331 results on '"Bosse K."'
Search Results
2. Entwicklung eines Ivermectin-haltigen Saftes als Magistralrezeptur für Kinder zur Therapie der Skabies
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Wohlrab, Johannes, Stadie, L., Neubert, R. H. H., and Bosse, K.
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- 2021
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3. Genome sequencing of HBOC patients in routine diagnostics
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Witt, D, additional, Haack, T, additional, Faust, U, additional, Stäbler, A, additional, Gauß, S, additional, Kelemen, O, additional, Bosse, K, additional, Rieß, O, additional, Sturm, M, additional, and Schröder, C, additional
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- 2022
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4. Beyond BRCA1 and BRCA2 – evaluation of 123 carriers of pathogenic variants in other HBOC associated genes
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Bosse, K., additional, Ruisinger, L., additional, Uhde, A.-K., additional, Faust, U., additional, Stäbler, A., additional, Rieß, O., additional, Röhm, C., additional, Helms, G., additional, Hoopmann, U., additional, Fugunt, R., additional, Böer, B., additional, Gürgan, S., additional, Hoffmann, D., additional, Höller, A., additional, Oberlechner, E., additional, Brucker, S., additional, Wallwiener, D., additional, Hahn, M., additional, Schroeder, C., additional, and Gruber, I., additional
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- 2022
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- View/download PDF
5. Diagnose eines Aneurysmas spuriums der A. cervicalis superficialis im Rahmen der axillären Lymphknotensonographie
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Pasternak, J., additional, Hattermann, V., additional, Böer, B., additional, Bosse, K., additional, Fugunt, R., additional, Gruber, I., additional, Gürgan, S., additional, Hoffmann, D., additional, Höller, A., additional, Hoopmann, U., additional, Klemt, A., additional, Röhm, C., additional, Sandru, M., additional, Hahn, M., additional, and Helms, G., additional
- Published
- 2022
- Full Text
- View/download PDF
6. Genomsequenzierung in der FBREK-Diagnostik
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Witt, D., additional, Stäbler, A., additional, Faust, U., additional, Sturm, M., additional, Gauß, S., additional, Menden, B., additional, Bosse, K., additional, Rieß, O., additional, Tobias, H., additional, Park, J., additional, and Schroeder, C., additional
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- 2022
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7. Atopic Eczema as a Psychosomatic Disease: A Model for Integrated Treatment
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Bosse, K., Ruzicka, Thomas, editor, Ring, Johannes, editor, and Przybilla, Bernhard, editor
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- 1991
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8. Association of hormone receptor status with grading, age of onset, and tumor size in BRCA1-associated breast cancer
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Graeser, M., Bosse, K., Brosig, M., Engel, C., Schmutzler, R. K., and on behalf of the German Consortium for Hereditary Breast and Ovarian Cancer
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- 2009
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9. Der interessante senologische Fall: Simultane pathogene BRCA2- und PALB2 -Varianten beim Mann mit Brust- und Prostatakarzinom.
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Spogis, A., Bosse, K., Hartkopf, A., Engler, T., Schroeder, C., Faust, U., Hahn, M., Röhm, C., Helms, G., Hoopmann, U., Böer, B., Gürgan, S., Preibsch, H., Staebler, A., Brucker, S., and Gruber, I.
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- 2024
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10. Pathogene BRIP1-Varianten - doch Mammakarzinom-assoziiert?
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Witt, D, additional, Bosse, K, additional, Ruisinger, L, additional, Park, J, additional, Faust, U, additional, Stäbler, A, additional, Gruber, I, additional, Hartkopf, A, additional, Dufke, A, additional, Rieß, O, additional, and Schroeder, C, additional
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- 2021
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11. Zufallsbefund bei prophylaktischer Operation- „der schlafende Hund“
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Gürgan, S, additional, Bosse, K, additional, Böer, B, additional, Fugunt, R, additional, Gall, C, additional, Helms, G, additional, Hoopmann, U, additional, Sandru, M, additional, Röhm, C, additional, and Hahn, M, additional
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- 2021
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12. Klinisch-pathologische Charakterisierung von 1078 Ratsuchenden mit pathogener CHEK2 Mutation aus dem Deutschen Konsortium Familiärer Brust- und Eierstockkrebs (DK-FBREK)
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Bosse, K, additional, Faust, U, additional, Gruber, I, additional, Habhab, W, additional, Günther, G, additional, Siebers-Renelt, U, additional, Kiechle, M, additional, Speiser, D, additional, Dikow, N, additional, Kast, K, additional, Arnold, N, additional, Vesper, A-S, additional, Harbeck, N, additional, Briest, S, additional, Thomssen, C, additional, Gehrig, A, additional, Wallaschek, H, additional, Solbach, C, additional, Wolf, M, additional, Witzel, I, additional, Holzhauser, I, additional, Kaulfuß, S, additional, Janni, W, additional, Engel, C, additional, Rieß, O, additional, Schmutzler, R, additional, and Schroeder, C, additional
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- 2020
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13. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
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Fachal, L., Aschard, H., Beesley, J., Barnes, D.R., Allen, J., Kar, S., Pooley, K.A., Dennis, J., Michailidou, K., Turman, C., Soucy, P., Lemaçon, A., Lush, M., Tyrer, J.P., Ghoussaini, M., Marjaneh, M.M., Jiang, X., Agata, S., Aittomäki, K., Alonso, M.R., Andrulis, I.L., Anton-Culver, H., Antonenkova, N.N., Arason, A., Arndt, V., Aronson, K.J., Arun, B.K., Auber, B., Auer, P.L., Azzollini, J., Balmaña, J., Barkardottir, R.B., Barrowdale, D., Beeghly-Fadiel, A., Benitez, J., Bermisheva, M., Białkowska, K., Blanco, A.M., Blomqvist, C., Blot, W., Bogdanova, N.V., Bojesen, S.E., Bolla, M.K., Bonanni, B., Borg, A., Bosse, K., Brauch, H., Brenner, H., Briceno, I., Brock, I.W., Brooks-Wilson, A., Brüning, T., Burwinkel, B., Buys, S.S., Cai, Q., Caldés, T., Caligo, M.A., Camp, N.J., Campbell, I., Canzian, F., Carroll, J.S., Carter, B.D., Castelao, J.E., Chiquette, J., Christiansen, H., Chung, W.K., Claes, K.B.M., Clarke, C.L., Mari, V., Berthet, P., Castera, L., Vaur, D., Lallaoui, H., Bignon, Y.-J., Uhrhammer, N., Bonadona, V., Lasset, C., Révillion, F., Vennin, P., Muller, D., Gomes, D.M., Ingster, O., Coupier, I., Pujol, P., Collonge-Rame, M.