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Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.
Hendricks LAJ, Hoogerbrugge N, Venselaar H, Aretz S, Spier I, Legius E, Brems H, de Putter R, Claes KBM, Evans DG, Woodward ER, Genuardi M, Brugnoletti F, van Ierland Y, Dijke K, Tham E, Tesi B, Schuurs-Hoeijmakers JHM, Branchaud M, Salvador H, Jahn A, Schnaiter S, Anastasiadou VC, Brunet J, Oliveira C, Roht L, Blatnik A, Irmejs A; PTEN Study Group; Mensenkamp AR, Vos JR. Hendricks LAJ, et al. Among authors: irmejs a. Eur J Med Genet. 2022 Dec;65(12):104632. doi: 10.1016/j.ejmg.2022.104632. Epub 2022 Oct 18. Eur J Med Genet. 2022. PMID: 36270489 Free article.
Spectrum and frequency of CHEK2 variants in breast cancer affected and general population in the Baltic states region, initial results and literature review.
Pavlovica K, Irmejs A, Noukas M, Palover M, Kals M, Tonisson N, Metspalu A, Gronwald J, Lubinski J, Murmane D, Kalnina A, Loza P, Maksimenko J, Trofimovics G, Subatniece S, Daneberga Z, Miklasevics E, Gardovskis J. Pavlovica K, et al. Among authors: irmejs a. Eur J Med Genet. 2022 May;65(5):104477. doi: 10.1016/j.ejmg.2022.104477. Epub 2022 Mar 18. Eur J Med Genet. 2022. PMID: 35314380 Review.
Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS).
Hendricks LAJ, Verbeek KCJ, Schuurs-Hoeijmakers JHM, Mensenkamp AR, Brems H, de Putter R, Anastasiadou VC, Villy MC, Jahn A, Steinke-Lange V, Baldassarri M, Irmejs A, de Jong MM, Links TP, Leter EM, Bosch DGM, Høberg-Vetti H, Tveit Haavind M, Jørgensen K, Mæhle L, Blatnik A, Brunet J, Darder E, Tham E, Hoogerbrugge N, Vos JR. Hendricks LAJ, et al. Among authors: irmejs a. Cancers (Basel). 2024 Feb 27;16(5):953. doi: 10.3390/cancers16050953. Cancers (Basel). 2024. PMID: 38473316 Free PMC article.
Lynch syndrome mutations shared by the Baltic States and Poland.
Dymerska D, Kurzawski G, Suchy J, Roomere H, Toome K, Metspalu A, Janavičius R, Elsakov P, Irmejs A, Berzina D, Miklaševičs E, Gardovskis J, Rebane E, Kelve M, Kładny J, Huzarski T, Gronwald J, Dębniak T, Byrski T, Stembalska A, Surdyka D, Siołek M, Szwiec M, Banaszkiewicz Z, Wiśniowski R, Kilar E, Scott RJ, Lubiński J. Dymerska D, et al. Among authors: irmejs a. Clin Genet. 2014 Aug;86(2):190-3. doi: 10.1111/cge.12251. Epub 2013 Sep 5. Clin Genet. 2014. PMID: 24032978 No abstract available.
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: irmejs 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.
38 results