Results 21 to 30 of about 4,011,809 (261)
DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers. [PDF]
, 2014 Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be
associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and BRCA2, given the relation of ...Backes, F.J. (Floor), Van Os, Theo A.M., Volorio, Sara, Kast Karin, Muy-Kheng Tea, Barrowdale, D., Aittomaki, K., Douglas, F., Konstantopoulou, I. (I.), Investigators, K, Raymonda Varon Mateeva, Barrowdale Daniel, van der Kolk, Lizet, Lucia Guidugli (547067), Conxi Lázaro (142579), Viel, Alessandra, Heli Nevanlinna, Yuan Chun Ding (322601), de la Hoya, Miguel, A. H. van der Hout (547063), Andrew K. Godwin, Georgia Chenevix-Trench (361), Rita Katharina Schmutzler (395199), Christine Maugard (91027), Paolo Peterlongo, Kerstin Rhiem (112049), Bonanni, Bernardo, Arnold, N, Sinilnikova, O. M., Tischkowitz Marc, van Asperen, Christi J., Konstantopoulou Irene, Arver, Brita, Andreas Berger, Niederacher, D, Teulé Alex, Lubinski, Jan, Kolk, L.E. (Lizet) van der, SWE-BRCA (154081), Marco Montagna (238698), Brewer, C., Sabine Preisler-Adams (395251), Mulligan, A.M., Nathanson Katherine, Osorio, A, Antonis C. Antoniou, Esther M John, Susan Slager (547068), Mazoyer, S, Evans, D.G. (Gareth), Blanco, I, Jonson, L, Benítez, J. (Javier), Irene Konstantopoulou, Lee, A, Christian F. Singer (308365), Moreno, L. T., Steele, L. (Linda), Platte, Radka, Cybulski, C, Stoppa-Lyonnet Dominique, Tibiletti, MG, Mariette, Frederique, Greene Mark H., Pita, G., Jan Lubinski (59925), J L de Lange, Susan L Neuhausen, et al., Ignacio Blanco, Investigators kConFab, Donaldson, A, J. L. De Lange, Eeles, R., Andrea Gehrig, Vijai, J. (Joseph), Milne, Roger L, Schmutzler Rita Katharina, Varon-Mateeva, R, Olopade, O.I., Kruse, Torben A, Maria Grazia Tibiletti (395246), Ros Eeles, Mariette Frederique, Hans Jörg Plendl (547055), Ramon, Y. Cajal T., Kristiina Aittomäki (89889), Montagna, M., van Asperen, C. J., Brewster, Wendy, Soucy, Penny, Claes Kathleen, Mai Phuong L., Zhang, Liying, Raymonda Varon-Mateeva, Jønson, L. (Lars), Swe-Brca, Swe-Brca, Simard, J. (Jacques), Cybulski, Cezary, Moreno, L.T. (Leticia Thais), Buys, SS, Manoukian, S. (Siranoush), Kruse, T.A., Berger, A., Porteous, M.E. (Mary), Johannsson, Oskar Th, Robson, Mark, Tereza Vaclová (547037), Sue Healey, Arver Brita, Katherine Nathanson, Gerdes, Anne-Marie, Arun, B.K. (Banu), Rookus, M. A., Hansen Thomas v. O., Janavicius, R, Morrison, Patrick J., Godwin, Andrew K, Christian Sutter, Meindl, A, Menéndez, M, de la Hoya Miguel, Mai, Phuong L, Pfeiler, G. (Georg), Collée, J. Margriet, Szabo, C.I., Kathleen Claes (203063), Andrés Conejero Raquel, Pederson, Inge Sokilde, Evans, Gareth; id_orcid, Ehrencrona, Hans, Melissa Southey (81752), Sinilnikova Olga M., Karin Kast (112042), Varesco