-A., Mortemousque, I., Bera, O., Rose, M., Baurand, A., Bertolone, G., Faivre, L., Dreyfus, H., Leroux, D., Venat-Bouvet, L., Bézieau, S., Delnatte, C., Chiesa, J., Gilbert-Dussardier, B., Gesta, P., Prieur, F.P., Bronner, M., Sokolowska, J., Coulet, F., Boutry-Kryza, N., Calender, A., Giraud, S., Leone, M., Fert-Ferrer, S., Stoppa-Lyonnet, D., Jiao, Y., Lesueur, F.L., Mebirouk, N., Barouk-Simonet, E., Bubien, V., Longy, M., Sevenet, N., Gladieff, L., Toulas, C., Reimineras, A., Sobol, H., Paillerets, B.B.-D., Cabaret, O., Caron, O., Guillaud-Bataille, M., Rouleau, E., Belotti, M., Buecher, B., Caputo, S., Colas, C., Pauw, A.D., Fourme, E., Gauthier-Villars, M., Golmard, L., Moncoutier, V., Saule, C., Donaldson, A., Murray, A., Brady, A., Brewer, C., Pottinger, C., Miller, C., Gallagher, D., Gregory, H., Cook, J., Eason, J., Adlard, J., Barwell, J., Ong, K.-R., Snape, K., Walker, L., Izatt, L., Side, L., Tischkowitz, M., Rogers, M.T., Porteous, M.E., Ahmed, M., Morrison, P.J., Brennan, P., Eeles, R., Davidson, R., Collée, M., Cornelissen, S., Couch, F.J., Cox, A., Cross, S.S., Cybulski, C., Czene, K., Daly, M.B., de la Hoya, M., Devilee, P., Diez, O., Ding, Y.C., Dite, G.S., Domchek, S.M., Dörk, T., dos-Santos-Silva, I., Droit, A., Dubois, S., Dumont, M., Duran, M., Durcan, L., Dwek, M., Eccles, D.M., Engel, C., Eriksson, M., Evans, D.G., Fasching, P.A., Fletcher, O., Floris, G., Flyger, H., Foretova, L., Foulkes, W.D., Friedman, E., Fritschi, L., Frost, D., Gabrielson, M., Gago-Dominguez, M., Gambino, G., Ganz, P.A., Gapstur, S.M., Garber, J., García-Sáenz, J.A., Gaudet, M.M., Georgoulias, V., Giles, G., Glendon, G., Godwin, A.K., Goldberg, M.S., Goldgar, D.E., González-Neira, A., Tibiletti, M.G., Greene, M.H., Grip, M., Gronwald, J., Grundy, A., Guénel, P., Hahnen, E., Haiman, C.A., Håkansson, N., Hall, P., Hamann, U., Harrington, P.A., Hartikainen, J.M., Hartman, M., He, W., Healey, C.S., Heemskerk-Gerritsen, B.A.M., Heyworth, J., Hillemanns, P., Hogervorst, F.B.L., Hollestelle, A., Hooning, M., Hopper, J., Howell, A., Huang, G., Hulick, P.J., Imyanitov, E.N., Sexton, A., Christian, A., Trainer, A., Spigelman, A., Fellows, A., Shelling, A., Fazio, A.D., Blackburn, A., Crook, A., Meiser, B., Patterson, B., Clarke, C., Saunders, C., Hunt, C., Scott, C., Amor, D., Marsh, D., Edkins, E., Salisbury, E., Haan, E., Neidermayr, E., Macrea, F., Farshid, G., Lindeman, G., Chenevix-Trench, G., Mann, G., Gill, G., Thorne, H., Hickie, I., Winship, I., Flanagan, J., Kollias, J., Visvader, J., Stone, J., Taylor, J., Burke, J., Saunus, J., Forbes, J., Kirk, J., French, J., Tucker, K., Wu, K., Phillips, K., Lipton, L., Andrews, L., Lobb, L., Kentwell, M., Spurdle, M., Cummings, M., Gleeson, M., Harris, M., Jenkins, M., Young, M.A., Delatycki, M., Wallis, M., Burgess, M., Price, M., Brown, M., Southey, M., Bogwitz, M., Field, M., Friedlander, M., Gattas, M., Saleh, M., Hayward, N., Pachter, N., Cohen, P., Duijf, P., James, P., Simpson, P., Fong, P., Butow, P., Williams, R., Kefford, R., Scott, R., Milne, R.L., Balleine, R., Dawson, S.–J., Lok, S., O’Connell, S., Greening, S., Nightingale, S., Edwards, S., Fox, S., McLachlan, S.-A., Lakhani, S., Antill, Y., Aalfs, C., Meijers-Heijboer, H., van Engelen, K., Gille, H., Boere, I., van Deurzen, C., Obdeijn, I.-M., van den Ouweland, A., Seynaeve, C., Siesling, S., Verloop, J., van Asperen, C.J., van Cronenburg, T., Blok, R., de Boer, M., Garcia, E.G., Adank, M., Hogervorst, F., Jenner, D., van Leeuwen, F., Rookus, M., Russell, N., Schmidt, M., van den Belt-Dusebout, S., Kets, C., Mensenkamp, A., de Bock, T., van der Hout, A., Mourits, M., Oosterwijk, J., Ausems, M., Koudijs, M., Baxter, R., Yip, D., Carpenter, J., Davis, A., Pathmanathan, N., Graham, D., Sachchithananthan, M., Isaacs, C., Iwasaki, M., Jager, A., Jakimovska, M., Jakubowska, A., James, P.A., Janavicius, R., Jankowitz, R.C., John, E.M., Johnson, N., Jones, M.E., Jukkola-Vuorinen, A., Jung, A., Kaaks, R., Kang, D., Kapoor, P.M., Karlan, B.Y., Keeman, R., Kerin, M.J., Khusnutdinova, E., Kiiski, J.I., Kitahara, C.M., Ko, Y.-D., Konstantopoulou, I., Kosma, V.-M., Koutros, S., Kubelka-Sabit, K., Kwong, A., Kyriacou, K., Laitman, Y., Lambrechts, D., Lee, E., Leslie, G., Lester, J., Lesueur, F., Lindblom, A., Lo, W.-Y., Long, J., Lophatananon, A., Loud, J.T., Lubiński, J., MacInnis, R.J., Maishman, T., Makalic, E., Mannermaa, A., Manoochehri, M., Manoukian, S., Margolin, S., Martinez, M.E., Matsuo, K., Maurer, T., Mavroudis, D., Mayes, R., McGuffog, L., McLean, C., Meindl, A., Miller, A., Miller, N., Montagna, M., Moreno, F., Muir, K., Mulligan, A.M., Muñoz-Garzon, V.M., Muranen, T.A., Narod, S.A., Nassir, R., Nathanson, K.L., Neuhausen, S.L., Nevanlinna, H., Neven, P., Nielsen, F.C., Nikitina-Zake, L., Norman, A., Offit, K., Olah, E., Olopade, O.I., Olsson, H., Orr, N., Osorio, A., Pankratz, V.S., Papp, J., Park, S.K., Park-Simon, T.-W., Parsons, M.T., Paul, J., Pedersen, I.S., Peissel, B., Peshkin, B., Peterlongo, P., Peto, J., Plaseska-Karanfilska, D., Prajzendanc, K., Prentice, R., Presneau, N., Prokofyeva, D., Pujana, M.A., Pylkäs, K., Radice, P., Ramus, S.J., Rantala, J., Rau-Murthy, R., Rennert, G., Risch, H.A., Robson, M., Romero, A., Rossing, M., Saloustros, E., Sánchez-Herrero, E., Sandler, D.P., Santamariña, M., Sawyer, E.J., Scheuner, M.T., Schmidt, D.F., Schmutzler, R.K., Schneeweiss, A., Schoemaker, M.J., Schöttker, B., Schürmann, P., Scott, R.J., Senter, L., Seynaeve, C.M., Shah, M., Sharma, P., Shen, C.-Y., Shu, X.-O., Singer, C.F., Slavin, T.P., Smichkoska, S., Southey, M.C., Spinelli, J.J., Spurdle, A.B., Sutter, C., Swerdlow, A.J., Tamimi, R.M., Tan, Y.Y., Tapper, W.J., Taylor, J.A., Teixeira, M.R., Tengström, M., Teo, S.H., Terry, M.B., Teulé, A., Thomassen, M., Thull, D.L., Toland, A.E., Tollenaar, R.A.E.M., Tomlinson, I., Torres, D., Torres-Mejía, G., Troester, M.A., Truong, T., Tung, N., Tzardi, M., Ulmer, H.-U., Vachon, C.M., van der Kolk, L.E., van Rensburg, E.J., Vega, A., Viel, A., Vijai, J., Vogel, M.J., Wang, Q., Wappenschmidt, B., Weinberg, C.R., Weitzel, J.N., Wendt, C., Wildiers, H., Winqvist, R., Wolk, A., Wu, A.H., Yannoukakos, D., Zhang, Y., Zheng, W., Hunter, D., Pharoah, P.D.P., Chang-Claude, J., García-Closas, M., Schmidt, M.K., Kristensen, V.N., French, J.D., Edwards, S.L., Antoniou, A.C., Simard, J., Easton, D.F., Kraft, P., Dunning, A.M., Collaborators, GEMO Study, Collaborators, EMBRACE, Investigators, KConFab, Investigators, HEBON, Investigators, ABCTB, Fachal, Laura, Aschard, Hugues, Beesley, Jonathan, Barnes, Daniel R, Duijf, Pascal, Dunning, Alison M, GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, ABCTB Investigators, MUMC+: MA Medische Oncologie (9), RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, Klinische Genetica, MUMC+: DA KG Polikliniek (9), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), European Commission, Government of Canada, Canadian Institutes of Health Research, National Institutes of Health (US), Cancer Research UK, Département de Biologie Computationnelle - Department of Computational Biology, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), QIMR Berghofer Medical Research Institute, University of Cambridge [UK] (CAM), NSCAD, University of Cyprus [Nicosia], Harvard T.H. Chan School of Public