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Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).
Kurzawski G, Suchy J, Lener M, Kłujszo-Grabowska E, Kładny J, Safranow K, Jakubowska K, Jakubowska A, Huzarski T, Byrski T, Debniak T, Cybulski C, Gronwald J, Oszurek O, Oszutowska D, Kowalska E, Góźdź S, Niepsuj S, Słomski R, Pławski A, Łacka-Wojciechowska A, Rozmiarek A, Fiszer-Maliszewska Ł, Bebenek M, Sorokin D, Sasiadek MM, Stembalska A, Grzebieniak Z, Kilar E, Stawicka M, Godlewski D, Richter P, Brozek I, Wysocka B, Limon J, Jawień A, Banaszkiewicz Z, Janiszewska H, Kowalczyk J, Czudowska D, Scott RJ, Lubiński J. Kurzawski G, et al. Among authors: jakubowska k, jakubowska a. Clin Genet. 2006 Jan;69(1):40-7. doi: 10.1111/j.1399-0004.2006.00550.x. Clin Genet. 2006. PMID: 16451135
Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer.
Górski B, Byrski T, Huzarski T, Jakubowska A, Menkiszak J, Gronwald J, Pluzańska A, Bebenek M, Fischer-Maliszewska L, Grzybowska E, Narod SA, Lubiński J. Górski B, et al. Among authors: jakubowska a. Am J Hum Genet. 2000 Jun;66(6):1963-8. doi: 10.1086/302922. Epub 2000 Apr 28. Am J Hum Genet. 2000. PMID: 10788334 Free PMC article.
Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.
Kurzawski G, Suchy J, Kładny J, Safranow K, Jakubowska A, Elsakov P, Kucinskas V, Gardovski J, Irmejs A, Sibul H, Huzarski T, Byrski T, Debniak T, Cybulski C, Gronwald J, Oszurek O, Clark J, Góźdź S, Niepsuj S, Słomski R, Pławski A, Łacka-Wojciechowska A, Rozmiarek A, Fiszer-Maliszewska Ł, Bebenek M, Sorokin D, Stawicka M, Godlewski D, Richter P, Brozek I, Wysocka B, Jawień A, Banaszkiewicz Z, Kowalczyk J, Czudowska D, Goretzki PE, Moeslein G, Lubiński J. Kurzawski G, et al. Among authors: jakubowska a. J Med Genet. 2002 Oct;39(10):E65. doi: 10.1136/jmg.39.10.e65. J Med Genet. 2002. PMID: 12362047 Free PMC article. No abstract available.
A large germline deletion in the Chek2 kinase gene is associated with an increased risk of prostate cancer.
Cybulski C, Wokołorczyk D, Huzarski T, Byrski T, Gronwald J, Górski B, Debniak T, Masojć B, Jakubowska A, Gliniewicz B, Sikorski A, Stawicka M, Godlewski D, Kwias Z, Antczak A, Krajka K, Lauer W, Sosnowski M, Sikorska-Radek P, Bar K, Klijer R, Zdrojowy R, Małkiewicz B, Borkowski A, Borkowski T, Szwiec M, Narod SA, Lubiński J. Cybulski C, et al. Among authors: jakubowska a. J Med Genet. 2006 Nov;43(11):863-6. doi: 10.1136/jmg.2006.044974. J Med Genet. 2006. PMID: 17085682 Free PMC article.
531 results