Liliana, Southey, Melissa C., Lars Jønson (395270), Milne, RL, Inge Sokilde Pedersen, Brewster, W., Ellis, S, Anna Marie Mulligan (146672), De Lange, J.L., Tucker, K., Thomassen, M. (Mads), Domchek, SM, Pita, G. (Guillermo), Douglas F. Easton (89956), Rutherford, T. (Thomas), Catherine M. Phelan (219497), Lee, A. (Andrew), Andrulis, I.L. (Irene), Slager, S., Ellis, S.D. (Steve), Marc Tischkowitz, Weeman, Kisa, Szabo, Csilla I, Anders Bojesen, Laitman, Y., Gehrig, P.A. (Paola A.), Manuel R. Teixeira, Evans Gareth, Sutter, C., Anne-Marie Gerdes, Van der Hout, A.H., Mads Thomassen, Mazoyer, S., Eeles, Ros, McGuffog, L. (Lesley), Hans Ehrencrona (196663), van Asperen Christi J., Friedman Eitan, Fergus J Couch, Eitan Friedman (196582), Hansen, TV, Ding Yuan Chun, Terry, MB, Hansen, TVO, Rosario Alonso (547038), Antoniou, AC, Vijai, Joseph, Dorfling, C.M., Rosemarie Davidson, Olswold, C, Hansen, T.V.O., J Margriet Collée, Shan Wang-Gohrke (89910), Mary S Beattie, Adlard, Julian, Donaldson, A. (Alan), Frost, D, Silvia Tognazzo (395279), Cook, J., Patrick Morrison, Ottini, L, Karlan, BY, Díez Orland, Nicoline Hoogerbrugge, Schmutzler, R. K., Benitez, Javier, Papi, L., Shani Paluch Shimon, Berger Andreas, Volorio, S., Lee, A., Kisa Weeman, Jonson, L., Martínez-Bouzas, Christina, Ramón y Cajal Teresa, Mulligan, AM, Dieter Niederacher (93623), Caldes, T. (Trinidad), Izatt, Louise, Alice S Whittemore, Jenny Lester (395276), Pfeiler, Georg, Karoline Kuchenbaecker (547036), Beth Y. Karlan (184236), Tibiletti Maria Grazia, Sutter, C, Rosario Alonso, Wendy Brewster, Mar Infante (436090), Teresa Ramon Y. Cajal, Olswold, C. (Curtis), Durda, K., Mulligan, A. M., Encarna B. Gomez Garcia, Rensburg, E.J. (Elizabeth) van, Rutherford, T., Foo, Claire, Singer, Christian F, Norbert Arnold, Godwin, A.K. (Andrew), Theo A. M. van Os (395220), Peissel, Bernard, Blanco, I., Hopper John, Kennedy, J. (John), Saundra S. Buys, van der Luijt, RB, Díez, O. (Orland), Raymonda Varon-Mateeva (196729), van Os, Theo AM, Daphne Geschwantler Kaulich (547069), Rappaport Christine, Deurzen, C.H.M. (Carolien) van, Christine Maugard, Noah Kauff, Arun, Banu K, Trinidad Caldes, Peterlongo, P. (Paolo), Herzog, J. (Josef), Rookus, M.A. (Matti), Walsh, C, Scuvera, G, Jeffrey N. Weitzel (238722), Francesca Damiola, Daly, M.B. (Mary), Hansen, Thomas VO, Weeman Kisa, Banu K. Arun, Karin Kast, Hoya, M. (Miguel) de La, Olufunmilayo I. Olopade (151873), Trevor Cole (547049), Aittomäki, K, Scuvera Giulietta, Tengfei Yin (551977), Pedersen, IS, Bent Ejlertsen, Teule, A., Shimon, S. P., Rau-Murthy Rohini, Olah, E., Adlard Julian, Montagna, M, Ejlertsen, B, Anneliese Fink-Retter, Benitez Javier, Irene Andrulis, Beattie, MS, Johannsson, Oskar Th., Bruce Poppe (797), Kaulich, DG, Jackie Cook, Steinemann, D., van Deurzen, Carolien H. M., Barbara