Health, This work was supported by the European Union’s Horizon 2020 Research and Innovation Programme under Marie Sklodowska-Curie grant agreement number 656144. Genotyping of the OncoArray was principally funded from three sources: the PERSPECTIVE project (funded by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research, the ‘Ministère de l’Économie de la Science et de l’Innovation du Québec’ (through Genome Québec) and the Quebec Breast Cancer Foundation), the NCI Genetic Associations and Mechanisms in Oncology (GAME-ON) initiative and the Discovery, Biology and Risk of Inherited Variants in Breast Cancer (DRIVE) project (NIH grants U19 CA148065 and X01HG007492), and Cancer Research UK (C1287/A10118, C8197/A16565 and C1287/A16563). BCAC is funded by Cancer Research UK (C1287/A16563), by the European Community’s Seventh Framework Programme under grant agreement 223175 (HEALTH-F2-2009-223175) (COGS) and by the European Union’s Horizon 2020 Research and Innovation Programme under grant agreements 633784 (B-CAST) and 634935 (BRIDGES). Genotyping of the iCOGS array was funded by the European Union (HEALTH-F2-2009-223175), Cancer Research UK (C1287/A10710), the Canadian Institutes of Health Research for the ‘CIHR Team in Familial Risks of Breast Cancer’ program, and the Ministry of Economic Development, Innovation and Export Trade of Quebec (grant PSR-SIIRI-701). Combining of the GWAS data was supported in part by NIH Cancer Post-Cancer GWAS initiative grant U19 CA 148065 (DRIVE, part of the GAME-ON initiative). For a full description of funding and acknowledgments, see the Supplementary Note., We thank all of the individuals who took part in these studies, as well as all of the researchers, clinicians, technicians and administrative staff who enabled this work to be carried out, European Project: 656144,H2020,H2020-MSCA-IF-2014,RADIOGENFF(2016), European Project: 223175,EC:FP7:HEALTH,FP7-HEALTH-2007-B,COGS(2009), European Project: 633784,H2020,H2020-PHC-2014-two-stage,B-CAST(2015), European Project: 634935,H2020,H2020-PHC-2014-two-stage,BRIDGES(2015), Clinical Genetics, Medical Oncology, Pathology, Radiology & Nuclear Medicine, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), University of Cyprus [Nicosia] (UCY), Centre de recherche en épidémiologie et santé des populations (CESP), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Paul Brousse-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Damage and Repair in Cancer Development and Cancer Treatment (DARE), Life Course Epidemiology (LCE), Targeted Gynaecologic Oncology (TARGON), Basic and Translational Research and Imaging Methodology Development in Groningen (BRIDGE), Aschard, Hugues [0000-0002-7554-6783], Barnes, Daniel R [0000-0002-3781-7570], Dennis, Joe [0000-0003-4591-1214], Michailidou, Kyriaki [0000-0001-7065-1237], Lemaçon, Audrey [0000-0002-1817-7029], Andrulis, Irene L [0000-0002-4226-6435], Arason, Adalgeir [0000-0003-0480-886X], Arndt, Volker [0000-0001-9320-8684], Auber, Bernd [0000-0003-1880-291X], Azzollini, Jacopo [0000-0002-9364-9778], Bojesen, Stig E [0000-0002-4061-4133], Bonanni, Bernardo [0000-0003-3589-2128], Brauch, Hiltrud [0000-0001-7531-2736], Campbell, Ian [0000-0002-7773-4155], Carroll, Jason S [0000-0003-3643-0080], Claes, Kathleen BM [0000-0003-0841-7372], Collée, J Margriet [0000-0002-9272-9346], Devilee, Peter [0000-0002-8023-2009], Dörk, Thilo [0000-0002-9458-0282], Dwek, Miriam [0000-0001-7184-2932], Fletcher, Olivia [0000-0001-9387-7116], Floris, Giuseppe [0000-0003-2391-5425], Foulkes, William D [0000-0001-7427-4651], García-Sáenz, José A [0000-0001-6880-0301], Greene, Mark H [0000-0003-1852-9239], Guénel, Pascal [0000-0002-8359-518X], Heemskerk-Gerritsen, Bernadette AM [0000-0002-9724-6693], Hollestelle, Antoinette [0000-0003-1166-1966], Hulick, Peter J [0000-0001-8397-4078], Jakimovska, Milena [0000-0002-1506-0669], Jakubowska, Anna [0000-0002-5650-0501], James, Paul A [0000-0002-4361-4657], Jones, Michael E [0000-0001-7479-3451], Kapoor, Pooja Middha [0000-0001-5503-8215], Keeman, Renske [0000-0002-5452-9933], Konstantopoulou, Irene [0000-0002-0470-0309], Leslie, Goska [0000-0001-5756-6222], Lesueur, Fabienne [0000-0001-7404-4549], Matsuo, Keitaro [0000-0003-1761-6314], McLean, Catriona [0000-0002-0302-5727], Miller, Austin [0000-0001-9739-8462], Muir, Kenneth [0000-0001-6429-988X], Muranen, Taru A [0000-0002-5895-1808], Nathanson, Katherine L [0000-0002-6740-0901], Nevanlinna, Heli [0000-0002-0916-2976], Olopade, Olufunmilayo I [0000-0002-9936-1599], Orr, Nick [0000-0003-2866-942X], Pankratz, V Shane [0000-0002-3742-040X], Parsons, Michael T [0000-0003-3242-8477], Paul, James [0000-0001-7367-5816], Peshkin, Beth [0000-0002-2997-4701], Peterlongo, Paolo [0000-0001-6951-6855], Peto, Julian [0000-0002-1685-8912], Plaseska-Karanfilska, Dijana [0000-0001-8877-2416], Pylkäs, Katri [0000-0002-2449-0521], Radice, Paolo [0000-0001-6298-4111], Rennert, Gad [0000-0002-8512-068X], Robson, Mark [0000-0002-3109-1692], Romero, Atocha [0000-0002-1634-7397], Saloustros, Emmanouil [0000-0002-0485-0120], Scott, Christopher [0000-0003-1340-0647], Scott, Rodney J [0000-0001-7724-3404], Spurdle, Amanda B [0000-0003-1337-7897], Stone, Jennifer [0000-0001-5077-0124], Sutter, Christian [0000-0003-4051-5888], Tan, Yen Yen [0000-0003-1063-5352], Teixeira, Manuel R [0000-0002-4896-5982], Toland, Amanda E [0000-0002-0271-1792], Tomlinson, Ian [0000-0003-3037-1470], Viel, Alessandra [0000-0003-2804-0840], Vijai, Joseph [0000-0002-7933-151X], Wolk, Alicja [0000-0001-7387-6845], Yannoukakos, Drakoulis [0000-0001-7509-3510], Pharoah, Paul DP [0000-0001-8494-732X], Schmidt, Marjanka K [0000-0002-2228-429X], Milne, Roger L [0000-0001-5764-7268], Edwards, Stacey L [0000-0001-7428-4139], Simard, Jacques [0000-0001-6906-3390], Easton, Douglas F [0000-0003-2444-3247], Kraft, Peter [0000-0002-4472-8103], Dunning, Alison M [0000-0001-6651-7166], Apollo - University of Cambridge Repository, Academic Medical Center, ARD - Amsterdam Reproduction and Development, Human genetics, CCA - Cancer biology and immunology, Molecular cell biology and Immunology, Medicum, Kristiina Aittomäki / Principal Investigator, HUSLAB, Department of Medical and Clinical Genetics, University of Helsinki, HUS Comprehensive Cancer Center, Department of Oncology, Clinicum, Doctoral Programme in Clinical Research, Staff Services, INDIVIDRUG - Individualized Drug Therapy, HUS Gynecology and Obstetrics, and Department of Obstetrics and Gynecology
