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A MUTYH germline mutation is associated with small intestinal neuroendocrine tumors.
Dumanski JP, Rasi C, Björklund P, Davies H, Ali AS, Grönberg M, Welin S, Sorbye H, Grønbæk H, Cunningham JL, Forsberg LA, Lind L, Ingelsson E, Stålberg P, Hellman P, Tiensuu Janson E. Dumanski JP, et al. Endocr Relat Cancer. 2017 Aug;24(8):427-443. doi: 10.1530/ERC-17-0196. Epub 2017 Jun 20. Endocr Relat Cancer. 2017. PMID: 28634180 Free PMC article.
Recurrent genomic alterations in benign and malignant pheochromocytomas and paragangliomas revealed by whole-genome array comparative genomic hybridization analysis.
Sandgren J, Diaz de Ståhl T, Andersson R, Menzel U, Piotrowski A, Nord H, Bäckdahl M, Kiss NB, Brauckhoff M, Komorowski J, Dralle H, Hessman O, Larsson C, Akerström G, Bruder C, Dumanski JP, Westin G. Sandgren J, et al. Among authors: dumanski jp. Endocr Relat Cancer. 2010 Jun 3;17(3):561-79. doi: 10.1677/ERC-09-0310. Print 2010 Sep. Endocr Relat Cancer. 2010. PMID: 20410162
Age-related somatic structural changes in the nuclear genome of human blood cells.
Forsberg LA, Rasi C, Razzaghian HR, Pakalapati G, Waite L, Thilbeault KS, Ronowicz A, Wineinger NE, Tiwari HK, Boomsma D, Westerman MP, Harris JR, Lyle R, Essand M, Eriksson F, Assimes TL, Iribarren C, Strachan E, O'Hanlon TP, Rider LG, Miller FW, Giedraitis V, Lannfelt L, Ingelsson M, Piotrowski A, Pedersen NL, Absher D, Dumanski JP. Forsberg LA, et al. Among authors: dumanski jp. Am J Hum Genet. 2012 Feb 10;90(2):217-28. doi: 10.1016/j.ajhg.2011.12.009. Epub 2012 Feb 2. Am J Hum Genet. 2012. PMID: 22305530 Free PMC article.
Post-zygotic and inter-individual structural genetic variation in a presumptive enhancer element of the locus between the IL10Rβ and IFNAR1 genes.
Razzaghian HR, Forsberg LA, Prakash KR, Przerada S, Paprocka H, Zywicka A, Westerman MP, Pedersen NL, O'Hanlon TP, Rider LG, Miller FW, Srutek E, Jankowski M, Zegarski W, Piotrowski A, Absher D, Dumanski JP. Razzaghian HR, et al. Among authors: dumanski jp. PLoS One. 2013 Sep 4;8(9):e67752. doi: 10.1371/journal.pone.0067752. eCollection 2013. PLoS One. 2013. PMID: 24023707 Free PMC article.
Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer.
Forsberg LA, Rasi C, Malmqvist N, Davies H, Pasupulati S, Pakalapati G, Sandgren J, Diaz de Ståhl T, Zaghlool A, Giedraitis V, Lannfelt L, Score J, Cross NC, Absher D, Janson ET, Lindgren CM, Morris AP, Ingelsson E, Lind L, Dumanski JP. Forsberg LA, et al. Among authors: dumanski jp. Nat Genet. 2014 Jun;46(6):624-8. doi: 10.1038/ng.2966. Epub 2014 Apr 28. Nat Genet. 2014. PMID: 24777449 Free PMC article.
Mutagenesis. Smoking is associated with mosaic loss of chromosome Y.
Dumanski JP, Rasi C, Lönn M, Davies H, Ingelsson M, Giedraitis V, Lannfelt L, Magnusson PK, Lindgren CM, Morris AP, Cesarini D, Johannesson M, Tiensuu Janson E, Lind L, Pedersen NL, Ingelsson E, Forsberg LA. Dumanski JP, et al. Science. 2015 Jan 2;347(6217):81-3. doi: 10.1126/science.1262092. Epub 2014 Dec 4. Science. 2015. PMID: 25477213 Free PMC article.
157 results