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

المساهمون: Guided Treatment in Optimal Selected Cancer Patients (GUTS), HUS Abdominal Center, Department of Surgery, Genome-Scale Biology (GSB) Research Program, II kirurgian klinikka, ATG - Applied Tumor Genomics, Research Programs Unit, Clinicum, Department of Medical and Clinical Genetics, Dominguez-Valentin, M., Plazzer, J. -P., Sampson, J. R., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Macrae, F., Winship, I. M., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., de Vos tot Nederveen Cappel, W. H., Sijmons, R. H., Nielsen, M., Bertario, L., Bonanni, B., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Della Valle, A., Lopez-Kostner, F., Alvarez, K., Gluck, N., Katz, L., Heinimann, K., Vaccaro, C. A., Nakken, S., Hovig, E., Green, K., Lalloo, F., Hill, J., Vasen, H. F. A., Perne, C., Buttner, R., Gorgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Huneburg, R., Doeberitz, M. V. K., Loeffler, M., Rahner, N., Weitz, J., Steinke-Lange, V., Schmiegel, W., Vangala, D., Crosbie, E. J., Pineda, M., Navarro, M., Brunet, J., Moreira, L., Sanchez, A., Serra-Burriel, M., Mints, M., Kariv, R., Rosner, G., Pinero, T. A., Pavicic, W. H., Kalfayan, P., Ten Broeke, S. W., Mecklin, J. -P., Pylvanainen, K., Renkonen-Sinisalo, L., Lepisto, A., Peltomaki, P., Hopper, J. L., Win, A. K., Buchanan, D. D., Lindor, N. M., Gallinger, S., Marchand, L. L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Therkildsen, C., Hansen, T. V. O., Lindberg, L., Rodland, E. A., Neffa, F., Esperon, P., Tjandra, D., Moslein, G., Seppala, T. T., Moller, P.

المصدر: Journal of Clinical Medicine, 10(13):2856. MDPI AG
Dipòsit Digital de la UB
Universidad de Barcelona
Journal of Clinical Medicine, Vol 10, Iss 2856, p 2856 (2021)
Dominguez-Valentin, M, Plazzer, J P, Sampson, J R, Engel, C, Aretz, S, Jenkins, M A, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Macrae, F, Winship, I M, Thomas, H, Evans, D G, Burn, J, Greenblatt, M, de Vos tot Nederveen Cappel, W H, Sijmons, R H, Nielsen, M, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Lindblom, A, Della Valle, A, Lopez-Kostner, F, Alvarez, K, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Nakken, S, Hovig, E, Green, K, Lalloo, F, Hill, J, Vasen, H F A, Perne, C, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, Doeberitz, M V K, Loeffler, M, Rahner, N, Weitz, J, Steinke-Lange, V, Schmiegel, W, Vangala, D, Crosbie, E J, Pineda, M, Navarro, M, Brunet, J, Moreira, L, Sánchez, A, Serra-Burriel, M, Mints, M, Kariv, R, Rosner, G, Piñero, T A, Pavicic, W H, Kalfayan, P, Ten Broeke, S W, Mecklin, J P, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Peltomäki, P, Hopper, J L, Win, A K, Buchanan, D D, Lindor, N M, Gallinger, S, Marchand, L L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Hansen, T V O, Lindberg, L, Rødland, E A, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Seppälä, T T & Møller, P 2021, ' No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in mlh1 and msh2 : A prospective lynch syndrome database study ', Journal of Clinical Medicine, vol. 10, no. 13, 2856 . https://doi.org/10.3390/jcm10132856
Journal of Clinical Medicine
Dominguez-Valentin, M, Plazzer, J-P, Sampson, J R, Engel, C, Aretz, S, Jenkins, M A, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Macrae, F, Winship, I M, Thomas, H, Evans, D G, Burn, J, Greenblatt, M, de Vos Tot Nederveen Cappel, W H, Sijmons, R H, Nielsen, M, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Lindblom, A, Valle, A D, Lopez-Kostner, F, Alvarez, K, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Nakken, S, Hovig, E, Green, K, Lalloo, F, Hill, J, Vasen, H F A, Perne, C, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Weitz, J, Steinke-Lange, V, Schmiegel, W, Vangala, D, Crosbie, E J, Pineda, M, Navarro, M, Brunet, J, Moreira, L, Sánchez, A, Serra-Burriel, M, Mints, M, Kariv, R, Rosner, G, Piñero, T A, Pavicic, W H, Kalfayan, P, Broeke, S W T, Mecklin, J-P, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Peltomäki, P, Hopper, J L, Win, A K, Buchanan, D D, Lindor, N M, Gallinger, S, Marchand, L L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Hansen, T V O, Lindberg, L, Rødland, E A, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Seppälä, T T & Møller, P 2021, ' No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2 : A Prospective Lynch Syndrome Database Study ', Journal of Clinical Medicine, vol. 10, no. 13, 2856 . https://doi.org/10.3390/jcm10132856
Evans, D G, Crosbie, E, Hill, J & et al. 2021, ' No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database study ', Journal of Clinical Medicine, vol. 10, no. 13, 2856 . https://doi.org/10.3390/jcm10132856
Volume 10
Issue 13
Journal of Clinical Medicine, 10(13). MDPI