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CHROMATIN ,Linkage disequilibrium ,Genome-wide association study ,Regulatory Sequences, Nucleic Acid ,Genome-wide association studies ,Linkage Disequilibrium ,Basic medicine ,0302 clinical medicine ,Breast cancer ,MESH: Risk Factors ,Risk Factors ,COMPREHENSIVE MOLECULAR PORTRAITS ,11 Medical and Health Sciences ,HEBON Investigators ,Genetics & Heredity ,0303 health sciences ,[STAT.AP]Statistics [stat]/Applications [stat.AP] ,PROTEIN FUNCTION ,Tumor ,breast tumor ,MESH: Polymorphism, Single Nucleotide ,1184 Genetics, developmental biology, physiology ,MESH: Genetic Predisposition to Disease ,apoptosis ,Chromosome Mapping ,Single Nucleotide ,3. Good health ,MESH: Linkage Disequilibrium ,Female ,MESH: Biomarkers, Tumor ,Biomarkers, Tumor/genetics ,[STAT.ME]Statistics [stat]/Methodology [stat.ME] ,Life Sciences & Biomedicine ,SUSCEPTIBILITY LOCI ,MESH: Bayes Theorem ,Quantitative Trait Loci ,ABCTB Investigators ,INTEGRATIVE ANALYSIS ,Breast Neoplasms ,Computational biology ,Biology ,Quantitative trait locus ,Breast Neoplasms/genetics ,Polymorphism, Single Nucleotide ,Article ,ENHANCER ,GEMO Study Collaborators ,03 medical and health sciences ,breast cancer ,SDG 3 - Good Health and Well-being ,REVEALS ,Genetics ,Biomarkers, Tumor ,MESH: Regulatory Sequences, Nucleic Acid ,Humans ,Genetic Predisposition to Disease ,Polymorphism ,GENOME-WIDE ASSOCIATION ,FUNCTIONAL VARIANTS ,EMBRACE Collaborators ,Gene ,030304 developmental biology ,Genetic association ,Bayes Theorem ,Genome-Wide Association Study ,MESH: Humans ,Science & Technology ,Nucleic Acid ,gene mapping ,06 Biological Sciences ,MESH: Quantitative Trait Loci ,DNA binding site ,ESTROGEN-RECEPTOR ,[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ,Clinical medicine ,Expression quantitative trait loci ,MESH: Genome-Wide Association Study ,Human genome ,[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie ,KConFab Investigators ,[INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM] ,MESH: Chromosome Mapping ,Chromosome Mapping/methods ,Regulatory Sequences ,MESH: Female ,Biomarkers ,030217 neurology & neurosurgery ,MESH: Breast Neoplasms ,Developmental Biology - Abstract
Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible causal variants in each one. In parallel, we used a Bayesian approach (PAINTOR) that combines genetic association, linkage disequilibrium and enriched genomic features to determine variants with high posterior probabilities of being causal. Potentially causal variants were significantly over-represented in active gene regulatory regions and transcription factor binding sites. We applied our INQUSIT pipeline for prioritizing genes as targets of those potentially causal variants, using gene expression (expression quantitative trait loci), chromatin interaction and functional annotations. Known cancer drivers, transcription factors and genes in the developmental, apoptosis, immune system and DNA integrity checkpoint gene ontology pathways were over-represented among the highest-confidence target genes., This work was supported by the European Union’s Horizon 2020 Research and Innovation Programme under Marie Sklodowska-Curie grant agreement number 656144. Genotyping of the OncoArray was principally funded from three sources: the PERSPECTIVE project (funded by the Government of Canada through Genome Canada and the Canadian Institutes of Health Research, the ‘Ministère de l’Économie de la Science et de l’Innovation du Québec’ (through Genome Québec) and the Quebec Breast Cancer Foundation); the NCI Genetic Associations and Mechanisms in Oncology (GAME-ON) initiative and the Discovery, Biology and Risk of Inherited Variants in Breast Cancer (DRIVE) project (NIH grants U19 CA148065 and X01HG007492); and Cancer Research UK (C1287/A10118, C8197/A16565 and C1287/A16563). BCAC is funded by Cancer Research UK (C1287/A16563), by the European Community’s Seventh Framework Programme under grant agreement 223175 (HEALTH-F2-2009-223175) (COGS) and by the European Union’s Horizon 2020 Research and Innovation Programme under grant agreements 633784 (B-CAST) and 634935 (BRIDGES). Genotyping of the iCOGS array was funded by the European Union (HEALTH-F2-2009-223175), Cancer Research UK (C1287/A10710), the Canadian Institutes of Health Research for the ‘CIHR Team in Familial Risks of Breast Cancer’ program, and the Ministry of Economic Development, Innovation and Export Trade of Quebec (grant PSR-SIIRI-701). Combining of the GWAS data was supported in part by NIH Cancer Post-Cancer GWAS initiative grant U19 CA 148065 (DRIVE; part of the GAME-ON initiative).
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- 2020
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14. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes
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Fachal, L, Aschard, H, Beesley, J, Barnes, DR, Allen, J, Kar, S, Pooley, KA, Dennis, J, Michailidou, K, Turman, C, Soucy, P, Lemaçon, A, Lush, M, Tyrer, JP, Ghoussaini, M, Marjaneh, MM, Jiang, X, Agata, S, Aittomäki, K, Alonso, MR, Andrulis, IL, Anton-Culver, H, Antonenkova, NN, Arason, A, Arndt, V, Aronson, KJ, Arun, BK, Auber, B, Auer, PL, Azzollini, J, Balmaña, J, Barkardottir, RB, Barrowdale, D, Beeghly-Fadiel, A, Benitez, J, Bermisheva, M, Białkowska, K, Blanco, AM, Blomqvist, C, Blot, W, Bogdanova, NV, Bojesen, SE, Bolla, MK, Bonanni, B, Borg, A, Bosse, K, Brauch, H, Brenner, H, Briceno, I, Brock, IW, Brooks-Wilson, A, Brüning, T, Burwinkel, B, Buys, SS, Cai, Q, Caldés, T, Caligo, MA, Camp, NJ, Campbell, I, Canzian, F, Carroll, JS, Carter, BD, Castelao, JE, Chiquette, J, Christiansen, H, Chung, WK, Claes, KBM, Clarke, CL, Mari, V, Berthet, P, Castera, L, Vaur, D, Lallaoui, H, Bignon, YJ, Uhrhammer, N, Bonadona, V, Lasset, C, Révillion, F, Vennin, P, Muller, D, Gomes, DM, Ingster, O, Coupier, I, Pujol, P, Collonge-Rame, MA, Mortemousque, I, Bera, O, Rose, M, Baurand, A, Bertolone, G, Faivre, L, Dreyfus, H, Leroux, D, Venat-Bouvet, L, Bézieau, S, Delnatte, C, Chiesa, J, Gilbert-Dussardier, B, Gesta, P, and Prieur, FP
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Quantitative Trait Loci ,ABCTB Investigators ,Breast Neoplasms ,Regulatory Sequences, Nucleic Acid ,Polymorphism, Single Nucleotide ,Medical and Health Sciences ,Linkage Disequilibrium ,GEMO Study Collaborators ,Risk Factors ,Breast Cancer ,Biomarkers, Tumor ,Genetics ,Humans ,2.1 Biological and endogenous factors ,Genetic Predisposition to Disease ,Genetic Testing ,Aetiology ,Polymorphism ,EMBRACE Collaborators ,HEBON Investigators ,Cancer ,Tumor ,Nucleic Acid ,Prevention ,Human Genome ,Chromosome Mapping ,Bayes Theorem ,Single Nucleotide ,Biological Sciences ,Female ,KConFab Investigators ,Regulatory Sequences ,Biomarkers ,Genome-Wide Association Study ,Biotechnology ,Developmental Biology - Abstract
© 2020, The Author(s), under exclusive licence to Springer Nature America, Inc. Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible causal variants in each one. In parallel, we used a Bayesian approach (PAINTOR) that combines genetic association, linkage disequilibrium and enriched genomic features to determine variants with high posterior probabilities of being causal. Potentially causal variants were significantly over-represented in active gene regulatory regions and transcription factor binding sites. We applied our INQUSIT pipeline for prioritizing genes as targets of those potentially causal variants, using gene expression (expression quantitative trait loci), chromatin interaction and functional annotations. Known cancer drivers, transcription factors and genes in the developmental, apoptosis, immune system and DNA integrity checkpoint gene ontology pathways were over-represented among the highest-confidence target genes.
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- 2020
15. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.
