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1
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 -
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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, 1014-1022مصطلحات 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 -
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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, 2241-2243مصطلحات 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 -
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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 Groupمصطلحات 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 -
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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. 669-674مصطلحات 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 -
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المؤلفون: Carla Oliveira, Roland P. Kuiper, Hildegunn Høberg-Vetti, James R. Lupski, Encarna B. Gomez Garcia, Margreet G. E. M. Ausems, Christian Gilissen, Liesbeth Spruijt, Elke Holinski-Feder, C. Marleen Kets, Urszula Teodorczyk, Jelle J. Goeman, Rachel S. van der Post, Ad Geurts van Kessel, Anja Wagner, Alexander Hoischen, Anna Jakubowska, Wendy A. G. van Zelst-Stams, Rolf H. Sijmons, Cora M. Aalfs, Nicoline Hoogerbrugge, Maartje van de Vorst, Marjolijn J. L. Ligtenberg, Maurizio Genuardi, Shalini N. Jhangiani, Jan Lubinski, Lisenka E.L.M. Vissers, Frederik J. Hes, Inga Bjørnevoll, J. Han van Krieken, Hugo Pinheiro, Hans K. Schackert, Joep de Ligt, Ingrid P. Vogelaar, Guglielmina Nadia Ranzani, Donna M. Muzny, Liselotte P. van Hest, Richard A. Gibbs, Lizet E. van der Kolk, Valeria Molinaro
المساهمون: CCA - Cancer biology and immunology, Human genetics, Medical Genetics, Human Genetics, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica, Clinical Genetics, Guided Treatment in Optimal Selected Cancer Patients (GUTS)
المصدر: European Journal of Human Genetics, 25, 11, pp. 1246-1252
European Journal of Human Genetics, 25(11), 1246. Nature Publishing Group
European Journal of Human Genetics, 25(11), 1246-1252. Nature Publishing Group
European journal of human genetics, 25(11), 1246-1252. Nature Publishing Group
European Journal of Human Genetics, 25, 1246-1252
European Journal of Human Genetics
Vogelaar, I P, Van Der Post, R S, Van Krieken, J H J M, Spruijt, L, Van Zelst-Stams, W A G, Kets, C M, Lubinski, J, Jakubowska, A, Teodorczyk, U, Aalfs, C M, Van Hest, L P, Pinheiro, H, Oliveira, C, Jhangiani, S N, Muzny, D M, Gibbs, R A, Lupski, J R, De Ligt, J, Vissers, L E L M, Hoischen, A, Gilissen, C, Van De Vorst, M, Goeman, J J, Schackert, H K, Ranzani, G N, Molinaro, V, García, E B G, Hes, F J, Holinski-Feder, E, Genuardi, M, Ausems, M G E M, Sijmons, R H, Wagner, A, Van Der Kolk, L E, Bjørnevoll, I, Høberg-Vetti, H, Van Kessel, A G, Kuiper, R P, Ligtenberg, M J L & Hoogerbrugge, N 2017, ' Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing ', European Journal of Human Genetics, vol. 25, no. 11, pp. 1246-1252 . https://doi.org/10.1038/ejhg.2017.138Test
European Journal of Human Genetics, 25(11), 1246-1252مصطلحات موضوعية: 0301 basic medicine, Male, Candidate gene, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], VARIANTS, Gene mutation, Bioinformatics, Germline, COLORECTAL-CANCER, 0302 clinical medicine, CDH1 MUTATIONS, Stomach Neoplasms/diagnosis, HISTORY, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Genetics(clinical), Exome, Early Detection of Cancer, DIFFUSE, Genetics (clinical), Exome sequencing, RISK, Genetics, Medicine(all), Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Middle Aged, Cadherins, 3. Good health, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], Sequence Analysis, DNA/methods, 030220 oncology & carcinogenesis, Female, Genetic Testing/methods, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, medicine.medical_specialty, MUTATION CARRIERS, Biology, Article, CLASSIFICATION, 03 medical and health sciences, Germline mutation, SDG 3 - Good Health and Well-being, Stomach Neoplasms, HELICOBACTER-PYLORI, Antigens, CD, RESOURCE, Molecular genetics, Genetic predisposition, medicine, Journal Article, Humans, Genetic Predisposition to Disease, Genetic Testing, Germ-Line Mutation, Aged, Settore MED/06 - ONCOLOGIA MEDICA, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], gastric cancer, Cadherins/genetics, Sequence Analysis, DNA, 030104 developmental biology, Early Detection of Cancer/methods, exome
وصف الملف: application/pdf; image/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8924302c8b22121fd84e066e6595ac39Test
https://doi.org/10.1038/ejhg.2017.138Test -
