Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Weber Bernhard HF"'
Publikováno v:
BMC Evolutionary Biology, Vol 10, Iss 1, p 319 (2010)
Abstract Background The anoctamin family of transmembrane proteins are found in all eukaryotes and consists of 10 members in vertebrates. Ano1 and ano2 were observed to have Ca2+ activated Cl- channel activity. Recent findings however have revealed t
Externí odkaz:
https://doaj.org/article/3d3cec473e0e441f84a05ccc62777980
Autor:
Varon-Mateeva Raymonda, Arnold Norbert, Niederacher Dieter, Weber Bernhard HF, Bugert Peter, Ditsch Nina, Sutter Christian, Hemminki Kari, Rae Jimmy M, Skaar Todd C, McGuire Sean E, Wang Jay, Richter Alexandra S, Tchatchou Sandrine, Hartmaier Ryan J, Wappenschmidt Barbara, Schmutzler Rita K, Meindl Alfons, Bartram Claus R, Burwinkel Barbara, Oesterreich Steffi
Publikováno v:
BMC Cancer, Vol 9, Iss 1, p 438 (2009)
Abstract Background Coregulator proteins are "master regulators", directing transcriptional and posttranscriptional regulation of many target genes, and are critical in many normal physiological processes, but also in hormone driven diseases, such as
Externí odkaz:
https://doaj.org/article/a442382ef14d42a1a788474b154a1bda
Publikováno v:
BMC Evolutionary Biology, Vol 8, Iss 1, p 72 (2008)
Abstract Background Mutations in human bestrophin 1 are associated with at least three autosomal-dominant macular dystrophies including Best disease, adult onset vitelliform macular dystrophy and autosomal dominant vitreo-retinochoroidopathy. The pro
Externí odkaz:
https://doaj.org/article/e8c496c0ca3241e885ef170edcab9fc1
Publikováno v:
BMC Genomics, Vol 5, Iss 1, p 50 (2004)
Abstract Background The mammalian retina is a valuable model system to study neuronal biology in health and disease. To obtain insight into intrinsic processes of the retina, great efforts are directed towards the identification and characterization
Externí odkaz:
https://doaj.org/article/01da8ec299e54864a0851f52f152d0b7
Autor:
Dumont, Martine, Weber-Lassalle, Nana, Joly-Beauparlant, Charles, Ernst, Corinna, Droit, Arnaud, Feng, Bing-Jian, Dubois, Stéphane, Collin-Deschesnes, Annie-Claude, Soucy, Penny, Vallée, Maxime, Fournier, Frédéric, Lemaçon, Audrey, Adank, Muriel A, Allen, Jamie, Altmüller, Janine, Arnold, Norbert, Ausems, Margreet GEM, Berutti, Riccardo, Bolla, Manjeet K, Bull, Shelley, Carvalho, Sara, Cornelissen, Sten, Dufault, Michael R, Dunning, Alison M, Engel, Christoph, Gehrig, Andrea, Geurts-Giele, Willemina RR, Gieger, Christian, Green, Jessica, Hackmann, Karl, Helmy, Mohamed, Hentschel, Julia, Hogervorst, Frans BL, Hollestelle, Antoinette, Hooning, Maartje J, Horváth, Judit, Ikram, M Arfan, Kaulfuß, Silke, Keeman, Renske, Kuang, Da, Luccarini, Craig, Maier, Wolfgang, Martens, John WM, Niederacher, Dieter, Nürnberg, Peter, Ott, Claus-Eric, Peters, Annette, Pharoah, Paul DP, Ramirez, Alfredo, Ramser, Juliane, Riedel-Heller, Steffi, Schmidt, Gunnar, Shah, Mitul, Scherer, Martin, Stäbler, Antje, Strom, Tim M, Sutter, Christian, Thiele, Holger, Van Asperen, Christi J, Van Der Kolk, Lizet, Van Der Luijt, Rob B, Volk, Alexander E, Wagner, Michael, Waisfisz, Quinten, Wang, Qin, Wang-Gohrke, Shan, Weber, Bernhard HF, Genome Of The Netherlands Project, Ghs Study Group, Devilee, Peter, Tavtigian, Sean, Bader, Gary D, Meindl, Alfons, Goldgar, David E, Andrulis, Irene L, Schmutzler, Rita K, Easton, Douglas F, Schmidt, Marjanka K, Hahnen, Eric, Simard, Jacques
Publikováno v:
Genome of the Netherlands Project & GHS Study Group 2022, ' Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry ', Cancers, vol. 14, no. 14, 3363 . https://doi.org/10.3390/cancers14143363
Cancers 14(14), 3363 (2022). doi:10.3390/cancers14143363 special issue: "Hereditary Breast Cancer in Men and Women: Genetic Mutations, Cancer Risk and Treatment"
Cancers; Volume 14; Issue 14; Pages: 3363
Cancers, 14(14):3363. Multidisciplinary Digital Publishing Institute (MDPI)
Cancers 14:3363 (2022)
Cancers, 14(14). MDPI
Cancers 14(14), 3363 (2022). doi:10.3390/cancers14143363 special issue: "Hereditary Breast Cancer in Men and Women: Genetic Mutations, Cancer Risk and Treatment"
Cancers; Volume 14; Issue 14; Pages: 3363