Wappenschmidt, Meindl, Alfons, Eitan Friedman, Timothy R. Rebbeck (230766), Olah, E, Soucy, P., Paolo Radice (146601), Thomassen Mads, Martínez-Bouzas, C, Rau-Murthy, R, van Os Theo A. M., Ramon Y Cajal, T., Preisler-Adams, S., Glendon, Gord, Conejero, R. Andres, Johanna Rantala, Greene, M.H., Nevanlinna, H., Hoya, M. de la, Lars Jønson, McGuffog, Lesley, Karlan, B. Y., Lazaro, C (Conxi), Katherine Nathanson (547041), Lee, Andrew, Shan Wang-Gohrke, Herzog, J, Jensen, UB, Walsh, C.S. (Christine), Duran Mercedes, Rantala Johanna, Theo A M van Os, Christian F. Singer, Olga M Sinilnikova, Steele, L, Platte, R, Meijers-Heijboer, H. E., Robson Mark, Rau-Murthy, Rohini, Singer, CF, Mary B Terry, Hanne E J Meijers-Heijboer, Blanco, Ignacio, Penny Soucy (21792), Steele, L., Susan M. Domchek, Whittemore, Alice S, Side, L. (Lucy), Meijers-Heijboer, E.J. (Hanne), Jensen Uffe Birk, Rappaport, C, Nathanson, Katherine, Szabo, C. I., Tea, Muy Kheng, Karlan, B.Y. (Beth), Brewster, W. (Wendy), Andrulis, I., Mark H. Greene, Fineberg, E. (Elena), Nevanlinna, H. (Heli), Sylvie Mazoyer, Thomas V O Hansen, Díez, Orland, J. Margriet Collee (89936), Dorfling, CM, Loman, N., Preisler-Adams, Sabine, Hansen, Thomas V O, Lizet van der Kolk (547061), Easton, D.F., Kathy Tucker, Sabine Preisler-Adams, Garber Judy, Johannson, O.T. (Oskar), Weitzel, J.N. (Jeffrey), Chenevix-Trench, G., Curtis Olswold (73571), Mary B. Terry (547042), Sinilnikova, O.M., Glendon, G, Ding, Y.C., Weitzel Jeffrey N., Anneliese Fink-Retter (395258), kConFab Investigators, Walsh Christine, Christoph Engel, Edith Olah (395204), Martínez-Bouzas, C. (Cristina), Kenneth Offit (63812), Catherine M. Phelan, Kauff, N., Rodríguez Gustavo, Poppe, B., Garcia, EBG, Zhang Liying, Cybulski, C., Wang-Gohrke, Shan, Elena Fineberg, Side, Lucy, Christi J van Asperen, Carole Brewer, Karlan, Beth Y, Piedmonte, M, van Rensburg, EJ, Scuvera, G., Kuchenbaecker Karoline, Marc Tischkowitz (395208), Olswald, Curtis, Shimon, SP, Josef Herzog (395277), Osorio, Ana, Offit, Kenneth, Debra Frost, Jaworska-Bieniek, K. (Katarzyna), Karoline Kuchenbaecker, Orland Diez (395209), Phuong L. Mai (238716), Mercedes Duran, Gustavo Rodriguez, van Rensburg, E.J., Teulé, A. (A.), Wang-Gohrke, S., Janavicius, Ramunas, Barrowdale, D, Steve Ellis, Kast, K., Soucy, P, Swe Brca, Durda Katarzyna, Domchek, S.M. (Susan), Beattie, M. S., Diana Eccles, Ramón Y Cajal, T, Elena Fineberg (395222), Olufunmilayo I. Olopade, Steinemann, Doris, Sara Volorio (255289), Mary Porteous (547050), Encarna B. Gómez García (154147), Melissa Southey, Leticia Thais Moreno, Josef Herzog, Nina Ditsch, Bojesen Anders, Terry, M. B., Peissel, B. (Bernard), Healey Sue, Neuhausen, Susan L., Christian Sutter (196732), Teresa Ramón Y Cajal, Olufunmilayo I Olopade, Davidson, R. (Rosemarie), Ehrencrona, Hans,, Engel