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Page 1
Nijmegen Breakage Syndrome.
Varon R, Demuth I, Chrzanowska KH. Varon R, et al. 1999 May 17 [updated 2023 Nov 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 1999 May 17 [updated 2023 Nov 30]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301355 Free Books & Documents. Review.
Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.
Neitzel H, Varon R, Chughtai S, Dartsch J, Dutrannoy-Tönsing V, Nürnberg P, Nürnberg G, Schweiger M, Digweed M, Hildebrand G, Hackmann K, Holtgrewe M, Sarioglu N, Schulze B, Horn D, Sperling K. Neitzel H, et al. Among authors: varon r. Hum Genet. 2022 Nov;141(11):1785-1794. doi: 10.1007/s00439-022-02461-w. Epub 2022 May 10. Hum Genet. 2022. PMID: 35536377 Free PMC article.
Investigating the effects of additional truncating variants in DNA-repair genes on breast cancer risk in BRCA1-positive women.
Sepahi I, Faust U, Sturm M, Bosse K, Kehrer M, Heinrich T, Grundman-Hauser K, Bauer P, Ossowski S, Susak H, Varon R, Schröck E, Niederacher D, Auber B, Sutter C, Arnold N, Hahnen E, Dworniczak B, Wang-Gorke S, Gehrig A, Weber BHF, Engel C, Lemke JR, Hartkopf A, Nguyen HP, Riess O, Schroeder C. Sepahi I, et al. Among authors: varon r. BMC Cancer. 2019 Aug 8;19(1):787. doi: 10.1186/s12885-019-5946-0. BMC Cancer. 2019. PMID: 31395037 Free PMC article.
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Farra C, Faust U, Felbor U, Feroce I, Fine M, Foulkes WD, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, Kvist A,… See abstract for full author list ➔ Parsons MT, et al. Among authors: varon r. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?
Seemanova E, Varon R, Vejvalka J, Jarolim P, Seeman P, Chrzanowska KH, Digweed M, Resnick I, Kremensky I, Saar K, Hoffmann K, Dutrannoy V, Karbasiyan M, Ghani M, Barić I, Tekin M, Kovacs P, Krawczak M, Reis A, Sperling K, Nothnagel M. Seemanova E, et al. Among authors: varon r. PLoS One. 2016 Dec 9;11(12):e0167984. doi: 10.1371/journal.pone.0167984. eCollection 2016. PLoS One. 2016. PMID: 27936167 Free PMC article.
Action of ellagic acid on the melanin biosynthesis pathway.
Ortiz-Ruiz CV, Berna J, Tudela J, Varon R, Garcia-Canovas F. Ortiz-Ruiz CV, et al. Among authors: varon r. J Dermatol Sci. 2016 May;82(2):115-22. doi: 10.1016/j.jdermsci.2016.02.004. Epub 2016 Feb 12. J Dermatol Sci. 2016. PMID: 26899308
Kinetic characterization of substrate-analogous inhibitors of tyrosinase.
Ortiz-Ruiz CV, Maria-Solano MA, Garcia-Molina Mdel M, Varon R, Tudela J, Tomas V, Garcia-Canovas F. Ortiz-Ruiz CV, et al. Among authors: varon r. IUBMB Life. 2015 Oct;67(10):757-67. doi: 10.1002/iub.1432. Epub 2015 Sep 24. IUBMB Life. 2015. PMID: 26399372 Free article.
208 results