مصطلحات موضوعية: cancer incidence, 0302 clinical medicine, Malalties hereditàries, Missense mutation, 8Q23.3, Càncer, Cancer, Genetics, 0303 health sciences, medicine.diagnostic_test, Factors de risc en les malalties, MISMATCH REPAIR GENES, MLH1, General Medicine, Penetrance, Lynch syndrome, 3. Good health, syöpägeenit, 030220 oncology & carcinogenesis, Medicine, syöpätaudit, ilmaantuvuus, Genetic diseases, congenital, hereditary, and neonatal diseases and abnormalities, missense, 11Q23.1, Risk factors in diseases, CANCER-RISK, Article, aberrant splicing, 03 medical and health sciences, AGE, medicine, Genetic predisposition, ddc:610, MSH2, Lynchin oireyhtymä, penetrance, 030304 developmental biology, Genetic testing, truncating, perinnölliset taudit, business.industry, MUTATIONS, HMSH2, nutritional and metabolic diseases, medicine.disease, digestive system diseases, 3121 General medicine, internal medicine and other clinical medicine, business

وصف الملف: application/pdf; fulltext

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76a724a577132e178f2435d01b2921fa
https://research.rug.nl/en/publications/f2566b72-3f15-4434-8fa2-7b01e2ee1c88

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/s41436-020-0892-4
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/s41436-019-0596-9
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/s41436-019-0596-9
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/s41436-019-0596-9
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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::347fa11199294fa0eb757b6ff6ba0788
https://vbn.aau.dk/ws/files/394936730/Correction_Dominguez_Valentin_et_al._2020_.pdf

المؤلفون: Karl Heinimann, Sevgi Tercanli, Ekaterina Nosova, Cheryl Y. Gregory-Evans, William T. Gibson, Peter Miny, Jan M. Friedman, Isabel Filges, Elisabeth Bruder, Judith G. Hall, Wyeth W. Wasserman, Benno Röthlisberger, Katelin N. Townsend

المصدر: Clinical Genetics. 86:220-228

مصطلحات موضوعية: Genetics, 0303 health sciences, Candidate gene, Microcephaly, Massive parallel sequencing, Cilium, Biology, medicine.disease, Phenotype, 3. Good health, 03 medical and health sciences, Ciliopathy, 0302 clinical medicine, Cancer research, medicine, Allele, 030217 neurology & neurosurgery, Genetics (clinical), Exome sequencing, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c38fe7c0439e3601b1d9a701c303e645
https://doi.org/10.1111/cge.12301

المؤلفون: Dirk Fischer, Angela Abicht, Karl Heinimann, Michael Sinnreich, Anne-Kathrin Peyer

المصدر: Neuromuscular disorders : NMD

مصطلحات موضوعية: Adult, Quinidine, Neuromuscular Junction, Pharmacology, Neuromuscular junction, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Receptors, Cholinergic, Genetics (clinical), 030304 developmental biology, Acetylcholine receptor, Myasthenic Syndromes, Congenital, 0303 health sciences, Quinine, Fluoxetine, business.industry, Congenital myasthenic syndrome, medicine.disease, 3. Good health, Nicotinic acetylcholine receptor, Treatment Outcome, medicine.anatomical_structure, Neurology, Anesthesia, Mutation, Pediatrics, Perinatology and Child Health, Quinine Sulfate, Female, Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc571338fe798461eb595c29d9958034
https://doi.org/10.1016/j.nmd.2013.04.001

المؤلفون: Katharina Wimmer, Johannes Zschocke, Noemie Staehli, Salvatore Girlando, Ludwine Messiaen, Emanuele Valtorta, Franco Armelao, Giancarlo Marra, Annekatrin Wernstedt, Karl Heinimann, Roberto Togni, Michael Baudis