Christoph, de Lange, JL, Hodgson, Shirley, Toland Amanda Ewart, Shirley Hodgson, Fineberg, E., Antoniou, Antonis C, Andrew Lee (74302), Trevor Cole, Olah Edith, Diana Eccles (154169), Ramon, Y.C.T., Volorio Sara, Alonso, Rosario, Konstantopoulou, I., Eccles, D., Patrick Morrison (547052), Volorio, S. (Sara), Olopade Olufunmilayo I., Susan Slager, Kristiina Aittomaki, Yannoukakos Drakoulis, Peterlongo Paolo, Pita, G, Mary B. Daly (196724), Damiola, F. (Francesca), Kruse, TA, Preisler-Adams, S, Weitzel, Jeffrey N, Daphne Geschwantler Kaulich, Lejbkowicz, F. (Flavio), Teixeira, M.R., Ellis, Steve, Yannoukakos, D. (Drakoulis), Kenneth Offit, Moreno, L.T., Mai, P.L., Claes, K. (Kathleen), Walker, Lisa, Menéndez, Mireia, Marion Piedmonte, Schmutzler, R.K. (Rita), Rebbeck Timothy R., de Lange, J. L., Susan M. Domchek (154078), Mai, P. L., Drakoulis Yannoukakos (4758), Elizabeth J. Van Rensburg, Easton, Douglas F, Robson, M., Teixeira, MR, van Rensburg, E. J., Christian F Singer, Chenevix-Trench, G, Th. Johannson, Oskar, Marion Piedmonte (238646), Norbert Arnold (112045), Mary S. Beattie, Plendl, Hansjoerg, Sunde Lone, Arver, B., Peter Devilee, Rhiem, K. (Kerstin), Terry Mary B., Belen Herraez, Gehrig, A, Dominique Stoppa Lyonnet, Geschwantler Kaulich, Daphne, Tognazzo Silvia, Meijers-Heijboer, Hanne EJ, Jaworska-Bieniek, K, Side Lucy, Healey, S., Jacques Simard, Devilee, Peter, Lalloo Fiona, Antoniou Antonis C., van Rensburg, Elizabeth J, Peissel, B., Tischkowitz, M., Toland, A.E. (Amanda), Raquel Andres Conejero, Phelan Catherine M., Glendon, G., Fergus J. Couch (146607), Gareth Evans (547048), de Lange, J L, Louise Izatt, Sara Volorio, Dorfling, Cecilia M, Antonis C. Antoniou (146788), Soucy Penny, van Rensburg Elizabeth J., Damiola, Francesca, Whittemore, A. S., Glendon, G. (Gord), Mary S. Beattie (395206), Osario, Ana, Tucker, K, Amanda Ewart Toland (164514), Wang-Gohrke Shan, Arnold Norbert, Couch, Fergus J., Rodríguez, G, Buys, Saundra S., Laitman, Y, Jaworska-Bieniek Katarzyna, Blanco Ignacio, Douglas, Fiona, Yannoukakos, D, Izatt, L. (Louise), Montagna, Marco, Duran, M, van Os, Theo A. M., Toland, AE, Douglas F Easton, Varesco, L. (Liliana), Szabo Csilla I., Manuel R. Teixeira (118886), van der Hout A. H., Muy-Kheng Tea (308359), Berger, A. (Annemarie), Gómez Garcia, Encarna B, Hansen, Thomas v. O., Doris Steinemann (214253), Tognazzo, S, Arun Banu K., Devilee, P. (Peter), Laura Ottini, Wakeley, K. (Katie), Weitzel, Jeffrey N., Torben A Kruse, Noah Kauff (395268), Plendl, Hans Jörg, Laura Papi, Hoogerbrugge, N., Maria Grazia Tibiletti, Benitez, J., Andrulis, Irene, Bent Ejlertsen (395269), Viel, A, Kuchenbaecker, K, Simard, J, Steinemann, D. (Doris), Milne, R. L., van der Luijt, R. B., Meindl Alfons, Kuchenbaecker, Karoline, Lindor, N., Daniela Zaffaroni (547046), Olga