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Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.
Basmanav FB, Cesarato N, Kumar S, Borisov O, Kokordelis P, Ralser DJ, Wehner M, Axt D, Xiong X, Thiele H, Dolgin V, Gossmann Y, Fricker N, Dewenter MK, Weller K, Suri M, Reichenbach H, Oji V, Addor MC, Ramirez K, Stewart H, Garcia Bartels N, Weibel L, Wagner N, George S, Kilic A, Tantcheva-Poor I, Stewart A, Dikow N, Blaumeiser B, Medvecz M, Blume-Peytavi U, Farrant P, Grimalt R, Bertok S, Bradley L, Eskin-Schwartz M, Birk OS, Bygum A, Simon M, Krawitz P, Fischer C, Hamm H, Fritz G, Betz RC. Basmanav FB, et al. Among authors: fischer c. JAMA Dermatol. 2022 Nov 1;158(11):1245-1253. doi: 10.1001/jamadermatol.2022.2319. JAMA Dermatol. 2022. PMID: 36044230 Free PMC article.
DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome.
Dikow N, Granzow M, Graul-Neumann LM, Karch S, Hinderhofer K, Paramasivam N, Behl LJ, Kaufmann L, Fischer C, Evers C, Schlesner M, Eils R, Borck G, Zweier C, Bartram CR, Carey JC, Moog U. Dikow N, et al. Among authors: fischer c. Am J Med Genet A. 2017 May;173(5):1369-1373. doi: 10.1002/ajmg.a.38164. Epub 2017 Mar 29. Am J Med Genet A. 2017. PMID: 28371085
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: fischer c, fischer b. 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
Cancer surveillance and distress among adult pathogenic TP53 germline variant carriers in Germany: A multicenter feasibility and acceptance survey.
Rippinger N, Fischer C, Haun MW, Rhiem K, Grill S, Kiechle M, Cremer FW, Kast K, Nguyen HP, Ditsch N, Kratz CP, Vogel J, Speiser D, Hettmer S, Glimm H, Fröhling S, Jäger D, Seitz S, Hahne A, Maatouk I, Sutter C, Schmutzler RK, Dikow N, Schott S. Rippinger N, et al. Among authors: fischer c. Cancer. 2020 Sep 1;126(17):4032-4041. doi: 10.1002/cncr.33004. Epub 2020 Jun 18. Cancer. 2020. PMID: 32557628 Free article.
NGS allele counts versus called genotypes for testing genetic association.
González Silos R, Fischer C, Lorenzo Bermejo J. González Silos R, et al. Among authors: fischer c. Comput Struct Biotechnol J. 2022 Jul 11;20:3729-3733. doi: 10.1016/j.csbj.2022.07.016. eCollection 2022. Comput Struct Biotechnol J. 2022. PMID: 35891781 Free PMC article.
Evaluating the performance of the breast cancer genetic risk models BOADICEA, IBIS, BRCAPRO and Claus for predicting BRCA1/2 mutation carrier probabilities: a study based on 7352 families from the German Hereditary Breast and Ovarian Cancer Consortium.
Fischer C, Kuchenbäcker K, Engel C, Zachariae S, Rhiem K, Meindl A, Rahner N, Dikow N, Plendl H, Debatin I, Grimm T, Gadzicki D, Flöttmann R, Horvath J, Schröck E, Stock F, Schäfer D, Schwaab I, Kartsonaki C, Mavaddat N, Schlegelberger B, Antoniou AC, Schmutzler R; German Consortium for Hereditary Breast and Ovarian Cancer. Fischer C, et al. J Med Genet. 2013 Jun;50(6):360-7. doi: 10.1136/jmedgenet-2012-101415. Epub 2013 Apr 6. J Med Genet. 2013. PMID: 23564750
2,765 results