المصدر: Genes, Chromosomes & Cancer

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Pseudogene, Biology, Polymerase Chain Reaction, 03 medical and health sciences, Exon, 0302 clinical medicine, Germline mutation, Genetics, Humans, Multiplex, Multiplex ligation-dependent probe amplification, Allele, Alleles, Research Articles, Aged, Mismatch Repair Endonuclease PMS2, Neoplasm Staging, 030304 developmental biology, Adenosine Triphosphatases, Aged, 80 and over, Recombination, Genetic, 0303 health sciences, Breakpoint, Intron, DNA, Neoplasm, Middle Aged, digestive system diseases, DNA-Binding Proteins, DNA Repair Enzymes, 030220 oncology & carcinogenesis, Mutation, Female, Colorectal Neoplasms, Nucleic Acid Amplification Techniques, Gene Deletion, Pseudogenes

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7399d01359f4478c66f039350fd11c65
https://doi.org/10.1002/gcc.21966

المؤلفون: Jukka Kantelinen, Reetta Kariola, Minna Nyström, Karl Heinimann, Minttu Kansikas, Saara Ollila, Mari K. Korhonen

المصدر: British Journal of Cancer

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Cancer Research, Mutation, Missense, HNPCC, Spodoptera, Biology, medicine.disease_cause, DNA Mismatch Repair, DNA-binding protein, functional analysis, Substrate Specificity, 03 medical and health sciences, 0302 clinical medicine, INDEL Mutation, medicine, Animals, Humans, Dinucleotide Repeats, Cells, Cultured, 030304 developmental biology, MutSβ, MutS Homolog 2 Protein, Genetics, 0303 health sciences, Mutation, MutSα, Microsatellite instability, Genetics and Genomics, MSH3, HCT116 Cells, medicine.disease, digestive system diseases, DNA-Binding Proteins, MSH6, mismatch repair, Oncology, MSH2, 030220 oncology & carcinogenesis, MutS Homolog 3 Protein, Nucleic Acid Conformation, DNA mismatch repair, HeLa Cells

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a698c94aee5951a085c358d454005618
https://doi.org/10.1038/sj.bjc.6605531

المؤلفون: Patrick Franken, Frans B. L. Hogervorst, Carli M. J. Tops, Riccardo Fodde, Frederik J. Hes, Kathleen Claes, Astrid A. Out, Marie-Pierre Buisine, Stefan Aretz, Shirley Hodgson, Julian R. Sampson, Elke Holinski-Feder, Johan T. den Dunnen, Juul T. Wijnen, Egbert J.W. Redeker, Karl Heinimann, Kristina Lagerstedt-Robinson, Ivonne J. H. M. van Minderhout, Mette Gaustadnes, Maartje Nielsen, Friedrik P. Wikman, Marjan M. Weiss, Chrystelle Colas, Florentia Fostira, Bruno Vankeirsbilck, Ans M.W. van den Ouweland, Rikke Veggerby Grønlund, Peter Devilee, Rodney J. Scott, Sylviane Olschwang, Ivo F.A.C. Fokkema

المساهمون: Clinical sciences, Medical Genetics, ACS - Amsterdam Cardiovascular Sciences, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Other Research, Human Genetics, Pathology, Clinical Genetics

المصدر: Out, A A, Tops, C M J, Nielsen, M, Weiss, M M, van Minderhout, I J H M, Fokkema, I F A C, Buisine, M-P, Claes, K, Colas, C, Fodde, R, Fostira, F, Franken, P F, Gaustadnes, M, Heinimann, K, Hodgson, S V, Hogervorst, F B L, Holinski-Feder, E, Lagerstedt-Robinson, K, Olschwang, S, van den Ouweland, A M W, Redeker, E J W, Scott, R J, Vankeirsbilck, B, Grønlund, R V, Wijnen, J T, Wikman, F P, Aretz, S, Sampson, J R, Devilee, P, den Dunnen, J T & Hes, F J 2010, ' Leiden Open Variation Database of the MUTYH gene ', Human Mutation, vol. 31, no. 11, pp. 1205-15 . https://doi.org/10.1002/humu.21343
Human Mutation, 31(11), 1205-1215
Human mutation, 31(11), 1205-1215. Wiley-Liss Inc.
Human Mutation; Vol 31
Human Mutation, 31(11), 1205-1215. Wiley-Liss Inc.