M. Sinilnikova (196738), Toland, Amanda Ewart, Kauff, Noah, Slager, S. (Susan), Brewer, C, Olah, Edith, John Em, Sinilnikova, Olga M, Javier Benitez (81758), Rosemarie Davidson (154164), Andrulis, Irene L., Flavio Lejbkowicz (196544), Thomassen, M, Bonnani, B. (Bernardo), Eccles, Diana, Dorfling Cecilia M., van der Luijt, Rob B, Jønson, Lars, John, E.M., Mariette, F. (F.), Terry, M.B., Katie Wakeley, Meindl, A. (Alfons), Ottini, L., Duran, M., Geschwantler Kaulich Daphne, Eeles, Rosalind, Vaclova, T., Miguel de la Hoya (238670), Nathanson, K., Katie Wakeley (547059), Yael Laitman (196595), Singer, C.F., Tereza Vaclova, John, Esther M., Chenevix-Trench, Georgia, Nicoline Hoogerbrugge (81756), Jønson Lars, Simard Jacques, Papi, L, Zhang, L.Y., Kaulich, D.G., Menéndez Mireia, Fink-Retter, A, Lalloo, Fiona, Rebbeck, R. (Timothy), Izatt, L, Saundra S Buys, Niederacher, D. (Dieter), Alex Teule, Blanco, I. (Ignacio), Rhiem, K., Lucy Side, Marco Montagna, Damiola, F., Barrowdale, Daniel, Duran, Mercedes, Sutter, Christian, Menendez, M., Lejbkowicz, F., Weeman, K, Martínez-Bouzas Cristina, Olah, E. (Edith), Janavicius, R. (Ramunas), Sinilnikova, O. (Olga), Olopade, OI, Tibiletti, Maria Grazia, Poppe, B. (Bruce), Lee Andrew, Lone Sunde, Anneliese Fink Retter, Thomas V. O. Hansen (395201), Katarzyna Durda (146758), Piedmonte, M. (Marion), Glendon Gord, Cole, T., Lalloo, F, Anna Jakubowska, Kennedy John, Collee, J.M., Sinilnikova, Olga M., Tucker Kathy, Healey, Sue, Antoniou, A. C., Zaffaroni, D. (D.), Tischkowitz, Marc, Sutter Christian, Cristina Martinez-Bouzas (436091), Brewster, W, Rookus Matti A., Teixeira, Manuel R, Steele, Linda, Papi Laura, Guidugli Lucia, Loman, N, Cook, J, Wappenschmidt, B., van Os, Theo A M, Walker, L.J. (Lisa), Mai, Phuong L., Sunde, Lone, Whittemore Alice S., Berger, A, Susan L. Neuhausen (238692), Friedman, E. (Eitan), Uffe Birk Jensen (395267), Foo, C, Eeles, R. (Rosalind), Barbara Wappenschmidt (112030), Pita Guillermo, de la Hoya, M, Gord Glendon (146666), Frederique Mariette, Meijers-Heijboer, Hanne E. J., Thomassen, M., Robson, M. (Mark), Carolien H M van Deurzen, Mulligan, A.M. (Anna Marie), Domchek, Susan M, Rantala, J., Daniela Zaffaroni, Rappaport, C. (Christine), Rohini Rau-Murthy (102417), Southey, M.C. (Melissa), Inge Sokilde Pedersen (395265), Buys, Saundra, Guillermo Pita (81757), Cajal, TRY, Montagna, M. (Marco), Bojeson, Anders, Liying Zhang, Morrison, P.J. (Patrick), Floor Backes, Durda, K. (Katarzyna), Kerstin Rhiem, Lejbkowicz, F, Terry Mb, van der Kolk, L, Pedersen, Inge Sokilde; id_orcid, Cole, Trevor, Hoogerbrugge Nicoline, Varesco, Liliana, Alessandra Viel, Jensen, U.B., Catherine M Phelan, Weeman, K. (Kisa), Durán, M. (Mercedes), Jansen van Rensburg, Elizabeth, Cybulski, C. (Cezary), Domchek, S. M., Eccles, D. (Diana), Ejlertsen, Bent, Beth