Cancers, 14(14):3363. Multidisciplinary Digital Publishing Institute (MDPI)
Cancers 14:3363 (2022)
Cancers, 14(14). MDPI
Simple Summary Genetic variants explaining approximately 40% of familial breast cancer risk have been identified, thus leaving a significant fraction of the heritability of this disease still unexplained. The exact nature of this missing fraction is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a54770ad7b1420b818d896882095ad9
https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/28176
https://opus.bibliothek.uni-wuerzburg.de/frontdoor/index/index/docId/28176
Autor:
Li, Shuai, Silvestri, Valentina, Leslie, Goska, Rebbeck, Timothy R, Neuhausen, Susan L, Hopper, John L, Nielsen, Henriette Roed, Lee, Andrew, Yang, Xin, McGuffog, Lesley, Parsons, Michael T, Andrulis, Irene L, Arnold, Norbert, Belotti, Muriel, Borg, Åke, Buecher, Bruno, Buys, Saundra S, Caputo, Sandrine M, Chung, Wendy K, Colas, Chrystelle, Colonna, Sarah V, Cook, Jackie, Daly, Mary B, de la Hoya, Miguel, de Pauw, Antoine, Delhomelle, Hélène, Eason, Jacqueline, Engel, Christoph, Evans, D Gareth, Faust, Ulrike, Fehm, Tanja N, Fostira, Florentia, Fountzilas, George, Frone, Megan, Garcia-Barberan, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Gehrig, Andrea, Glendon, Gord, Goldgar, David E, Golmard, Lisa, Greene, Mark H, Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hassan, Tiara, Hentschel, Julia, Horvath, Judit, Izatt, Louise, Janavicius, Ramunas, Jiao, Yue, John, Esther M, Karlan, Beth Y, Kim, Sung-Won, Konstantopoulou, Irene, Kwong, Ava, Laugé, Anthony, Lee, Jong Won, Lesueur, Fabienne, Mebirouk, Noura, Meindl, Alfons, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Ngeow Yuen Yie, Joanne, Niederacher, Dieter, Park, Sue K, Pedersen, Inge Sokilde, Ramser, Juliane, Ramus, Susan J, Rantala, Johanna, Rashid, Muhammad U, Reichl, Florian, Ritter, Julia, Rump, Andreas, Santamariña, Marta, Saule, Claire, Schmidt, Gunnar, Schmutzler, Rita K, Senter, Leigha, Shariff, Saba, Singer, Christian F, Southey, Melissa C, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen, Teo, Soo Hwang, Terry, Mary Beth, Thomassen, Mads, Tischkowitz, Marc, Toland, Amanda E, Torres, Diana, Vega, Ana, Wagner, Sebastian A, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weber, Bernhard HF, Yannoukakos, Drakoulis, Spurdle, Amanda B, Easton, Douglas F, Chenevix-Trench, Georgia
Publikováno v:
Journal of clinical oncology : official journal of the American Society of Clinical Oncology, vol 40, iss 14
PurposeTo provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and BRCA2 for effective cancer risk management.MethodsWe used data from 3,184 BRCA1 and 2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::18e8778c733a8ea137f0ef2f0dcce65e
https://escholarship.org/uc/item/87h8h3x8
https://escholarship.org/uc/item/87h8h3x8
Autor:
Grassmann, Felix, Kiel, Christina, Zimmermann, Martina E, Gorski, Mathias, Grassmann, Veronika, Stark, Klaus, International AMD Genomics Consortium (IAMDGC), Heid, Iris M, Weber, Bernhard HF
Publikováno v:
Genome Medicine
Genome medicine, vol 9, iss 1
Genome Medicine, Vol 9, Iss 1, Pp 1-13 (2017)
Genome medicine, vol 9, iss 1
Genome Medicine, Vol 9, Iss 1, Pp 1-13 (2017)
Background Age-related macular degeneration (AMD) is a common condition of vision loss with disease development strongly influenced by environmental and genetic factors. Recently, 34 loci were associated with AMD at genome-wide significance. So far,
Autor:
Grassmann, Felix, Bergholz, Richard, Mändl, Julia, Jägle, Herbert, Ruether, Klaus, Weber, Bernhard HF
Publikováno v:
BMC Ophthalmology; 2015, Vol. 15 Issue 1, p18-24, 7p, 3 Charts
Autor:
Krämer, Franziska, White, Karen, Pauleikhoff, Daniel, Gehrig, Andrea, Passmore, Lori, Rivera, Andrea, Rudolph, Günther, Kellner, Ulrich, Andrassi, Monika, Lorenz, Birgit, Rohrschneider, Klaus, Blankenagel, Anita, Jurklies, Bernhard, Schilling, Harald, Schütt, Florian, Holz, Frank G, Weber, Bernhard HF
Publikováno v:
European Journal of Human Genetics; Apr2000, Vol. 8 Issue 4, p286, 7p
Autor:
Gehrig, Andrea, White, Karen, Lorenz, Birgit, Andrassi, Monika, Clemens, Stefan, Weber, Bernhard Hf
Publikováno v:
Clinical Genetics; Jun99, Vol. 55 Issue 6, p461-465, 5p