المؤلفون: Matthias Kloor, Jürgen Weitz, Jacob Nattermann, Monika Morak, Stefan Aretz, Gabriela Moeslein, Swetlana Ladigan-Badura, Deepak Vangala, Huu Phuc Nguyen, Reinhard Buettner, Claudia Perne, Christian Pox, Verena Steinke-Lange, Karsten Schulmann, Hans K. Schackert, Elke Holinski-Feder, Wolff Schmiegel, Karolin Bucksch, Markus Loeffler, Judith Kuhlkamp, Nils Rahner, Robert Hueneburg, Christian P. Strassburg, Christoph Engel

المصدر: International Journal of Cancer. 148:106-114

مصطلحات موضوعية: Adult, Male, Cancer Research, medicine.medical_specialty, Disease, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Stomach Neoplasms, Germany, Internal medicine, Gastroscopy, medicine, Humans, Genetic Predisposition to Disease, ddc:610, Prospective Studies, Family history, Intestinal Cancer, Early Detection of Cancer, Aged, Neoplasm Staging, medicine.diagnostic_test, business.industry, Age Factors, Cancer, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Lynch syndrome, Early Gastric Cancer, Endoscopy, MutS Homolog 2 Protein, Oncology, Evaluation Studies as Topic, Gastric Mucosa, 030220 oncology & carcinogenesis, Mutation, Practice Guidelines as Topic, Patient Compliance, MutL Protein Homolog 1, business, Cohort study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72d4e94c977f36a987dce05df7758415Test
https://doi.org/10.1002/ijc.33294Test

المؤلفون: Richarda M de Voer, Marc-Manuel Hahn, Robbert D A Weren, Arjen R Mensenkamp, Christian Gilissen, Wendy A van Zelst-Stams, Liesbeth Spruijt, C Marleen Kets, Junxiao Zhang, Hanka Venselaar, Lilian Vreede, Nil Schubert, Marloes Tychon, Ronny Derks, Hans K Schackert, Ad Geurts van Kessel, Nicoline Hoogerbrugge, Marjolijn J L Ligtenberg, Roland P Kuiper

المصدر: PLoS Genetics, Vol 12, Iss 2, p e1005880 (2016)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4764646?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test