Y Karlan, van Asperen, Christi J, Kolk, L. van der, van der Kolk, L., Meijers-Heijboer, H.E.J., Javier Benitez, Osorio, A., Hebon, Matti A. Rookus, Amanda Ewart Toland, Moreno, Leticia Thais, Mark Robson (70145), Alfons Meindl, Evans, G., Hopper, J., Janavicius, R., Kuchenbaecker, K.B. (Karoline), Piedmonte Marion, Chenevix-Trench Georgia, Ellis, S., Thomassen, Marga, Godwin, A. K., Cecilia M. Dorfling, Oskar Th Johannsson, Milne Roger L., van der Luijt Rob B., Infante, M., Gronwald, J, Jaworska-Bieniek, K., Herraez, B., Steinemann Doris, McGuffog, L, Whittemore, A.S., Eeles Ros, Kaulich, Daphne Geschwantler, Rau-Murthy, R. (Rohini), Mar Infante, Varon-Mateeva, R. (Raymonda), Hans Jorg Plendl, Hoogerbrugge, N. (Nicoline), Lindor, N, Loman, Niklas, Linda Steele, Cole, T, Dominique Stoppa-Lyonnet, Meijers-Heijboer, E.J., Joseph Vijai (102398), Engel, C. (Christoph), Susan L. Neuhausen, Teresa Ramón y Cajal (460449), Hopper, J, Nathanson, Katherine L., Brita Arver (395252), Walker, L., Duran, M (Mercedes), Pita, Guillermo, Lester, J., Gomez Garcia, E. B., Donaldson, A., Mark H Greene, Rookus, M.A., Engel, C., Christoph Engel (218744), Ejlertsen Bent, Francesca Damiola (5331), Claire Foo, Anne Marie Gerdes, Varon-Mateeva, Raymonda, Kast, K, Infante Sanz, María Del Mar, Evans, G, Alice S. Whittemore, Janavicius Ramunas, Morrison, P, Ejlertsen, B. (Bent), Steele Linda, Meindl, A., Diez, O., Meijers-Heijboer, Hanne E.J., Conejero, R.A., Kuchenbaecker, K., Couch, F.J. (Fergus), Csilla I. Szabo (395202), Milne, R.L. (Roger), Johannsson, O.T., Ana Osorio, Godwin Andrew K., Viel, A., Walker, L, Mai, P.L. (Phuong), Mary Porteous, Morrison, Patrick, Douglas, F. (Fiona), Brita Arver, Geschwantler Kaulich, D., Rebbeck, Timothy R., Pfeiler Georg, Loman, N. (Niklas), Dorfling, C. M., Devilee Peter, Wakeley, Katie, Kuchenbaecker, Karoline B, Gómez Garcia, Encarna B., Neuhausen, S.L. (Susan), Douglas F. Easton, Lejbkowicz Flavio, Andreas Berger (547070), Hoogerbrugge, Nicoline, Rebbeck, Timothy R, Guidugli, L, Belén Herráez (547043), Papi, Laura, Beattie, M.S., Rau-Murthy, R., Moreno Leticia Thais, Walsh, Christine, Szabo, Csilla I., Mazoyer Sylvie, Tea Muy-Kheng, Investigators, kConFab, Greene, Mark H., Greene, M. H., Elizabeth J. van Rensburg (395205), Buys, Saundra S, Plendl Hans Jörg, Rantala, J, Herráez, B, Geschwantler Kaulich, D. (Daphne), Frost Debra, Claes, K., Hansen, T.V., Milne, R.L., Cajal, T.R.Y., Brewer Carole, Godwin, AK, Bonanni Bernardo, Lesley McGuffog (153865), Nathanson, K, Phelan, C.M., Peterlongo, Paolo, Donaldson Alan, Foo, C., Teixeira Manuel R., Kruse, Torben A., Universitat Autònoma de Barcelona, Davidson, R., Jenny Lester, Carole Brewer (196650), Martínez-Bouzas, Cristina, Brewer, Carole, Varesco, L, Lubinski, J. (Jan), Scuvera, Giulietta, Herzog, J., Gronwald, J. (Jacek), Rantala, Johanna, Radka