, Subklewe M, Spiekermann K, Bohlander SK, Schneider S, Braess J. Sandhöfer N, et al. Among authors: bohlander sk. Genes Chromosomes Cancer. 2017 Aug;56(8):632-638. doi: 10.1002/gcc.22466. Epub 2017 May 19. Genes Chromosomes Cancer. 2017. PMID: 28420034
198 results