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Page 1
Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome.
Morak M, Koehler U, Schackert HK, Steinke V, Royer-Pokora B, Schulmann K, Kloor M, Höchter W, Weingart J, Keiling C, Massdorf T, Holinski-Feder E; German HNPCC consortium. Morak M, et al. Among authors: massdorf t. J Med Genet. 2011 Aug;48(8):513-9. doi: 10.1136/jmedgenet-2011-100050. Epub 2011 Jun 28. J Med Genet. 2011. PMID: 21712435 Free article.
Comprehensive analysis of the MLH1 promoter region in 480 patients with colorectal cancer and 1150 controls reveals new variants including one with a heritable constitutional MLH1 epimutation.
Morak M, Ibisler A, Keller G, Jessen E, Laner A, Gonzales-Fassrainer D, Locher M, Massdorf T, Nissen AM, Benet-Pagès A, Holinski-Feder E. Morak M, et al. Among authors: massdorf t. J Med Genet. 2018 Apr;55(4):240-248. doi: 10.1136/jmedgenet-2017-104744. Epub 2018 Feb 22. J Med Genet. 2018. PMID: 29472279
Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes.
Morak M, Schaefer K, Steinke-Lange V, Koehler U, Keinath S, Massdorf T, Mauracher B, Rahner N, Bailey J, Kling C, Haeusser T, Laner A, Holinski-Feder E. Morak M, et al. Among authors: massdorf t. Eur J Hum Genet. 2019 Dec;27(12):1808-1820. doi: 10.1038/s41431-019-0472-8. Epub 2019 Jul 22. Eur J Hum Genet. 2019. PMID: 31332305 Free PMC article.