الوصول الحر: https://doaj.org/article/d9f202028a73475093e7c1d60ba66471Test

المؤلفون: Seçil Aksoy, Michael O. Woods, Heinric Williams, Bruno Buecher, Finlay A. Macrae, Lotte N. Krogh, Jay Qiu, Wan K.W. Juhari, Jan T. Lowery, Anne-Marie Gerdes, Magnus von Knebel Doeberitz, Luigi Ricciardiello, Karsten Schulmann, Jose Luis Soto, Kristina Lagerstedt-Robinson, Kiwamu Akagi, Raj Ramesar, Uffe Birk Jensen, Angel Alonso, Robert Hüneburg, Olivier Caron, Michel Longy, Jan Lubinski, Kate Green, Annabel Goodwin, D. Gareth Evans, Julie Wods, Leigha Senter, Matthew F. Kalady, Mark Clendenning, Barbara A. Leggett, Ravindran Ankathil, Swati G. Patel, Julian Barwell, Katherine M. Tucker, Grant Lee, Pascaline Berthet, Dawn M. Nixon, Sonia S. Kupfer, Naohiro Tomita, Susan Parry, Trinidad Caldés, Robert W. Haile, Edenir Inêz Palmero, Karin Alvarez, Cassandra B. Nichols, Mark A. Jenkins, N. Jewel Samadder, Loic LeMarchand, John Burn, Francisco Lopez, Rodney J. Scott, Pierre Laurent-Puig, Julie Arnold, Christina Therkildsen, Hans K. Schackert, Pilar Garre, Reinhard Buettner, Adriana Della Valle, Patricia Esperon, Wolff Schmiegel, Karl Heinimann, Inge Bernstein, Matthias Kloor, Nicoline Hoogerbrugge, Rui Manuel Reis, Fränzel J.B. Van Duijnhoven, Christoph Engel, Mohd Nizam Zahary, Sylviane Olschwang, Sapna Syngal, Valérie Bonadona, Nicholas Pachter, Matilde Navarro, Albert de la Chapelle, Beate Betz, Jukka-Pekka Mecklin, Catherine Noguès, Elena M. Stoffel, Toni T. Seppälä, Chrystelle Colas, Anneke Lucassen, Allan D. Spigelman, Youenn Drouet, Elisa J. Cops, Uri Ladabaum, Steve Thibodeau, Jeffrey N. Weitzel, Fiona Lalloo, Patrick J. Morrison, Maurizio Genuardi, Kohji Tanakaya, Patrick M. Lynch, Frederik J. Hes, William D. Foulkes, Carmen Guillén-Ponce, Jenny von Salomé, Emilia Rogoża-Janiszewska, Andrew Latchford, John L. Hopper, Carrie Snyder, Verónica Barca-Tierno, Gabriela Möslein, Lauren M. Gima, Melissa C. Southey, Paul A. James, Marion Dhooge, Claudia Perne, Steven Gallinger, Heather Hampel, Amanda B. Spurdle, Ingrid Winship, Emmanuelle Fourme, Rish K. Pai, Daniela Turchetti, Marta Pineda, Jürgen Weitz, James Hill, Daniel D. Buchanan, Carlos A. Vaccaro, Noralane M. Lindor, Rachel Pearlman, Pål Møller, Christian P. Strassburg, Jane C. Figueiredo, Aída Falcón de Vargas, Silke Zachariae, Karolin Bucksch, Joanne Ngeow, Silke Redler, Henrik Okkels, Maija R.J. Kohonen-Corish, Hans F. A. Vasen, Verena Steinke-Lange, Roselyne Guimbaud, Deepak Vangala, Isabelle Coupier, Nils Rahner, Berrin Tunca, Sanne W. Bajwa-ten Broeke, Niels de Wind, Sophie Lejeune, José Gaston Guillem, Karin Wadt, Polly A. Newcomb, Elke Holinski-Feder, Florencia Neffa, Rodrigo Santa Cruz Guindalini, Paul E. Wise, Julian R. Sampson, Graham Casey, Lene Juel Rasmussen, Rolf H. Sijmons, Tadeusz Dębniak, Ann-Sofie Backman, Joji Utsunomiya, Melyssa Aronson, Aung Ko Win, Yves-Jean Bignon, Judy W. C. Ho, Robyn L. Ward, Mev Dominguez-Valentin, Karolina Malińska, Elizabeth E. Half, John-Paul Plazzer, Marjolijn J. L. Ligtenberg, Rachel Austin, Nicola K. Poplawski, Marcia Cruz-Correa, Nagahide Matsubara, Charlotte Kvist Lautrup, Thomas Hansen, Tatsuro Yamaguchi, Thomas John, David J. Amor, Ilana Solomon, Yun-Hee Choi, Meghan J. van Wanzeele, Rakefet Shtoyerman, Vanessa Huntley, Maartje Nielsen, Deborah Neklason, Kevin J. Monahan, Gülçin Tezcan, Stefan Aretz, Talya Boisjoli, Sophie Giraud, Thierry Frebourg, Christophe Rosty, Heike Görgens, Lone Sunde, Allyson Templeton, Jacob Nattermann, Mala Pande, Joan Brunet, Nancy Uhrhammer, James M. Church, Florencia Spirandelli, Laurent Briollais, James G. Dowty, Jeanette C. Reece, Rachel Susman, Fay Kastrinos, Kirsi Pylvänäinen, Gabriel Capellá, Helène Schuster, Min H. Chew, Markus Loeffler, Christine Lasset, Michael J. Hall, Capuccine Delnatte, Floor A. Duijkers

