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Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome.
Wessels K, Bohnhorst B, Luhmer I, Morlot S, Bohring A, Jonasson J, Epplen JT, Gadzicki D, Glaser S, Göhring G, Mälzer M, Hein A, Arslan-Kirchner M, Stuhrmann M, Schmidtke J, Pabst B. Wessels K, et al. Among authors: morlot s. Eur J Med Genet. 2010 Sep-Oct;53(5):280-5. doi: 10.1016/j.ejmg.2010.07.002. Epub 2010 Jul 30. Eur J Med Genet. 2010. PMID: 20624498
From a variant of unknown significance to pathogenic: Reclassification of a large novel duplication in BRCA2 by high-throughput sequencing.
van Luttikhuizen JL, Bublitz J, Schubert S, Schmidt G, Hofmann W, Morlot S, Buurman R, Auber B, Schlegelberger B, Steinemann D. van Luttikhuizen JL, et al. Among authors: morlot s. Mol Genet Genomic Med. 2020 Sep;8(9):e1045. doi: 10.1002/mgg3.1045. Epub 2019 Nov 13. Mol Genet Genomic Med. 2020. PMID: 31724318 Free PMC article.
Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.
Heidemann S, Fischer C, Engel C, Fischer B, Harder L, Schlegelberger B, Niederacher D, Goecke TO, Doelken SC, Dikow N, Jonat W, Morlot S, Schmutzler RC, Arnold NK. Heidemann S, et al. Among authors: morlot s. Breast Cancer Res Treat. 2012 Aug;134(3):1229-39. doi: 10.1007/s10549-012-2050-4. Epub 2012 Apr 26. Breast Cancer Res Treat. 2012. PMID: 22535016
Consider family history.
Morlot S, Auber B, Hille-Betz U, Pertschy S, Steinemann D, Schlegelberger B. Morlot S, et al. Dtsch Arztebl Int. 2014 May 30;111(22):403-4. doi: 10.3238/arztebl.2014.0403b. Dtsch Arztebl Int. 2014. PMID: 24980567 Free PMC article. No abstract available.
Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.
Zenker M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, Korinthenberg R, Kreiss-Nachtsheim M, Meinecke P, Morlot S, Mundlos S, Quante AS, Raskin S, Schnabel D, Wehner LE, Kratz CP, Horn D, Kutsche K. Zenker M, et al. Among authors: morlot s. J Med Genet. 2007 Feb;44(2):131-5. doi: 10.1136/jmg.2006.046300. Epub 2006 Oct 20. J Med Genet. 2007. PMID: 17056636 Free PMC article.
51 results