مصطلحات موضوعية: MUTYH, In silico, Molecular Sequence Data, polyposis, Biology, DNA Glycosylases, Database, 03 medical and health sciences, 0302 clinical medicine, Genotype-phenotype distinction, MUTYH database polyposis variants genetic counseling excision-repair gene myh-associated polyposis colorectal-cancer risk oxidative dna-damage homolog hmyh functional-characterization germline mutations inherited variants gastric-cancer subcellular-localization, SDG 3 - Good Health and Well-being, Genetic variation, Databases, Genetic, Humans, Protein Isoforms, genetics, Genetics(clinical), Genetic Predisposition to Disease, Amino Acid Sequence, Genetics (clinical), Genetic Association Studies, 030304 developmental biology, Netherlands, Genetics, 0303 health sciences, variants, genetic counseling, Base Sequence, MUTYH-Associated Polyposis, Genetic Variation, DNA, Molecular diagnostics, 3. Good health, Protein Structure, Tertiary, Alternative Splicing, Adenomatous Polyposis Coli, 030220 oncology & carcinogenesis, Mutation, Leiden Open Variation Database, Reference genome

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad253e5fbd209d208e41316c0ddef819
https://hdl.handle.net/1765/21496

المؤلفون: Sandro J. Stoeckli, Jeannette Greiner, Daniel S. Engeler, Michael Brändle, Christian Rothermundt, Silke Gillessen, Michael Christian Sulz, Karin van Leyen, Johannes Weber, Claudia Hader, Isabelle Binet, Thomas Hundsberger, Patrik Kloos, W. Krek, Ina Krull, Karl Heinimann, Sabine Schmid

المصدر: Schmid, S, Gillessen, S, Binet, I, Brändle, M, Engeler, D, Greiner, J, Hader, C, Heinimann, K, Kloos, P, Krek, W, Krull, I, Stoeckli, S J, Sulz, M C, van Leyen, K, Weber, J, Rothermundt, C & Hundsberger, T 2014, ' Management of von hippel-lindau disease : an interdisciplinary review ', Oncology Research and Treatment, vol. 37, no. 12, pp. 761-71 . https://doi.org/10.1159/000369362
Oncology research and treatment

مصطلحات موضوعية: Cancer Research, Pediatrics, medicine.medical_specialty, Pathology, von Hippel-Lindau Disease, Genetic counseling, MEDLINE, Disease, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, medicine, Screening programs, Humans, Von Hippel–Lindau disease, 030304 developmental biology, Genetic testing, 0303 health sciences, medicine.diagnostic_test, Manchester Cancer Research Centre, business.industry, von Hippel-Lindau Disease/diagnosis, Incidence (epidemiology), ResearchInstitutes_Networks_Beacons/mcrc, Hematology, medicine.disease, 3. Good health, Oncology, 030220 oncology & carcinogenesis, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69409d9f2206b07f562da7ddeb0c7d60
https://pubmed.ncbi.nlm.nih.gov/25765507

المؤلفون: Jenny C. Taylor, Kimberley Howarth, Kulvinder Kaur, Annabelle Lewis, Huw Thomas, Hayley Davis, Emma Jaeger, Pedro Rodenas Cuadrado, Karl Heinimann, James E. East, Simon J. Leedham, Martin Becker, Ian Tomlinson, Stefania Segditsas

المصدر: Nature genetics
Nature Genetics

مصطلحات موضوعية: 0303 health sciences, Locus (genetics), Biology, medicine.disease_cause, Bone morphogenetic protein, Molecular biology, Article, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, Gene mapping, 030220 oncology & carcinogenesis, Gene expression, Gene duplication, Genetics, medicine, Ectopic expression, Carcinogenesis, Gene, 030304 developmental biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a934cc4709aa6e295e2ae6f405a2e44c
http://ora.ox.ac.uk/objects/uuid:da5adec5-c3e9-4a21-8aa1-6d4e4df3f236

المؤلفون: Stefanie Kalt, Mauro Delorenzi, Monika E. Hegi, Pierre Bady, Annie-Claire Diserens, Vincent Castella, Karl Heinimann, Marie-France Hamou

المصدر: Neuro-Oncology
Neuro-oncology

مصطلحات موضوعية: Cancer Research, Biology, medicine.disease_cause, Polymerase Chain Reaction, law.invention, Loss of heterozygosity, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Similarity (network science), law, Glioma, medicine, Biomarkers, Tumor, Tumor Cells, Cultured, Humans, Polymerase chain reaction, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, Brain Neoplasms, DNA, Neoplasm, medicine.disease, DNA Fingerprinting, 3. Good health, Editorial, Oncology, chemistry, DNA profiling, 030220 oncology & carcinogenesis, Microsatellite, Neurology (clinical), DNA, Microsatellite Repeats

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39a1d1bd66cfb6304c3e76814c1bef4c
https://pubmed.ncbi.nlm.nih.gov/22669103