المساهمون: Imagerie Moléculaire et Stratégies Théranostiques (IMoST), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA), Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), UNICANCER, Digital Precision Cancer Medicine (iCAN), ATG - Applied Tumor Genomics, HUS Abdominal Center, Clinical sciences, Medical Genetics, Win A.K., Dowty J.G., Reece J.C., Lee G., Templeton A.S., Plazzer J.-P., Buchanan D.D., Akagi K., Aksoy S., Alonso A., Alvarez K., Amor D.J., Ankathil R., Aretz S., Arnold J.L., Aronson M., Austin R., Backman A.-S., Bajwa-ten Broeke S.W., Barca-Tierno V., Barwell J., Bernstein I., Berthet P., Betz B., Bignon Y.-J., Boisjoli T., Bonadona V., Briollais L., Brunet J., Bucksch K., Buecher B., Buettner R., Burn J., Caldes T., Capella G., Caron O., Casey G., Chew M.H., Choi Y.-H., Church J., Clendenning M., Colas C., Cops E.J., Coupier I., Cruz-Correa M., de la Chapelle A., de Wind N., Debniak T., Della Valle A., Delnatte C., Dhooge M., Dominguez-Valentin M., Drouet Y., Duijkers F.A., Engel C., Esperon P., Evans D.G., Falcon de Vargas A., Figueiredo J.C., Foulkes W., Fourme E., Frebourg T., Gallinger S., Garre P., Genuardi M., Gerdes A.-M., Gima L.M., Giraud S., Goodwin A., Gorgens H., Green K., Guillem J., Guillen-Ponce C., Guimbaud R., Guindalini R.S.C., Half E.E., Hall M.J., Hampel H., Hansen T.V.O., Heinimann K., Hes F.J., Hill J., Ho J.W.C., Holinski-Feder E., Hoogerbrugge N., Huneburg R., Huntley V., James P.A., Jensen U.B., John T., Juhari W.K.W., Kalady M., Kastrinos F., Kloor M., Kohonen-Corish M.R., Krogh L.N., Kupfer S.S., Ladabaum U., Lagerstedt-Robinson K., Lalloo F., Lasset C., Latchford A., Laurent-Puig P., Lautrup C.K., Leggett B.A., Lejeune S., LeMarchand L., Ligtenberg M., Lindor N., Loeffler M., Longy M., Lopez F., Lowery J., Lubinski J., Lucassen A.M., Lynch P.M., Malinska K., Matsubara N., Mecklin J.-P., Moller P., Monahan K., Morrison P.J., Nattermann J., Navarro M., Neffa F., Neklason D., Newcomb P.A., Ngeow J., Nichols C., Nielsen M., Nixon D.M., Nogues C., Okkels H., Olschwang S., Pachter N., Pai R.K., Palmero E.I., Pande M., Parry S., Patel S.G., Pearlman R., Perne C., Pineda M., Poplawski N.K., Pylvanainen K., Qiu J., Rahner N., Ramesar R., Rasmussen L.J., Redler S., Reis R.M., Ricciardiello L., Rogoza-Janiszewska E., Rosty C., Samadder N.J., Sampson J.R., Schackert H.K., Schmiegel W., Schulmann K., Schuster H., Scott R., Senter L., Seppala T.T., Shtoyerman R., Sijmons R.H., Snyder C., Solomon I.B., Soto J.L., Southey M.C., Spigelman A., Spirandelli F., Spurdle A.B., Steinke-Lange V., Stoffel E.M., Strassburg C.P., Sunde L., Susman R., Syngal S., Tanakaya K., Tezcan G., Therkildsen C., Thibodeau S., Tomita N., Tucker K.M., Tunca B., Turchetti D., Uhrhammer N., Utsunomiya J., Vaccaro C., van Duijnhoven F.J.B., van Wanzeele M.J., Vangala D.B., Vasen H.F.A., von Knebel Doeberitz M., von Salome J., Wadt K.A.W., Ward R.L., Weitz J., Weitzel J.N., Williams H., Winship I., Wise P.E., Wods J., Woods M.O., Yamaguchi T., Zachariae S., Zahary M.N., Hopper J.L., Haile R.W., Macrae F.A., Moslein G., Jenkins M.A.

المصدر: The Lancet Oncology, 22(7), 1014-1022. ELSEVIER SCIENCE INC
International Mismatch Repair Consortium, Sunde, L E M, Lautrup, C K, Okkels, H & Bernstein, I 2021, ' Variation in the risk of colorectal cancer in families with Lynch syndrome : a retrospective cohort study ', The Lancet. Oncology, vol. 22, no. 7, pp. 1014-1022 . https://doi.org/10.1016/S1470-2045Test(21)00189-3
The International Mismatch Repair Consortium 2021, ' Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study ', The Lancet Oncology, vol. 22, no. 7, pp. 1014-1022 . https://doi.org/10.1016/S1470-2045Test(21)00189-3
Lancet Oncology
Lancet Oncology, Elsevier, 2021, 22 (7), pp.1014-1022. ⟨10.1016/S1470-2045(21)00189-3⟩
The International Mismatch Repair Consortium 2021, ' Variation in the risk of colorectal cancer in families with Lynch syndrome : a retrospective cohort study ', The Lancet Oncology, vol. 22, no. 7, pp. 1014-1022 . https://doi.org/10.1016/S1470-2045Test(21)00189-3
Lancet Oncology, 22, 7, pp. 1014-1022
Lancet Oncology, 22, 1014-1022