Platte, Phelan, C. M., Engel, Christoph, Peter Devilee (13431), Kauff, N. (Noah), Alice S. Whittemore (218502), Torben A. Kruse, Asperen, C.J. van, Aittomäki, K. (Kristiina), Ramunas Janavicius, Plendl, H. (Hansjoerg), Lange, J.L. de, Elizabeth J van Rensburg, Beattie Mary S., Plendl, HJ, Bernard Peissel (181321), Paolo Peterlongo (146602), Porteous, Mary, Karlan, B.Y., Muy Kheng Tea, Alan Donaldson (239924), Kathy Tucker (62074), Gómez Garcia, EB, Maugard, C., Alonso, R., Dieter Niederacher, Preisler-Adams Sabine, Pedersen Inge Sokilde, Lone Sunde (547072), Ottini, Laura, Orland Diez, Poppe Bruce, Porteous, M, Arver, B. (Brita Wasteson), Lizet Van Der Kolk, Peterlongo, P, A. H. Van Der Hout, Vijai, J., Ramón y Cajal, Teresa, Olopade, Olufunmilayo I, Collée J. Margriet, Loman, Niklas,, Slager, Susan, Lázaro, C, Mai, PL, Aittomäki Kristiina, Antoniou, A.C. (Antonis), Manoukian, S., Daniel Barrowdale, Milne, Roger L., Maugard, Christine, Deurzen, C.H.M. van, van der Hout, AH, Kauff, N, Adlard, J.W. (Julian), Adlard, J, Berger, Andreas, Easton, Douglas F., Leticia Thais Moreno (547044), Mark H. Greene (395203), Vaclová Tereza, Eccles Diana, Fineberg, E, Bernard Peissel, Collee, Margriet, Rantala, J. (Johanna), Alonso Rosario, Menéndez, M. (Mireia), Schmutzler, RK, Christine Rappaport, Katarzyna Jaworska-Bieniek, Lubinski, J., Couch Fergus J., Rookus, MA, Gerdes, A-M. (Anne-Marie), Weitzel, JN, Jonson, Lars, Infante, M, Wakeley Katie, Garcia, E.B.G., Beattie, Mary S., Swe, B., Penny Soucy, Christine Walsh, Mulligan, Anna Marie, Morrison Patrick, Domchek, S.M., van Deurzen, CH, Martinez-Bouzas, C., Wendy Brewster (547058), Raquel Andrés Conejero (547039), Tea, Muy-Kheng, Whittemore, AS, Manoukian Siranoush, Singer Christian F., Shimon, Shanie Paluch, Frost, D., Hopper, John L., van Os, TA, Conxi Lazaro, Sunde, L +999 morecore +4 more sourcesA Novel null homozygous mutation confirms CACNA2D2
as a gene mutated in epileptic encephalopathy [PDF]
, 2013 Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit of Voltage Dependent Calcium Channels, is unclear. To date only one CACNA2D2 mutation altering channel functionality has been identified in a single family. In Tommaso Pippucci (497773), Antonia Parmeggiani (497774), Parmeggiani, A., Cucca, Francesco, F. Cucca, Crisponi, Laura, A. Angius, Valentino, M. L., Valerio Carelli (24588), Maresca, Alessandra, F. Palombo, Flavia Palombo, Alessandra Maresca, Flavia Palombo (497775), Laura Crisponi (186209), Palombo, Flavia, Laura Crisponi, Francesco Cucca (145742), Francesco Cucca, Seri, Marco, L. Crisponi, Carelli, V., Marco Seri (497777), Liguori, Rocco, Liguori, R., Seri, M., Pippucci, Tommaso, Maria Lucia Valentino, Parmeggiani, Antonia, Angius, A., Valentino, Maria Lucia, Angius, Andrea, Maria Lucia Valentino (144915), Valerio Carelli, Rocco Liguori (144916), Andrea Angius, Carelli, Valerio, Andrea Angius (374302), Antonia Parmeggiani, Marco Seri, Pippucci, T., Alessandra Maresca (497776), Rocco Liguori, Palombo, F., Cucca, F., Tommaso Pippucci, Maresca, A. +46 morecore +1 more sourceInteraction Between Kb and Q4 Gene Sequences Generates the Kbm6 Mutation [PDF]