- Author
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Ramus S.J., Carroll J.S., Schneeweiss A., Schoemaker M.J., Schottker B., Schurmann P., Scott C., Scott R.J., Senter L., Shah M., Sharma P., Shen C.-Y., Shu X.-O., Singer C.F., Slavin T.P., Smichkoska S., Spinelli J.J., Spurdle A.B., Sutter C., Swerdlow A.J., Tamimi R.M., Tan Y.Y., Tapper W.J., Taylor J., Teixeira M.R., Tengstrom M., Teo S.H., Terry M.B., Teule A., Thomassen M., Thull D.L., Toland A.E., Tollenaar R.A.E.M., Tomlinson I., Torres D., Torres-Mejia G., Troester M.A., Truong T., Tung N., Tzardi M., Ulmer H.-U., Vachon C.M., van der Kolk L.E., van Rensburg E.J., Vega A., Viel A., Vijai J., Vogel M.J., Wang Q., Wappenschmidt B., Weinberg C.R., Weitzel J.N., Wendt C., Wildiers H., Winqvist R., Wolk A., Wu A.H., Yannoukakos D., Zhang Y., Zheng W., Hunter D., Pharoah P.D.P., Chang-Claude J., Garcia-Closas M., Schmidt M.K., Kristensen V.N., French J.D., Antoniou A.C., Chenevix-Trench G., Simard J., Easton D.F., Kraft P., Allen J., Harris M., Fachal L., Aschard H., Beesley J., Barnes D.R., Kar S., Pooley K.A., Dennis J., Michailidou K., Turman C., Soucy P., Lemacon A., Lush M., Tyrer J.P., Ghoussaini M., Marjaneh M.M., Jiang X., Agata S., Aittomaki K., Alonso M.R., Andrulis I.L., Anton-Culver H., Antonenkova N.N., Arason A., Arndt V., Aronson K.J., Arun B.K., Auber B., Auer P.L., Azzollini J., Balmana J., Barkardottir R.B., Barrowdale D., Beeghly-Fadiel A., Benitez J., Bermisheva M., Bialkowska K., Blanco A.M., Blomqvist C., Blot W., Bogdanova N.V., Bojesen S.E., Bolla M.K., Bonanni B., Borg A., Bosse K., Brauch H., Brenner H., Briceno I., Brock I.W., Brooks-Wilson A., Bruning T., Burwinkel B., Buys S.S., Cai Q., Caldes T., Caligo M.A., Camp N.J., Campbell I., Carter B.D., Castelao J.E., Chiquette J., Christiansen H., Chung W.K., Claes K.B.M., Clarke C.L., Mari V., Berthet P., Castera L., Vaur D., Lallaoui H., Bignon Y.-J., Uhrhammer N., Bonadona V., Lasset C., Revillion F., Vennin P., Muller D., Gomes D.M., Ingster O., Coupier I., Pujol P., Collonge-Rame M.-A., Mortemousque I., Bera O., Rose M., Baurand A., Bertolone G., Faivre L., Dreyfus H., Leroux D., Venat-Bouvet L., Bezieau S., Delnatte C., Chiesa J., Gilbert-Dussardier B., Gesta P., Prieur F.P., Bronner M., Sokolowska J., Coulet F., Boutry-Kryza N., Calender A., Giraud S., Leone M., Fert-Ferrer S., Stoppa-Lyonnet D., Jiao Y., Lesueur F.L., Mebirouk N., Barouk-Simonet E., Bubien V., Longy M., Sevenet N., Gladieff L., Toulas C., Reimineras A., Sobol H., Paillerets B.B.-D., Cabaret O., Caron O., Guillaud-Bataille M., Rouleau E., Belotti M., Buecher B., Caputo S., Colas C., Pauw A.D., Fourme E., Gauthier-Villars M., Golmard L., Moncoutier V., Saule C., Donaldson A., Murray A., Brady A., Brewer C., Pottinger C., Miller C., Gallagher D., Gregory H., Cook J., Eason J., Adlard J., Barwell J., Ong K.-R., Snape K., Walker L., Izatt L., Side L., Tischkowitz M., Rogers M.T., Porteous M.E., Ahmed M., Morrison P.J., Brennan P., Eeles R., Davidson R., Collee J.M., Cornelissen S., Couch F.J., Cox A., Cross S.S., Cybulski C., Czene K., Daly M.B., de la Hoya M., Devilee P., Diez O., Ding Y.C., Dite G.S., Domchek S.M., Dork T., dos-Santos-Silva I., Droit A., Dubois S., Dumont M., Duran M., Durcan L., Dwek M., Eccles D.M., Engel C., Eriksson M., Evans D.G., Fasching P.A., Fletcher O., Floris G., Flyger H., Foretova L., Foulkes W.D., Friedman E., Fritschi L., Frost D., Gabrielson M., Gago-Dominguez M., Gambino G., Ganz P.A., Gapstur S.M., Garber J., Garcia-Saenz J.A., Gaudet M.M., Georgoulias V., Giles G., Glendon G., Godwin A.K., Goldberg M.S., Goldgar D.E., Gonzalez-Neira A., Tibiletti M.G., Greene M.H., Grip M., Gronwald J., Grundy A., Guenel P., Hahnen E., Haiman C.A., Hakansson N., Hall P., Hamann U., Harrington P.A., Hartikainen J.M., Hartman M., He W., Healey C.S., Heemskerk-Gerritsen B.A.M., Heyworth J., Hillemanns P., Hogervorst F.B.L., Hollestelle A., Hooning M., Hopper J., Howell A., Huang G., Hulick P.J., Imyanitov E.N., Sexton A., Christian A., Trainer A., Spigelman A., Fellows A., Shelling A., Fazio A.D., Blackburn A., Crook A., Meiser B., Patterson B., Clarke C., Saunders C., Hunt C., Amor D., Marsh D., Edkins E., Salisbury E., Haan E., Neidermayr E., Macrea F., Farshid G., Lindeman G., Trench G., Mann G., Gill G., Thorne H., Hickie I., Winship I., Flanagan J., Kollias J., Visvader J., Stone J., Burke J., Saunus J., Forbes J., French J., Tucker K., Wu K., Phillips K., Lipton L., Andrews L., Lobb L., Kentwell M., Spurdle M., Cummings M., Gleeson M., Jenkins M., Young M.A., Delatycki M., Wallis M., Burgess M., Price M., Brown M., Southey M., Bogwitz M., Field M., Friedlander M., Gattas M., Saleh M., Hayward N., Pachter N., Cohen P., Duijf P., James P., Simpson P., Fong P., Butow P., Williams R., Kefford R., Scott R., Milne R.L., Balleine R., Dawson S.-J., Lok S., O'Connell S., Greening S., Nightingale S., Edwards S., Fox S., McLachlan S.-A., Lakhani S., Antill Y., Aalfs C., Meijers-Heijboer H., van Engelen K., Gille H., Boere I., Collee M., van Deurzen C., Obdeijn I.-M., van den Ouweland A., Seynaeve C., Siesling S., Verloop J., van Asperen C., van Cronenburg T., Blok R., de Boer M., Garcia E.G., Adank M., Hogervorst F., Jenner D., van Leeuwen F., Rookus M., Russell N., Schmidt M., van den Belt-Dusebout S., Kets C., Mensenkamp A., de Bock T., van der Hout A., Mourits M., Oosterwijk J., Ausems M., Koudijs M., Baxter R., Yip D., Carpenter J., Davis A., Pathmanathan N., Graham D., Sachchithananthan M., Isaacs C., Iwasaki M., Jager A., Jakimovska M., Jakubowska A., Janavicius R., Jankowitz R.C., John E.M., Johnson N., Jones M.E., Jukkola-Vuorinen A., Jung A., Kaaks R., Kang D., Kapoor P.M., Karlan B.Y., Keeman R., Kerin M.J., Khusnutdinova E., Kiiski J.I., Kirk J., Kitahara C.M., Ko Y.-D., Konstantopoulou I., Kosma V.-M., Koutros S., Kubelka-Sabit K., Kwong A., Kyriacou K., Laitman Y., Lambrechts D., Lee E., Leslie G., Lester J., Lesueur F., Lindblom A., Lo W.-Y., Long J., Lophatananon A., Loud J.T., Lubinski J., MacInnis R.J., Maishman T., Makalic E., Mannermaa A., Manoochehri M., Manoukian S., Margolin S., Martinez M.E., Matsuo K., Maurer T., Mavroudis D., Mayes R., McGuffog L., McLean C., Meindl A., Miller A., Miller N., Montagna M., Moreno F., Muir K., Mulligan A.M., Munoz-Garzon V.M., Muranen T.A., Narod S.A., Nassir R., Nathanson K.L., Neuhausen S.L., Nevanlinna H., Neven P., Nielsen F.C., Nikitina-Zake L., Norman A., Offit K., Olah E., Olopade O.I., Olsson H., Orr N., Osorio A., Pankratz V.S., Papp J., Park S.K., Park-Simon T.-W., Parsons M.T., Paul J., Pedersen I.S., Peissel B., Peshkin B., Peterlongo P., Peto J., Plaseska-Karanfilska D., Prajzendanc K., Prentice R., Presneau N., Prokofyeva D., Pujana M.A., Pylkas K., Radice P., Canzian F., Rantala J., Rau-Murthy R., Rennert G., Risch H.A., Robson M., Romero A., Rossing M., Saloustros E., Sanchez-Herrero E., Sandler D.P., Santamarina M., Sawyer E.J., Scheuner M.T., Schmidt D.F., Schmutzler R.K., Ramus S.J., Carroll J.S., Schneeweiss A., Schoemaker M.J., Schottker B., Schurmann P., Scott C., Scott R.J., Senter L., Shah M., Sharma P., Shen C.