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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.
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.
Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism.
Yap P, Riley LG, Kakadia PM, Bohlander SK, Curran B, Rahimi MJ, Alburaiky S, Hayes I, Oppermann H, Print C, Cooper ST, Le Quesne Stabej P. Yap P, et al. Among authors: bohlander sk. Eur J Hum Genet. 2024 Jan;32(1):125-129. doi: 10.1038/s41431-023-01484-9. Epub 2023 Nov 6. Eur J Hum Genet. 2024. PMID: 37926713 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.
196 results