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Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group.
Morak M, Pineda M, Martins A, Gaildrat P, Tubeuf H, Drouet A, Gómez C, Dámaso E, Schaefer K, Steinke-Lange V, Koehler U, Laner A, Hauchard J, Chauris K, Holinski-Feder E, Capellá G. Morak M, et al. Eur J Hum Genet. 2022 Sep;30(9):1051-1059. doi: 10.1038/s41431-022-01106-w. Epub 2022 Jun 9. Eur J Hum Genet. 2022. PMID: 35676339 Free PMC article.
No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients.
Steinke V, Rahner N, Morak M, Keller G, Schackert HK, Görgens H, Schmiegel W, Royer-Pokora B, Dietmaier W, Kloor M, Engel C, Propping P, Aretz S; German HNPCC Consortium. Steinke V, et al. Among authors: morak m. Eur J Hum Genet. 2008 May;16(5):587-92. doi: 10.1038/ejhg.2008.26. Epub 2008 Feb 27. Eur J Hum Genet. 2008. PMID: 18301448
Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC.
Morak M, Schackert HK, Rahner N, Betz B, Ebert M, Walldorf C, Royer-Pokora B, Schulmann K, von Knebel-Doeberitz M, Dietmaier W, Keller G, Kerker B, Leitner G, Holinski-Feder E. Morak M, et al. Eur J Hum Genet. 2008 Jul;16(7):804-11. doi: 10.1038/ejhg.2008.25. Epub 2008 Feb 27. Eur J Hum Genet. 2008. PMID: 18301449
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies.
Hardt K, Heick SB, Betz B, Goecke T, Yazdanparast H, Küppers R, Servan K, Steinke V, Rahner N, Morak M, Holinski-Feder E, Engel C, Möslein G, Schackert HK, von Knebel Doeberitz M, Pox C; Peter Propping; German HNPCC consortium; Hegemann JH, Royer-Pokora B. Hardt K, et al. Among authors: morak m. Fam Cancer. 2011 Jun;10(2):273-84. doi: 10.1007/s10689-011-9431-4. Fam Cancer. 2011. PMID: 21404117
An American founder mutation in MLH1.
Tomsic J, Liyanarachchi S, Hampel H, Morak M, Thomas BC, Raymond VM, Chittenden A, Schackert HK, Gruber SB, Syngal S, Viel A, Holinski-Feder E, Thibodeau SN, de la Chapelle A. Tomsic J, et al. Among authors: morak m. Int J Cancer. 2012 May 1;130(9):2088-95. doi: 10.1002/ijc.26233. Epub 2011 Aug 30. Int J Cancer. 2012. PMID: 21671475 Free PMC article.
97 results