مصطلحات موضوعية: 0301 basic medicine, Proband, Oncology, Male, Heredity, DNA mismatch repair, [SDV]Life Sciences [q-bio], SUSCEPTIBILITY, Settore MED/03 - GENETICA MEDICA, 0302 clinical medicine, Residence Characteristics, Risk Factors, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], PMS2, ComputingMilieux_MISCELLANEOUS, MLH1, Age Factors, Middle Aged, Penetrance, Lynch syndrome, 3. Good health, Pedigree, Phenotype, 030220 oncology & carcinogenesis, Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis, Female, Adult, medicine.medical_specialty, PENETRANCE, congenital, hereditary, and neonatal diseases and abnormalities, GENES, 3122 Cancers, colorectal cancer, BREAST, Risk Assessment, 03 medical and health sciences, Sex Factors, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Retrospective Studies, business.industry, MUTATIONS, Cancer, medicine.disease, digestive system diseases, MSH2, MSH6, MODEL, INDIVIDUALS, 030104 developmental biology, Lynch Syndrome, Gene-Environment Interaction, business

وصف الملف: application/pdf; STAMPA

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::120a2365bb20955114b7ac66956df4feTest
http://hdl.handle.net/1887/3213866Test

المؤلفون: Reinhard Büttner, Tobias Doerks, Nils Rahner, Magnus von Knebel-Doeberitz, Stefan Herms, Christoph Engel, Verena Steinke-Lange, Sukanya Horpaopan, Stefanie Holzapfel, Deepak Vangala, Juul T. Wijnen, Hans K. Schackert, Sascha B. Fischer, Monika Morak, Susanne Moebus, Stefan Aretz, Sophia Peters, Katrin Kayser, Isabel Spier, Peer Bork, Franziska Degenhardt, Per Hoffmann

المصدر: International Journal of Cancer. 143:2800-2813

مصطلحات موضوعية: 0301 basic medicine, Genetics, Sanger sequencing, Cancer Research, Candidate gene, Biology, medicine.disease, Lynch syndrome, DNA sequencing, 03 medical and health sciences, symbols.namesake, genomic DNA, 030104 developmental biology, Germline mutation, Oncology, MSH2, medicine, symbols, Copy-number variation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6ec338770ac0ae5c1cd02cb89dc9902dTest
https://doi.org/10.1002/ijc.31725Test

المؤلفون: Fadwa A. Elsayed, Judith E. Grolleman, Abiramy Ragunathan, Daniel D. Buchanan, Tom van Wezel, Richarda M. de Voer, Arnoud Boot, Marija Staninova Stojovska, Khalid Mahmood, Mark Clendenning, Noel de Miranda, Dagmara Dymerska, Demi van Egmond, Steven Gallinger, Peter Georgeson, Nicoline Hoogerbrugge, John L. Hopper, Erik A.M. Jansen, Mark A. Jenkins, Jihoon E. Joo, Roland P. Kuiper, Marjolijn J.L. Ligtenberg, Jan Lubinski, Finlay A. Macrae, Hans Morreau, Polly Newcomb, Maartje Nielsen, Claire Palles, Daniel J. Park, Bernard J. Pope, Christophe Rosty, Clara Ruiz Ponte, Hans K. Schackert, Rolf H. Sijmons, Ian P. Tomlinson, Carli M.J. Tops, Lilian Vreede, Romy Walker, Aung K. Win

المساهمون: Guided Treatment in Optimal Selected Cancer Patients (GUTS)

المصدر: Gastroenterology, 159, 6, pp. 2241-2243
Gastroenterology, 159(6), 2241-2243.e6. W B SAUNDERS CO-ELSEVIER INC
Gastroenterology
Gastroenterology, 159, 2241-2243

مصطلحات موضوعية: Adult, Male, Heterozygote, Colorectal cancer, Colonic Polyps, Biology, Polymorphism, Single Nucleotide, Article, Deoxyribonuclease (Pyrimidine Dimer), All institutes and research themes of the Radboud University Medical Center, Mutation Carrier, Polymorphism (computer science), Loss of Function Mutation, medicine, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Humans, Genetic Predisposition to Disease, Loss function, Exome sequencing, Alleles, Aged, Colorectal Cancer, Hepatology, Gastroenterology, Base Excision Repair, Heterozygote advantage, Base excision repair, Middle Aged, medicine.disease, Tumor Mutational Signatures, Cancer research, Female, Colorectal Neoplasms