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المؤلفون: Roland P. Kuiper, Kevin Sweet, Robbert D.A. Weren, Robert Hüneburg, Alois Lang, Jan Lubinski, Hildegunn Høberg-Vetti, Janet R. Vos, Erik A. M. Jansen, Marija Staninova, Barbara Rivera, Stefan Aretz, M. Elisa Vink-Börger, Claire Palles, Noel F C C de Miranda, Daniel D. Buchanan, Wenche Sjursen, William D. Foulkes, Kornelia Neveling, Clara Ruiz-Ponte, Ad Geurts van Kessel, Sue Kenwrick, Renske A. Kuiper, Laura Valle, Aleksandar Dimovski, Judith E. Grolleman, Paul A. James, Isabel Spier, David Cockburn, Maartje Nielsen, Hans Morreau, Hans K. Schackert, Nicoline Hoogerbrugge, Tom van Wezel, Helen Lindsay, Ian G. Campbell, Isabell Popp, Dagmara Dymerska, Na Li, Rolf H. Sijmons, Frederik J. Hes, Marjolijn J. L. Ligtenberg, Marjolijn C.J. Jongmans, Detlev Schindler, Ian Tomlinson, Eveline J. Kamping, Mark Clendenning, Olivera Spasic-Boskovic, Richarda M. de Voer, Sanne W. ten Broeke, Julian Adlard, Gabriel Capellá, Fadwa A. Elsayed
المساهمون: Faculty of Economic and Social Sciences and Solvay Business School, Medical Genetics, Guided Treatment in Optimal Selected Cancer Patients (GUTS), Department of Health and Life Sciences
المصدر: Cancer Cell, 35, 256
Cancer Cell, 35, 2, pp. 256
Cancer Cell, 35(2), 256-+. CELL PRESS
Cancer cell, 35(2), 256-266.e5. CELL PRESS
Cancer Cell, 35(2), 256. Cell Pressمصطلحات موضوعية: 0301 basic medicine, Male, Cancer Research, Heredity, DNA Repair, Colorectal cancer, DNA Mutational Analysis, Germline, Tumours of the digestive tract Radboud Institute for Health Sciences [Radboudumc 14], 0302 clinical medicine, Risk Factors, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], NTHL1, RISK, Medicine(all), LYNCH SYNDROME, somatic mutation spectrum, GERMLINE MUTATIONS, mutational signature, Middle Aged, CANCER, Lynch syndrome, adenomatous polyposis, Pedigree, Europe, Gene Expression Regulation, Neoplastic, POLYPOSIS, Phenotype, Oncology, 030220 oncology & carcinogenesis, Female, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Adult, MUTYH, colorectal cancer, Biology, Risk Assessment, base excision repair, DNA repair defect, 03 medical and health sciences, Deoxyribonuclease (Pyrimidine Dimer), Young Adult, Germline mutation, All institutes and research themes of the Radboud University Medical Center, breast cancer, Neoplastic Syndromes, Hereditary, medicine, Genetic predisposition, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, Germ-Line Mutation, Aged, SPECTRUM, Gene Expression Profiling, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Cancer, multiple malignancies, Cell Biology, medicine.disease, 030104 developmental biology, Cancer research, Transcriptome, genetic predisposition
وصف الملف: application/pdf; image/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e7a191df5b2b52ec2765c8cffd8e40cTest
https://doi.org/10.1016/j.ccell.2018.12.011Test -
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المؤلفون: Heather Hampel, Jerneja Tomsic, Brittany C. Thomas, Stephen B. Gruber, Elke Holinski-Feder, Stephen N. Thibodeau, Alessandra Viel, Monika Morak, Sandya Liyanarachchi, Albert de la Chapelle, Victoria M. Raymond, Anu Chittenden, Hans K. Schackert, Sapna Syngal
المصدر: International Journal of Cancer. 130:2088-2095
مصطلحات موضوعية: Adult, Male, Proband, Heterozygote, Cancer Research, Biology, MLH1, Polymorphism, Single Nucleotide, Article, Germany, medicine, Humans, Missense mutation, Genetic Predisposition to Disease, Allele, Alleles, Adaptor Proteins, Signal Transducing, Aged, Genetics, Splice site mutation, Haplotype, Nuclear Proteins, Exons, Middle Aged, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Introns, United States, Lynch syndrome, Haplotypes, Italy, Oncology, Mutation, Mutation (genetic algorithm), Female, RNA Splice Sites, MutL Protein Homolog 1
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::289bf5c9c8531a16ee8c225fb44827d9Test
https://doi.org/10.1002/ijc.26233Test -
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المؤلفون: Beate Häberle, Guido Fitze, Inke R. König, Alexandre Serra, Hans K. Schackert, Dietmar Roesner, Roland Kappler, Meinolf Suttorp
المصدر: Journal of Pediatric Hematology/Oncology. 30:728-732
مصطلحات موضوعية: Homeodomain Proteins, Male, Polymorphism, Genetic, business.industry, Infant, Sequence Analysis, DNA, Hematology, Bioinformatics, Autonomic Diseases, Neuroblastoma, Oncology, Genetic marker, Case-Control Studies, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Humans, Medicine, Female, Genetic Predisposition to Disease, Child, business, Autonomic neuron, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da03d45ad7d4efccaef357f2e4123102Test
https://doi.org/10.1097/mph.0b013e3181772141Test -
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المؤلفون: Hans K. Schackert, Barbara Noack, Thomas Hoffmann, Heike Görgens
المصدر: Journal of Clinical Periodontology. 33:779-783
مصطلحات موضوعية: Adult, Male, Guanine, Glycine, Nod2 Signaling Adaptor Protein, Disease, Biology, Arginine, medicine.disease_cause, Cytosine, chemistry.chemical_compound, Exon, Gene Frequency, medicine, Humans, Aggressive periodontitis, Genetic Predisposition to Disease, Periodontitis, Gene, Genetics, Mutation, Innate immune system, Base Sequence, Tryptophan, Case-control study, Genetic Variation, Exons, Middle Aged, medicine.disease, digestive system diseases, chemistry, Case-Control Studies, Immunology, DNA Transposable Elements, Periodontics, Female, Disease Susceptibility, Thymine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::253d87095e28fac77ac3b5dac82edda4Test
https://doi.org/10.1111/j.1600-051x.2006.00995.xTest