-Y., Shu X.-O., Singer C.F., Slavin T.P., Smichkoska S., Spinelli J.J., Spurdle A.B., Sutter C., Swerdlow A.J., Tamimi R.M., Tan Y.Y., Tapper W.J., Taylor J., Teixeira M.R., Tengstrom M., Teo S.H., Terry M.B., Teule A., Thomassen M., Thull D.L., Toland A.E., Tollenaar R.A.E.M., Tomlinson I., Torres D., Torres-Mejia G., Troester M.A., Truong T., Tung N., Tzardi M., Ulmer H.-U., Vachon C.M., van der Kolk L.E., van Rensburg E.J., Vega A., Viel A., Vijai J., Vogel M.J., Wang Q., Wappenschmidt B., Weinberg C.R., Weitzel J.N., Wendt C., Wildiers H., Winqvist R., Wolk A., Wu A.H., Yannoukakos D., Zhang Y., Zheng W., Hunter D., Pharoah P.D.P., Chang-Claude J., Garcia-Closas M., Schmidt M.K., Kristensen V.N., French J.D., Antoniou A.C., Chenevix-Trench G., Simard J., Easton D.F., Kraft P., Allen J., Harris M., Fachal L., Aschard H., Beesley J., Barnes D.R., Kar S., Pooley K.A., Dennis J., Michailidou K., Turman C., Soucy P., Lemacon A., Lush M., Tyrer J.P., Ghoussaini M., Marjaneh M.M., Jiang X., Agata S., Aittomaki K., Alonso M.R., Andrulis I.L., Anton-Culver H., Antonenkova N.N., Arason A., Arndt V., Aronson K.J., Arun B.K., Auber B., Auer P.L., Azzollini J., Balmana J., Barkardottir R.B., Barrowdale D., Beeghly-Fadiel A., Benitez J., Bermisheva M., Bialkowska K., Blanco A.M., Blomqvist C., Blot W., Bogdanova N.V., Bojesen S.E., Bolla M.K., Bonanni B., Borg A., Bosse K., Brauch H., Brenner H., Briceno I., Brock I.W., Brooks-Wilson A., Bruning T., Burwinkel B., Buys S.S., Cai Q., Caldes T., Caligo M.A., Camp N.J., Campbell I., Carter B.D., Castelao J.E., Chiquette J., Christiansen H., Chung W.K., Claes K.B.M., Clarke C.L., Mari V., Berthet P., Castera L., Vaur D., Lallaoui H., Bignon Y.-J., Uhrhammer N., Bonadona V., Lasset C., Revillion F., Vennin P., Muller D., Gomes D.M., Ingster O., Coupier I., Pujol P., Collonge-Rame M.-A., Mortemousque I., Bera O., Rose M., Baurand A., Bertolone G., Faivre L., Dreyfus H., Leroux D., Venat-Bouvet L., Bezieau S., Delnatte C., Chiesa J., Gilbert-Dussardier B., Gesta P., Prieur F.P., Bronner M., Sokolowska J., Coulet F., Boutry-Kryza N., Calender A., Giraud S., Leone M., Fert-Ferrer S., Stoppa-Lyonnet D., Jiao Y., Lesueur F.L., Mebirouk N., Barouk-Simonet E., Bubien V., Longy M., Sevenet N., Gladieff L., Toulas C., Reimineras A., Sobol H., Paillerets B.B.-D., Cabaret O., Caron O., Guillaud-Bataille M., Rouleau E., Belotti M., Buecher B., Caputo S., Colas C., Pauw A.D., Fourme E., Gauthier-Villars M., Golmard L., Moncoutier V., Saule C., Donaldson A., Murray A., Brady A., Brewer C., Pottinger C., Miller C., Gallagher D., Gregory H., Cook J., Eason J., Adlard J., Barwell J., Ong K.-R., Snape K., Walker L., Izatt L., Side L., Tischkowitz M., Rogers M.T., Porteous M.E., Ahmed M., Morrison P.J., Brennan P., Eeles R., Davidson R., Collee J.M., Cornelissen S., Couch F.J., Cox A., Cross S.S., Cybulski C., Czene K., Daly M.B., de la Hoya M., Devilee P., Diez O., Ding Y.C., Dite G.S., Domchek S.M., Dork T., dos-Santos-Silva I., Droit A., Dubois S., Dumont M., Duran M., Durcan L., Dwek M., Eccles D.M., Engel C., Eriksson M., Evans D.G., Fasching P.A., Fletcher O., Floris G., Flyger H., Foretova L., Foulkes W.D., Friedman E., Fritschi L., Frost D., Gabrielson M., Gago-Dominguez M., Gambino G., Ganz P.A., Gapstur S.M., Garber J., Garcia-Saenz J.A., Gaudet M.M., Georgoulias V., Giles G., Glendon G., Godwin A.K., Goldberg M.S., Goldgar D.E., Gonzalez-Neira A., Tibiletti M.G., Greene M.H., Grip M., Gronwald J., Grundy A., Guenel P., Hahnen E., Haiman C.A., Hakansson N., Hall P., Hamann U., Harrington P.A., Hartikainen J.M., Hartman M., He W., Healey C.S., Heemskerk-Gerritsen B.A.M., Heyworth J., Hillemanns P., Hogervorst F.B.L., Hollestelle A., Hooning M., Hopper J., Howell A., Huang G., Hulick P.J., Imyanitov E.N., Sexton A., Christian A., Trainer A., Spigelman A., Fellows A., Shelling A., Fazio A.D., Blackburn A., Crook A., Meiser B., Patterson B., Clarke C., Saunders C., Hunt C., Amor D., Marsh D., Edkins E., Salisbury E., Haan E., Neidermayr E., Macrea F., Farshid G., Lindeman G., Trench G., Mann G., Gill G., Thorne H., Hickie I., Winship I., Flanagan J., Kollias J., Visvader J., Stone J., Burke J., Saunus J., Forbes J., French J., Tucker K., Wu K., Phillips K., Lipton L., Andrews L., Lobb L., Kentwell M., Spurdle M., Cummings M., Gleeson M., Jenkins M., Young M.A., Delatycki M., Wallis M., Burgess M., Price M., Brown M., Southey M., Bogwitz M., Field M., Friedlander M., Gattas M., Saleh M., Hayward N., Pachter N., Cohen P., Duijf P., James P., Simpson P., Fong P., Butow P., Williams R., Kefford R., Scott R., Milne R.L., Balleine R., Dawson S.-J., Lok S., O'Connell S., Greening S., Nightingale S., Edwards S., Fox S., McLachlan S.-A., Lakhani S., Antill Y., Aalfs C., Meijers-Heijboer H., van Engelen K., Gille H., Boere I., Collee M., van Deurzen C., Obdeijn I.-M., van den Ouweland A., Seynaeve C., Siesling S., Verloop J., van Asperen C., van Cronenburg T., Blok R., de Boer M., Garcia E.G., Adank M., Hogervorst F., Jenner D., van Leeuwen F., Rookus M., Russell N., Schmidt M., van den Belt-Dusebout S., Kets C., Mensenkamp A., de Bock T., van der Hout A., Mourits M., Oosterwijk J., Ausems M., Koudijs M., Baxter R., Yip D., Carpenter J., Davis A., Pathmanathan N., Graham D., Sachchithananthan M., Isaacs C., Iwasaki M., Jager A., Jakimovska M., Jakubowska A., Janavicius R., Jankowitz R.C., John E.M., Johnson N., Jones M.E., Jukkola-Vuorinen A., Jung A., Kaaks R., Kang D., Kapoor P.M., Karlan B.Y., Keeman R., Kerin M.J., Khusnutdinova E., Kiiski J.I., Kirk J., Kitahara C.M., Ko Y.-D., Konstantopoulou I., Kosma V.-M., Koutros S., Kubelka-Sabit K., Kwong A., Kyriacou K., Laitman Y., Lambrechts D., Lee E., Leslie G., Lester J., Lesueur F., Lindblom A., Lo W.-Y., Long J., Lophatananon A., Loud J.T., Lubinski J., MacInnis R.J., Maishman T., Makalic E., Mannermaa A., Manoochehri M., Manoukian S., Margolin S., Martinez M.E., Matsuo K., Maurer T., Mavroudis D., Mayes R., McGuffog L., McLean C., Meindl A., Miller A., Miller N., Montagna M., Moreno F., Muir K., Mulligan A.M., Munoz-Garzon V.M., Muranen T.A., Narod S.A., Nassir R., Nathanson K.L., Neuhausen S.L., Nevanlinna H., Neven P., Nielsen F.C., Nikitina-Zake L., Norman A., Offit K., Olah E., Olopade O.I., Olsson H., Orr N., Osorio A., Pankratz V.S., Papp J., Park S.K., Park-Simon T.-W., Parsons M.T., Paul J., Pedersen I.S., Peissel B., Peshkin B., Peterlongo P., Peto J., Plaseska-Karanfilska D., Prajzendanc K., Prentice R., Presneau N., Prokofyeva D., Pujana M.A., Pylkas K., Radice P., Canzian F., Rantala J., Rau-Murthy R., Rennert G., Risch H.A., Robson M., Romero A., Rossing M., Saloustros E., Sanchez-Herrero E., Sandler D.P., Santamarina M., Sawyer E.J., Scheuner M.T., Schmidt D.F., and Schmutzler R.K.