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f011c8eb83e62072232c460c7b90cfdfTest
https://hdl.handle.net/1887/3184333Test

المؤلفون: Gabriel Capellá, Patricia Esperon, Christoph Engel, Rolf H. Sijmons, María Laura Gonzalez, Matilde Navarro, Francisco López-Köstner, Julian R. Sampson, Miquel Serra-Burriel, Karin Alvarez, Ingrid Winship, Nathan Gluck, Lone Sunde, Reinhard Büttner, Giulia Martina Cavestro, Wouter H. de Vos tot Nederveen Cappel, Jukka-Pekka Mecklin, Marc S. Greenblatt, Kate Green, Robert Hüneburg, Markus Loeffler, Maria Grazia Tibiletti, Tamara Alejandra Piñero, Florencia Neffa, Lucio Bertario, Ariadna Sánchez, Verena Steinke-Lange, Christina Therkildsen, Jane C. Figueiredo, Douglas Tjandra, Magnus von Knebel Doeberitz, Lior H. Katz, Steven Gallinger, Noralane M. Lindor, Gabriela Möslein, Adriana Della Valle, John L. Hopper, Einar Andreas Rødland, Miriam Mints, Annika Lindblom, Ian M. Frayling, Polly A. Newcomb, Pål Møller, Sanne W. ten Broeke, Laura Renkonen-Sinisalo, Sigve Nakken, Stefanie Holzapfel, Finlay A. Macrae, Stefan Aretz, Nils Rahner, Karin Wadt, Robert W. Haile, Francesc Balaguer, Revital Kariv, Stephen N. Thibodeau, Huw D. Thomas, Emma J Crosbie, Deepak Vangala, Monika Morak, Ignacio Blanco, Hans K. Schackert, Henrik Okkels, Mev Dominguez-Valentin, Oliver G. Denton, John-Paul Plazzer, Zohreh Ketabi, James Hill, Loic Le Marchand, Mark A. Jenkins, Inge Bernstein, D. Gareth Evans, Heike Görgens, Marta Pineda, John Burn, Kirsi Pylvänäinen, Eivind Hovig, Hans F. A. Vasen, Pablo Kalfayan, Toni T. Seppälä, Aung Ko Win, Maartje Nielsen, Wolff Schmiegel, Guy Rosner, Karl Heinimann, Fiona Lalloo, Carlos A. Vaccaro, Elke Holinski-Feder, Leticia Moreira

المساهمون: HUS Abdominal Center, Clinicum, II kirurgian klinikka, University of Helsinki, Department of Surgery, ATG - Applied Tumor Genomics, Research Programs Unit, Dominguez-Valentin, M., Sampson, J. R., Seppala, T. T., ten Broeke, S. W., Plazzer, J. -P., Nakken, S., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., Hovig, E., de Vos tot Nederveen Cappel, W. H., Sijmons, R. H., Bertario, L., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Della Valle, A., Lopez-Kostner, F., Gluck, N., Katz, L. H., Heinimann, K., Vaccaro, C. A., Buttner, R., Gorgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Huneburg, R., Knebel Doeberitz, M., Loeffler, M., Rahner, N., Schackert, H. K., Steinke-Lange, V., Schmiegel, W., Vangala, D., Pylvanainen, K., Renkonen-Sinisalo, L., Hopper, J. L., Win, A. K., Haile, R. W., Lindor, N. M., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Wadt, K., Therkildsen, C., Okkels, H., Ketabi, Z., Moreira, L., Sanchez, A., Serra-Burriel, M., Pineda, M., Navarro, M., Blanco, I., Green, K., Lalloo, F., Crosbie, E. J., Hill, J., Denton, O. G., Frayling, I. M., Rodland, E. A., Vasen, H., Mints, M., Neffa, F., Esperon, P., Alvarez, K., Kariv, R., Rosner, G., Pinero, T. A., Gonzalez, M. L., Kalfayan, P., Tjandra, D., Winship, I. M., Macrae, F., Moslein, G., Mecklin, J. -P., Nielsen, M., Moller, P., Guided Treatment in Optimal Selected Cancer Patients (GUTS)

