Rahner N - Search Results

1

Trichorhinophalangeal syndrome type I: a novel mutation and Perthes-like changes of the hip in a family with 4 cases over 3 generations.

Hufeland M, Rahner N, Krauspe R. Hufeland M, et al. Among authors: rahner n. J Pediatr Orthop. 2015 Jan;35(1):e1-5. doi: 10.1097/BPO.0000000000000330. J Pediatr Orthop. 2015. PMID: 25333908

2

Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management.

Meyer R, Soellner L, Begemann M, Dicks S, Fekete G, Rahner N, Zerres K, Elbracht M, Eggermann T. Meyer R, et al. Among authors: rahner n. J Pediatr. 2017 Aug;187:206-212.e1. doi: 10.1016/j.jpeds.2017.04.018. Epub 2017 May 19. J Pediatr. 2017. PMID: 28529015

3

MSH6 mutation in Muir-Torre syndrome: could this be a rare finding?

Mangold E, Rahner N, Friedrichs N, Buettner R, Pagenstecher C, Aretz S, Friedl W, Ruzicka T, Propping P, Rütten A, Kruse R. Mangold E, et al. Among authors: rahner n. Br J Dermatol. 2007 Jan;156(1):158-62. doi: 10.1111/j.1365-2133.2006.07607.x. Br J Dermatol. 2007. PMID: 17199584 No abstract available.

4

A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy.

Rahner N, Nuernberg G, Finis D, Nuernberg P, Royer-Pokora B. Rahner N, et al. Ophthalmic Genet. 2016 Sep;37(3):294-300. doi: 10.3109/13816810.2015.1071408. Epub 2016 Feb 11. Ophthalmic Genet. 2016. PMID: 26865426

5

Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus.

Rahner N, Höefler G, Högenauer C, Lackner C, Steinke V, Sengteller M, Friedl W, Aretz S, Propping P, Mangold E, Walldorf C. Rahner N, et al. Am J Med Genet A. 2008 May 15;146A(10):1314-9. doi: 10.1002/ajmg.a.32210. Am J Med Genet A. 2008. PMID: 18409202 Review.

6

Age-dependent performance of BRAF mutation testing in Lynch syndrome diagnostics.

Bläker H, Haupt S, Morak M, Holinski-Feder E, Arnold A, Horst D, Sieber-Frank J, Seidler F, von Winterfeld M, Alwers E, Chang-Claude J, Brenner H, Roth W, Engel C, Löffler M, Möslein G, Schackert HK, Weitz J, Perne C, Aretz S, Hüneburg R, Schmiegel W, Vangala D, Rahner N, Steinke-Lange V, Heuveline V, von Knebel Doeberitz M, Ahadova A, Hoffmeister M, Kloor M; German Consortium for Familial Intestinal Cancer. Bläker H, et al. Among authors: rahner n. Int J Cancer. 2020 Nov 15;147(10):2801-2810. doi: 10.1002/ijc.33273. Epub 2020 Sep 14. Int J Cancer. 2020. PMID: 32875553 Free article.

7

The Apparent Genetic Anticipation in PMS2-Associated Lynch Syndrome Families Is Explained by Birth-cohort Effect.

Ten Broeke SW, Rodríguez-Girondo M, Suerink M, Aretz S, Bernstein I, Capellá G, Engel C, Gomez-Garcia EB, van Hest LP, von Knebel Doeberitz M, Lagerstedt-Robinson K, Letteboer TGW, Moller P, van Os TA, Pineda M, Rahner N, Olderode-Berends MJW, von Salomé J, Schackert HK, Spruijt L, Steinke-Lange V, Wagner A, Tops CMJ, Nielsen M. Ten Broeke SW, et al. Among authors: rahner n. Cancer Epidemiol Biomarkers Prev. 2019 Jun;28(6):1010-1014. doi: 10.1158/1055-9965.EPI-18-0576. Epub 2019 Mar 1. Cancer Epidemiol Biomarkers Prev. 2019. PMID: 30824524

8

Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome.

Rahner N, Friedrichs N, Wehner M, Steinke V, Aretz S, Friedl W, Buettner R, Mangold E, Propping P, Walldorf C. Rahner N, et al. Acta Oncol. 2007;46(6):763-9. doi: 10.1080/02841860701230217. Acta Oncol. 2007. PMID: 17653898

9

Coexisting somatic promoter hypermethylation and pathogenic MLH1 germline mutation in Lynch syndrome.

Rahner N, Friedrichs N, Steinke V, Aretz S, Friedl W, Buettner R, Mangold E, Propping P, Walldorf C. Rahner N, et al. J Pathol. 2008 Jan;214(1):10-6. doi: 10.1002/path.2263. J Pathol. 2008. PMID: 17973250

10

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. Among authors: rahner n. 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

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