- Abstract
Genome-wide association studies have identified breast cancer risk variants in over 150 genomic regions, but the mechanisms underlying risk remain largely unknown. These regions were explored by combining association analysis with in silico genomic feature annotations. We defined 205 independent risk-associated signals with the set of credible causal variants in each one. In parallel, we used a Bayesian approach (PAINTOR) that combines genetic association, linkage disequilibrium and enriched genomic features to determine variants with high posterior probabilities of being causal. Potentially causal variants were significantly over-represented in active gene regulatory regions and transcription factor binding sites. We applied our INQUSIT pipeline for prioritizing genes as targets of those potentially causal variants, using gene expression (expression quantitative trait loci), chromatin interaction and functional annotations. Known cancer drivers, transcription factors and genes in the developmental, apoptosis, immune system and DNA integrity checkpoint gene ontology pathways were over-represented among the highest-confidence target genes.Copyright © 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.
- Published
- 2020
16. Clinical and molecular characterization of 1253 carriers of a deleterious CHEK2 mutation from the German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC)
- Author
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Habhab, W., Faust, U., Guenther, G., Siebers-Renelt, U., Kiechle, M., Ott, C., Dikow, N., Kast, K., Vesper, A., Solbach, C., Harbeck, N., Stiller, M., Gehrig, A., Thomssen, C., Wallaschek, H., Arnold, N., Holzhauser, I., Kaulfuss, S., Volk, A., Janni, W., Engel, C., Schmutzler, R., Riess, O., Schroeder, C., Bosse, K., Habhab, W., Faust, U., Guenther, G., Siebers-Renelt, U., Kiechle, M., Ott, C., Dikow, N., Kast, K., Vesper, A., Solbach, C., Harbeck, N., Stiller, M., Gehrig, A., Thomssen, C., Wallaschek, H., Arnold, N., Holzhauser, I., Kaulfuss, S., Volk, A., Janni, W., Engel, C., Schmutzler, R., Riess, O., Schroeder, C., and Bosse, K.
- Published
- 2020
17. Design of high affinity cyclic pentapeptide ligands for κ-opioid receptors
- Author
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Przydzial, M. J., Pogozheva, I. D., Ho, J. C., Bosse, K. E., Sawyer, E., Traynor, J. R., and Mosberg, H. I.
- Published
- 2005
18. Roles of residues 3 and 4 in cyclic tetrapeptide ligand recognition by the κ-opioid receptor
- Author
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Przydzial, M. J., Pogozheva, I. D., Bosse, K. E., Andrews, S. M., Tharp, T. A., Traynor, J. R., and Mosberg, H. I.
- Published
- 2005
19. Unbalanced translocation 8;Y (45,X,dic(Y;8)(q11.23;p23.1)): case report and review of terminal 8p deletions
- Author
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Bosse, K., Eggermann, T., Van der Ven, K., Raff, R., Engels, H., and Schwanitz, G.
- Published
- 2004
- Full Text
- View/download PDF
20. Pathogene BARD1 -Varianten – doch Ovarialkarzinom-assoziiert?
- Author
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Bosse, K., Faust, U., Stäbler, A., Gauß, S., Hinojosa Amaya, A., Voreck, S., Liebmann, A., Witt, D., Gruber, I., Engler, T., Hartkopf, A., Brucker, S., Dufke, A., Rieß, O., and Schroeder, C.
- Published
- 2024
- Full Text
- View/download PDF
21. FDA-regulated research: cellular therapy considerations
- Author
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Bosse, K., primary, Watts, M.C., additional, Shilling, C., additional, Jewell, L., additional, O'Donnell, L., additional, and Lee, D.A., additional
- Published
- 2019
- Full Text
- View/download PDF
22. Das invasiv lobuläre Mammakarzinom in der klinischen Routine: Eine klinische prospektive Kohortenstudie an einem universitären Brustzentrum
- Author
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Oberlechner, E, additional, Röhm, C, additional, Helms, G, additional, Boeer, B, additional, Bosse, K, additional, Fugunt, R, additional, Gall, C, additional, Grischke, EM, additional, Gruber, I, additional, Hartkopf, A, additional, Hoffmann, S, additional, Hoopmann, U, additional, Preibsch, H, additional, Warzecha, H, additional, Staebler, A, additional, Taran, A, additional, Brucker, S, additional, Wallwiener, D, additional, and Hahn, M, additional
- Published
- 2019
- Full Text
- View/download PDF
23. Case report: Primärmanifestation eines diffusen großzelligen B-Zell- Lymphoms in der Mamma
- Author
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Sandru, M, additional, Bosse, K, additional, Röhm, C, additional, Fugunt, R, additional, Böer, B, additional, Hoopmann, U, additional, Gruber, I, additional, Helms, G, additional, Ott, C, additional, Gürgan, S, additional, Burow, H, additional, Oberlechner, E, additional, Hartkopf, A, additional, Taran, FA, additional, and Hahn, M, additional
- Published
- 2019
- Full Text
- View/download PDF
24. RAD51C als weiteres Hochrisiko-Gen für familiären Brust- und Eierstockkrebs identifiziert
- Author
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Bosse, K.
- Published
- 2011
- Full Text
- View/download PDF
25. Prädiktive Testung bei Familienangehörigen von BRCA1, BRCA2 und CHEK2 Mutationsträgerinnen am Universitätsbrustzentrum Tübingen – eine klinische retrospektive unizentrische Kohortenstudie
- Author
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Bosse, K, additional, Oberlechner, E, additional, Hoffmann, A, additional, Fugunt, R, additional, Böer, B, additional, Gruber, I, additional, Helms, G, additional, Hoopmann, U, additional, Röhm, C, additional, Hartkopf, A, additional, Komoss, S, additional, Faust, U, additional, Pohle, A, additional, Dufke, A, additional, Nguyen, H, additional, Kehrer, M, additional, Schroeder, C, additional, Heinrich, T, additional, Rieß, O, additional, Staebler, A, additional, Vogel, U, additional, Taran, FA, additional, Brucker, SY, additional, Marx, M, additional, Wallwiener, D, additional, and Hahn, M, additional
- Published
- 2018
- Full Text
- View/download PDF
26. Corrigendum to “Endothelial nitric oxide signaling regulates Notch1 in aortic valve disease” [J. Mol. Cell. Cardiol. 60 (2013) 27–35]
- Author
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Bosse, K., primary, Hans, C.P., additional, Zhao, N., additional, Koenig, S.N., additional, Huang, N., additional, Guggilam, A., additional, LaHaye, S., additional, Tao, G., additional, Lucchesi, P.A., additional, Lincoln, J., additional, Lilly, B., additional, and Garg, V., additional
- Published
- 2018
- Full Text
- View/download PDF
27. Truncating variants in DNA-repair genes and their effect on AAO of hereditary breast cancer
- Author
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Sepahi, I, additional, Faust, U, additional, Sturm, M, additional, Bosse, K, additional, Kehrer, M, additional, Heinrich, T, additional, Grundman-Hauser, K, additional, Bauer, P, additional, Ossowski, S, additional, Susak, H, additional, Bick, U, additional, Schröck, E, additional, Niederacher, D, additional, Auber, B, additional, Sutter, C, additional, Arnold, N, additional, Hahnen, E, additional, Dworniczak, B, additional, Wang-Gorke, S, additional, Gehrig, A, additional, Weber, BHF, additional, Engel, C, additional, Lemke, J, additional, Huu Phuc Nguyen, H, additional, Riess, O, additional, and Schroeder, C, additional
- Published
- 2018
- Full Text
- View/download PDF
28. Über die Persönlichkeitsstruktur des Psoriatikers: Zur Möglichkeit und Notwendigkeit einer differentiellen Psychodiagnostik bei psychosomatischen Fragestellungen
- Author
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Hünecke, P. and Bosse, K.
- Published
- 1985
29. Kardiologie II
- Author
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Höpp, H.-W., Hombach, V., Kebbel, U., Winter, U. J., Osterspey, A., Hirche, H. J., Hilger, H. H., Treis, I., Nitsch, J., Luderitz, B., v. Olshausen, K., Schwarz, F., Mehmel, H. C., Kübler, W., Gonska, B.-D., Wagner, H., Bethge, K.-P., Bosse, K., Kreuzer, H., Miehlke, Klaus, editor, and Bergmann, J. F.