المصدر: Dominguez-Valentin, M, Sampson, J R, Seppälä, T T, Ten Broeke, S W, Plazzer, J-P, Nakken, S, Engel, C, Aretz, S, Jenkins, M A, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Thomas, H, Evans, D G, Burn, J, Greenblatt, M, Hovig, E, de Vos Tot Nederveen Cappel, W H, Sijmons, R H, Bertario, L, Tibiletti, M G, Cavestro, G M, Lindblom, A, Della Valle, A, Lopez-Köstner, F, Gluck, N, Katz, L H, Heinimann, K, Vaccaro, C A, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, Knebel Doeberitz, M V, Loeffler, M, Rahner, N, Schackert, H K, Steinke-Lange, V, Schmiegel, W, Vangala, D, Pylvänäinen, K, Renkonen-Sinisalo, L, Hopper, J L, Win, A K, Haile, R W, Lindor, N M & Okkels, H 2020, ' Correction : Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database ', Genetics in Medicine, vol. 22, no. 9 . https://doi.org/10.1038/s41436-020-0892-4Test
Dominguez-Valentin, M, Sampson, J R, Seppälä, T T, Ten Broeke, S W, Plazzer, J-P, Nakken, S, Engel, C, Aretz, S, Jenkins, M A, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Thomas, H, Evans, D G, Burn, J, Greenblatt, M, Hovig, E, de Vos Tot Nederveen Cappel, W H, Sijmons, R H, Bertario, L, Tibiletti, M G, Cavestro, G M, Lindblom, A, Della Valle, A, Lopez-Köstner, F, Gluck, N, Katz, L H, Heinimann, K, Vaccaro, C A, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, Knebel Doeberitz, M V, Loeffler, M, Rahner, N, Schackert, H K, Steinke-Lange, V, Schmiegel, W, Vangala, D, Pylvänäinen, K, Renkonen-Sinisalo, L, Hopper, J L, Win, A K, Haile, R W, Lindor, N M, Gallinger, S, Le Marchand, L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Wadt, K, Therkildsen, C, Okkels, H, Ketabi, Z, Moreira, L, Sánchez, A, Serra-Burriel, M, Pineda, M, Navarro, M, Blanco, I, Green, K, Lalloo, F, Crosbie, E J, Hill, J, Denton, O G, Frayling, I M, Rødland, E A, Vasen, H, Mints, M, Neffa, F, Esperon, P, Alvarez, K, Kariv, R, Rosner, G, Pinero, T A, Gonzalez, M L, Kalfayan, P, Tjandra, D, Winship, I M, Macrae, F, Möslein, G, Mecklin, J-P, Nielsen, M & Møller, P 2020, ' Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants : findings from the Prospective Lynch Syndrome Database ', Genetics in Medicine, vol. 22, no. 1, pp. 15-25 . https://doi.org/10.1038/s41436-019-0596-9Test
Dipòsit Digital de la UB
Universidad de Barcelona
Evans, D G, Crosbie, E, Hill, J & et al. 2019, ' Cancer risks by gene, age and gender in 6,350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database ', Genetics in Medicine . https://doi.org/10.1038/s41436-019-0596-9Test
Genetics in Medicine, 22(1), 15-25. NATURE PUBLISHING GROUP
Genetics in Medicine
Dominguez-Valentin, M, Sampson, J R, Seppälä, T T, ten Broeke, S W, Plazzer, J P, Nakken, S, Engel, C, Aretz, S, Jenkins, M A, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Thomas, H, Evans, D G, Burn, J, Greenblatt, M, Hovig, E, de Vos tot Nederveen Cappel, W H, Sijmons, R H, Bertario, L, Tibiletti, M G, Cavestro, G M, Lindblom, A, Della Valle, A, Lopez-Köstner, F, Gluck, N, Katz, L H, Heinimann, K, Vaccaro, C A, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, Knebel Doeberitz, M V, Loeffler, M, Rahner, N, Schackert, H K, Steinke-Lange, V, Schmiegel, W, Vangala, D, Pylvänäinen, K, Renkonen-Sinisalo, L, Hopper, J L, Win, A K, Haile, R W, Lindor, N M, Gallinger, S, Le Marchand, L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Wadt, K, Therkildsen, C, Okkels, H, Ketabi, Z, Moreira, L, Sánchez, A, Serra-Burriel, M, Pineda, M, Navarro, M, Blanco, I, Green, K, Lalloo, F, Crosbie, E J, Hill, J, Denton, O G, Frayling, I M, Rødland, E A, Vasen, H, Mints, M, Neffa, F, Esperon, P, Alvarez, K, Kariv, R, Rosner, G, Pinero, T A, Gonzalez, M L, Kalfayan, P, Tjandra, D, Winship, I M, Macrae, F, Möslein, G, Mecklin, J P, Nielsen, M & Møller, P 2020, ' Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants : findings from the Prospective Lynch Syndrome Database ', Genetics in Medicine, vol. 22, no. 1, pp. 15-25 . https://doi.org/10.1038/s41436-019-0596-9Test
Genetics in Medicine, 22(1), 15-25. Nature Publishing Group

