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Autoimmune lymphoproliferative syndrome identified through reverse phenotyping.
Kocheva S, Gjorgijevska M, Vujovic M, Martinova K, Antevska-Trajkova Z, Jovanovska A, Stavrikj K, Plaseska-Karanfilska D. Kocheva S, et al. Cent Eur J Immunol. 2022;47(2):179-182. doi: 10.5114/ceji.2022.118079. Epub 2022 Jul 15. Cent Eur J Immunol. 2022. PMID: 36751388 Free PMC article.
Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis.
Shu X, Wu L, Khankari NK, Shu XO, Wang TJ, Michailidou K, Bolla MK, Wang Q, Dennis J, Milne RL, Schmidt MK, Pharoah PDP, Andrulis IL, Hunter DJ, Simard J, Easton DF, Zheng W; Breast Cancer Association Consortium. Shu X, et al. Int J Epidemiol. 2019 Jun 1;48(3):795-806. doi: 10.1093/ije/dyy201. Int J Epidemiol. 2019. PMID: 30277539 Free PMC article.
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries.
Laitman Y, Friebel TM, Yannoukakos D, Fostira F, Konstantopoulou I, Figlioli G, Bonanni B, Manoukian S, Zuradelli M, Tondini C, Pasini B, Peterlongo P, Plaseska-Karanfilska D, Jakimovska M, Majidzadeh K, Zarinfam S, Loizidou MA, Hadjisavvas A, Michailidou K, Kyriacou K, Behar DM, Molho RB, Ganz P, James P, Parsons MT, Sallam A, Olopade OI, Seth A, Chenevix-Trench G, Leslie G, McGuffog L, Marafie MJ, Megarbane A, Al-Mulla F, Rebbeck TR, Friedman E. Laitman Y, et al. Hum Mutat. 2019 Nov;40(11):e1-e23. doi: 10.1002/humu.23842. Epub 2019 Jul 26. Hum Mutat. 2019. PMID: 31209999
A new familial mutation (R133G) in the SRY gene.
Plaseska-Karanfilska D, Noveski P, Kuzevska K, Basheska N, Kocova M, Efremov GD. Plaseska-Karanfilska D, et al. Clin Genet. 2007 May;71(5):480-2. doi: 10.1111/j.1399-0004.2007.00796.x. Clin Genet. 2007. PMID: 17489856 No abstract available.
117 results