- Published
- 1984
- Full Text
- View/download PDF
30. Psychosomatische Therapieansätze im Rahmen der stationären Therapie Hautkranker — Bilanz einer interdisziplinären Zusammenarbeit
- Author
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Bosse, K., Hünecke, P., and Schüffel, Wolfram, editor
- Published
- 1988
- Full Text
- View/download PDF
31. Kurze wissenschaftliche Mitteilungen zum III. Thema, Podiumsgespräch mit Diskussion der Referate und Kurzvorträge : Samstag, den 2. Oktober 1965 Nachmittags
- Author
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Braun-Falco, O., Carrié, C., Chmel, L., Frühwald, O., Götz, H., Greither, A., Konopik, J., Klosteemann, G. F., Jörgensen, G., Bosse, K., Petzoldt, D., Friederich, H. C., Farkas, L., Andreassi, L., Thies, W., Braun-Falco, O., editor, Gans, O., editor, Kimmig, J., editor, Korting, G. W., editor, Schönfeld, W., editor, Bode, H. G., editor, Gottron, H., editor, Hellerström, S., editor, Herrmann, F., editor, Kalkoff, K. W., editor, Rost, G. A., editor, Siemens, H. W., editor, Spier, H. W., editor, and Wiedmann, A., editor
- Published
- 1966
- Full Text
- View/download PDF
32. Vierte wissenschaftliche Sitzung : Samstag, den 2. Oktober 1965 Vormittags
- Author
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Kalkoff, K. W., Steigleder, G. K., Siemens, K. W., Schreus, H. Th., Keller, Ph., Kuske, H., Wezel, H., Bandmann, H.-J., Bosse, K., Niebauer, G., Braun-Falco, O., Herzberg, J. J., Ludwig, E., Gertler, W., Söltz-Szöts, J., Jadassohn, W., Braun-Falco, O., editor, Gans, O., editor, Kimmig, J., editor, Korting, G. W., editor, Schönfeld, W., editor, Bode, H. G., editor, Gottron, H., editor, Hellerström, S., editor, Herrmann, F., editor, Kalkoff, K. W., editor, Rost, G. A., editor, Siemens, H. W., editor, Spier, H. W., editor, and Wiedmann, A., editor
- Published
- 1966
- Full Text
- View/download PDF
33. SATELLITE OBSERVED WATER QUALITY CHANGES IN THE LAURENTIAN GREAT LAKES DUE TO INVASIVE SPECIES, ANTHROPOGENIC FORCING, AND CLIMATE CHANGE
- Author
-
Shuchman, R. A., primary, Bosse, K. R., additional, Sayers, M. J., additional, Fahnenstiel, G. L., additional, and Leshkevich, G., additional
- Published
- 2017
- Full Text
- View/download PDF
34. Seltene Sonderformen des Mammakarzinoms – eine retrospektive Analyse am Universitäts-Brustzentrum Tübingen
- Author
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Oberlechner, E, additional, Brändle, J, additional, Hoopmann, U, additional, Bosse, K, additional, Boer, B, additional, Fugunt, R, additional, Gall, C, additional, Gruber, I, additional, Hartkopf, A, additional, Helms, G, additional, Hoffmann, S, additional, Kommoss, S, additional, Röhm, C, additional, Staebler, A, additional, Vogel, U, additional, Brucker, S, additional, Wallwiener, D, additional, and Hahn, M, additional
- Published
- 2017
- Full Text
- View/download PDF
35. Häufigkeit der „erblichen Belastung für Brust- und Eierstockkrebs“ bei Patientinnen mit Mammakarzinom am Brustzentrum der Universitätsfrauenklinik Tübingen
- Author
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Bosse, K, additional, Rau, L, additional, Boer, B, additional, Fugunt, R, additional, Gall, C, additional, Gruber, I, additional, Hartkopf, A, additional, Helms, G, additional, Hoffmann, S, additional, Hoopmann, U, additional, Kommoss, S, additional, Röhm, C, additional, Grischke, EM, additional, Nguyen, H, additional, Faust, U, additional, Doehring, A, additional, Rieß, O, additional, Staebler, A, additional, Vogel, U, additional, Brucker, S, additional, Hahn, M, additional, Wallwiener, D, additional, and Oberlechner, E, additional
- Published
- 2017
- Full Text
- View/download PDF
36. Lateralität beim Mammakarzinom – ein Prognosefaktor? Eine retrospektive Analyse am Universitäts-Brustzentrum Tübingen
- Author
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Oberlechner, E, additional, Gruber, I, additional, Hoopmann, U, additional, Brändle, J, additional, Boer, B, additional, Fugunt, R, additional, Gall, C, additional, Helms, G, additional, Röhm, C, additional, Hartkopf, A, additional, Kommoss, S, additional, Krämer, B, additional, Bosse, K, additional, Wiesinger, B, additional, Staebler, A, additional, Vogel, U, additional, Brucker, S, additional, Wallwiener, D, additional, and Hahn, M, additional
- Published
- 2017
- Full Text
- View/download PDF
37. Isolated recessive nail dysplasia caused byFZD6mutations: report of three families and review of the literature
- Author
-
Kasparis, C., primary, Reid, D., additional, Wilson, N. J., additional, Okur, V., additional, Cole, C., additional, Hansen, C. D., additional, Bosse, K., additional, Betz, R. C., additional, Khan, M., additional, and Smith, F. J. D., additional
- Published
- 2016
- Full Text
- View/download PDF
38. Häufigkeit der „erblichen Belastung für Brust- und Eierstockkrebs“ bei Patientinnen mit Mammakarzinom am Brustzentrum der Universitätsfrauenklinik Tübingen
- Author
-
Bosse, K, primary, Jordan, L, additional, Gruber, I, additional, Hartkopf, A, additional, Helms, G, additional, Röhm, C, additional, Grischke, EM, additional, Hahn, M, additional, Brucker, S, additional, Wallwiener, D, additional, and Oberlechner, E, additional
- Published
- 2016
- Full Text
- View/download PDF
39. Hereditäres HBOC-Risikoscreening bei Mammakarzinompatienten – eine prospektive Kohortenstudie
- Author
-
Oberlechner, E, primary, Bosse, K, additional, Jordan, L, additional, Gruber, I, additional, Hartkopf, A, additional, Helms, G, additional, Röhm, C, additional, Grischke, EM, additional, Kommoss, S, additional, Nguyen, H, additional, Rieß, O, additional, Staebler, A, additional, Vogel, U, additional, Brucker, S, additional, Wallwiener, D, additional, and Hahn, M, additional
- Published
- 2016
- Full Text
- View/download PDF
40. Einfluß von gravidität und lactation auf den faarwuchs der maus
- Author
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Franz, E. and Bosse, K.
- Published
- 1975
- Full Text
- View/download PDF
41. Amiodarontherapie — Verhalten von Serum- und Fettgewebskonzentrationen
- Author
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Gonska, B. -D., Bethge, K. -P., Wagner, H., Bosse, K., Köbberling, J., Quentin, C. -D., and Kreuzer, H.
- Published
- 1986
- Full Text
- View/download PDF
42. Der Sauerstoffverbrauch des spontanen und künstlich induzierten Hautcyclus zu verschiedenen Tageszeiten
- Author
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Franz, E., Bosse, K., and Beck, B.
- Published
- 1978
- Full Text
- View/download PDF
43. Über den Hautcyclus einer neuen Spontanmutante (Nackig) mit mangelhafter Haarkeratinisierung bei der Maus
- Author
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Franz, E., Bosse, K., and Kreutzer, E.
- Published
- 1978
- Full Text
- View/download PDF
44. Zur Biologie des Haarwachstums
- Author
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Bosse, K.
- Published
- 1966
- Full Text
- View/download PDF
45. Die Beziehungen zwischen der Trichophyton mentagrophytes-Infektion und dem Haarcyclus beim Meerschweinchen
- Author
-
Bosse, K., Krempl-Lamprecht, L., Burzynski, Z., and Kostanecki, W.
- Published
- 1964
- Full Text
- View/download PDF
46. Die Wirkung von Dehydroepiandrosteron-Sulfat auf das Haarwachstum der Maus und des Meerschweinchens
- Author
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Bosse, K., Fehr, R., Franz, E., and Wiontzek, H. -J.
- Published
- 1972
- Full Text
- View/download PDF
47. Histologie des Mückenstiches (Aedes aegypti)
- Author
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Bandmann, H. -J. and Bosse, K.
- Published
- 1967
- Full Text
- View/download PDF
48. Der Haarwechsel des Säuglings
- Author
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Bosse, K. and Rubisz-Brzezińska, J.
- Published
- 1965
- Full Text
- View/download PDF
49. Der Einfluß des 16-Epioestriol auf den Hautcyclus der Maus
- Author
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Kostanecki, W., Bosse, K., and Krempl-Lamprecht, L.
- Published
- 1963
- Full Text
- View/download PDF
50. Lokalisation und carcinogenese am Beispiel der Epitheliome der tiere
- Author
-
Bosse, K.
- Published
- 1964
- Full Text
- View/download PDF
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