مصطلحات موضوعية: Oncology, Male, Colorectal cancer, Lynch syndrome, Penetrance, DNA Mismatch Repair, 0302 clinical medicine, Databases, Genetic, Malalties hereditàries, Prospective Studies, Càncer, PMS2, Genetics (clinical), Mismatch Repair Endonuclease PMS2, Cancer, 0303 health sciences, Sex Characteristics, Factors de risc en les malalties, 1184 Genetics, developmental biology, physiology, MLH1, Middle Aged, 16. Peace & justice, 3. Good health, DNA-Binding Proteins, MutS Homolog 2 Protein, syöpägeenit, MSH2, 030220 oncology & carcinogenesis, MSH6, 030211 gastroenterology & hepatology, DNA mismatch repair, Female, geneettiset tekijät, MutL Protein Homolog 1, Genetic diseases, Adult, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Risk factors in diseases, suolistosyövät, MUTATION CARRIERS, Risk Assessment, Article, sukupuoli, Age and gender, 03 medical and health sciences, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Lynchin oireyhtymä, Gene, 030304 developmental biology, Aged, business.industry, Endometrial cancer, Correction, nutritional and metabolic diseases, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Survival Analysis, digestive system diseases, Mutation, 3111 Biomedicine, ikä, business, Ovarian cancer

وصف الملف: application/pdf; fulltext

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::347fa11199294fa0eb757b6ff6ba0788Test
https://vbn.aau.dk/ws/files/394936730/Correction_Dominguez_Valentin_et_al._2020_.pdfTest

المؤلفون: Encarna B. Gomez Garcia, Liesbeth Spruijt, Rolf H. Sijmons, Cora M. Aalfs, Margreet G. E. M. Ausems, Inga Bjørnevoll, Marjolijn J. L. Ligtenberg, Frederik J. Hes, Hans K. Schackert, Anna Jakubowska, Carla Oliveira, Rachel S. van der Post, Guglielmina Nadia Ranzani, Jan Lubinski, Annemieke Cats, Urszula Teodorczyk, Liselotte P. van Hest, Ingrid P. Vogelaar, Eveline J. Kamping, J. Han van Krieken, Maurizio Genuardi, Robbert D.A. Weren, Lizet E. van der Kolk, Elke Holinski-Feder, Anja Wagner, Nicoline Hoogerbrugge

المساهمون: Instituto de Investigação e Inovação em Saúde, Medical Genetics, Human genetics, CCA - Cancer biology and immunology, Clinical Genetics, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, Human Genetics

المصدر: Journal of Medical Genetics, 55, 669-674
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Journal of Medical Genetics
Journal of Medical Genetics, 55(10), 669-674. BMJ Publishing Group
Weren, R D A, van der Post, R S, Vogelaar, I P, Han van Krieken, J, Spruijt, L, Lubinski, J, Jakubowska, A, Teodorczyk, U, Aalfs, C M, van Hest, L P, Oliveira, C, Kamping, E J, Schackert, H K, Ranzani, G N, García, E B G M, Hes, F J, Holinski-Feder, E, Genuardi, M, Ausems, M G E M, Sijmons, R H, Wagner, A, van der Kolk, L E, Cats, A, Bjørnevoll, I, Hoogerbrugge, N & Ligtenberg, M J L 2018, ' Role of germline aberrations affecting CTNNA1, MAP3K6 and MYD88 in gastric cancer susceptibility ', Journal of Medical Genetics, vol. 55, no. 10, pp. 669-674 . https://doi.org/10.1136/jmedgenet-2017-104962Test
Journal of Medical Genetics, 55(10), 669-674
Journal of medical genetics, 55(10), 669-674. BMJ Publishing Group
Journal of Medical Genetics, 55, 10, pp. 669-674