, 1986 Genetic interaction as a mechanism for the generation of mutations is suggested by recurrent, multiple
nucleotide substitutions that are identical to nucleotide sequences elsewhere in the genome.Pease, Larry R., Flavell, Richard A., Nathenson, Stanley G., Geliebter, Jan, Mellor, Andrew L., Zeff, Richard A., Weiss, Elisabeth H., Schulze, Dan H. +7 morecore +1 more sourceThe gene encoding flavonol synthase contributes to lesion mimic in wheat
Crop JournalLesion mimic often exhibits leaf disease-like symptoms even in the absence of pathogen infection, and is characterized by a hypersensitive-response (HR) that closely linked to plant disease resistance.Tingting Dong, Hongchun Xiong, Huijun Guo, Yongdun Xie, Linshu Zhao, Jiayu Gu, Huiyuan Li, Shirong Zhao, Yuping Ding, Xiyun Song, Luxiang Liu +10 moredoaj +1 more sourceVariable Myopathic Presentation in a Single Family with Novel Skeletal RYR1 Mutation [PDF]
, 2013 We describe an autosomal recessive heterogeneous congenital myopathy in a large consanguineous family. The disease is characterized by variable severity, progressive course in 3 of 4 patients, myopathic face without ophthalmoplegia and proximal muscle ...Rokach, O., Ruben Attali, Nevo, Y., Talya Dor, Fellig, Y., Straussberg Rachel, Rachel Straussberg, Aharoni S, TREVES, Susan Nella, Daana, M., Fellig Yakov, Becker Cohen Michal, Mitrani-Rosenbaum Stella, Attali R, Attali Ruben, Yoram Nevo, Rokach O, Attali, R., Dor, T., Becker Cohen M, Susan Treves, Mitrani-Rosenbaum, S., Fellig Y, Aharoni, S., Mitrani Rosenbaum S, Treves, S., Dor T, Nevo Yoram, Aharoni Sharon, Straussberg, R., Michal Becker Cohen, Dor Talya, Straussberg R, Becker Cohen, M., Ori Rokach, Muhannad Daana, Nevo Y., Treves Susan, Daana Muhannad, Stella Mitrani-Rosenbaum, Rokach Ori, Yakov Fellig, Daana M, Sharon Aharoni +43 morecore +2 more sourcesGenetic Analysis and Fine Mapping of QTL for the Erect Leaf in Mutant mths29 Induced through Fast Neutron in Wheat
BiologyThe erect leaf plays a crucial role in determining plant architecture, with its growth and development regulated by genetic factors. However, there has been a lack of comprehensive studies on the regulatory mechanisms governing wheat lamina joint ...Zhixin Yang, Jiayu Gu, Minghui Zhao, Xiaofeng Fan, Huijun Guo, Yongdun Xie, Jinfeng Zhang, Hongchun Xiong, Linshu Zhao, Shirong Zhao, Yuping Ding, Fuquan Kong, Li Sui, Le Xu, Luxiang Liu +14 moredoaj +1 more source