مصطلحات موضوعية: 0301 basic medicine, Male, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], ACCURACY, MAP Kinase Kinase Kinases / genetics, heritability, medicine.disease_cause, GUIDELINES, Germline, Cohort Studies, 0302 clinical medicine, Cadherins / genetics, Genotype, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], ctnna1-map3k6-myd88, genetics, Genetics(clinical), Genetics (clinical), Genetics, Mutation, education.field_of_study, High-Throughput Nucleotide Sequencing, Middle Aged, Cadherins, MAP Kinase Kinase Kinases, Myeloid Differentiation Factor 88 / genetics, Europe, 030220 oncology & carcinogenesis, MOLECULAR INVERSION PROBES, CARCINOMAS, Female, Antigens, CD / genetics, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, Population, Single-nucleotide polymorphism, Biology, cancer: gastric, ctnna1 – map3k6 – myd88, next generation sequencing, 03 medical and health sciences, Young Adult, Germline mutation, SDG 3 - Good Health and Well-being, Antigens, CD, Stomach Neoplasms, Next generation sequencing, medicine, Cancer Genetics, Humans, Genetic Predisposition to Disease, Stomach Neoplasms / genetics, Allele, alpha Catenin / genetics, education, Germ-Line Mutation, Aged, Settore MED/06 - ONCOLOGIA MEDICA, CDH1, MUTATIONS, Cancer, Sequence Analysis, DNA, medicine.disease, 030104 developmental biology, Myeloid Differentiation Factor 88, alpha Catenin

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed7affe88f414f3f722496f49bd18bffTest
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85049163281&origin=inwardTest

المؤلفون: Maura Carrai, Verena Steinke, Pavel Vodicka, Barbara Pardini, Nils Rahner, Elke Holinski-Feder, Monika Morak, Hans K Schackert, Heike Görgens, Susanne Stemmler, Beate Betz, Matthias Kloor, Christoph Engel, Reinhard Büttner, Alessio Naccarati, Ludmila Vodickova, Jan Novotny, Angelika Stein, Kari Hemminki, Peter Propping, Asta Försti, Federico Canzian, Roberto Barale, Daniele Campa

المصدر: PLoS ONE, Vol 6, Iss 6, p e20464 (2011)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/21674048/?tool=EBITest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/aef545cb8a254181b4471e7b06bbe518Test

المؤلفون: Bernd Frank, Barbara Burwinkel, Justo Lorenzo Bermejo, Asta Fö Rsti, Kari Hemminki, Richard Houlston, Elisabeth Mangold, Nils Rahner, Waltraut Friedl, Nicolaus Friedrichs, Reinhard Buettner, Christoph Engel, Markus Loeffler, Elke Holinski-Feder, Monika Morak, Gisela Keller, Hans K Schackert, Stefan Krü Ger, Timm Goecke, Gabriela Moeslein, Matthias Kloor, Johannes Gebert, Erdmute Kunstmann, Karsten Schulmann, Josef Rü Schoff P, Peter Propping

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://www.imise.uni-leipzig.de/Archiv/2008/frank-b-2008-153-a.pdfTest.

وصف الملف: application/pdf

العلاقة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.1079.8229Test; http://www.imise.uni-leipzig.de/Archiv/2008/frank-b-2008-153-a.pdfTest

الإتاحة: http://www.imise.uni-leipzig.de/Archiv/2008/frank-b-2008-153-a.pdfTest

المؤلفون: Anna Benet-Pagès, Martina Kerscher, Gisela Keller, Sarah Käsbauer, Andreas Laner, Elke Holinski-Feder, Monika Morak, Trisari Massdorf, Anke M. Nissen, Hans K. Schackert

المصدر: Familial Cancer. 16:491-500

مصطلحات موضوعية: Male, 0301 basic medicine, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Loss of Heterozygosity, Biology, MLH1, Germline, Loss of heterozygosity, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Genetics, medicine, Humans, neoplasms, Germ-Line Mutation, Genetics (clinical), nutritional and metabolic diseases, Microsatellite instability, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, Pedigree, DNA-Binding Proteins, MSH6, MutS Homolog 2 Protein, 030104 developmental biology, Oncology, MSH3, MSH2, 030220 oncology & carcinogenesis, MutS Homolog 3 Protein, Cancer research, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ed8f71a51098951e37ae05a1de8eeb9Test
https://doi.org/10.1007/s10689-017-9975-zTest