Zobrazeno 41 - 50
of 221
pro vyhledávání: '"Julian R. Sampson"'
Autor:
Michael Hoffmeister, Gabriel Capellá, Finlay A. Macrae, John Burn, Rodney J. Scott, Hendrik Bläker, Christoph Engel, Gabriela Möslein, Robert Hüneburg, Hermann Brenner, Maartje Nielsen, Magnus von Knebel Doeberitz, Jacob Nattermann, Sanne W. ten Broeke, Verena Steinke-Lange, Luigi Laghi, Toni T. Seppälä, Jukka-Pekka Mecklin, Richard Gallon, Julian R. Sampson, Elke Holinski-Feder, Aysel Ahadova, Pål Møller, Matthias Kloor, Mev Dominguez-Valentin, Hans F. A. Vasen
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
International Journal of Cancer, 148(4), 800-811. WILEY
Universidad de Barcelona
International Journal of Cancer, 148(4), 800-811. WILEY
Individuals with Lynch syndrome (LS), one of the most common inherited cancer syndromes, are at increased risk of developing malignancies, in particular colorectal cancer (CRC). Regular colonoscopy with polypectomy is recommended to reduce CRC risk i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1f6c55ed42ac9ba434bef870bccac2e
http://urn.fi/URN:NBN:fi:jyu-202102151646
http://urn.fi/URN:NBN:fi:jyu-202102151646
Autor:
Christiane A. Opitz, Ulrike Rehbein, Laura Brohée, Aurelio A. Teleman, Alexander Martin Heberle, Constantinos Demetriades, Marti Cadena Sandoval, Wilhelm Palm, Jose Miguel Ramos Pittol, Matylda Macias, Saskia Trump, Katharina Kern, Bianca Berdel, Andreas von Deimling, Birgit Holzwarth, Bernadette Carroll, Ines Heiland, Ann-Sofie De Meulemeester, Mirja Tamara Prentzell, Aleksandra Siekierska, Kathrin Thedieck, Jacek Jaworski, Mark Nellist, Hannah West, Mariana E. G. de Araujo, Mathias Bockwoldt, Eduard Stefan, Friederike Reuter, Michèle Reil, Andrii Kopach, Sandra Woltering, Suvagata Roy Chowdhury, Stefan Pusch, Viktor I. Korolchuk, Ralf Baumeister, Magdalena Kedra, Justyna Zmorzynska, Julian R. Sampson, Teodor E. Yordanov, Ineke van 't Land-Kuper, Chloë Scheldeman, Omar Torres-Quesada, Anja Reintjes, Lukas A. Huber, Gianluca Figlia, Peter de Witte, Laura E. Thomas
Publikováno v:
Cell
2021, ' G3BPs tether the TSC complex to lysosomes and suppress mTORC1 signaling ', Cell, vol. 184, no. 3, pp. 655-674.e27 . https://doi.org/10.1016/j.cell.2020.12.024
Cell, 184(3), 655-674.e27. Cell Press
Cell, 184(3), 655-674.e27. CELL PRESS
2021, ' G3BPs tether the TSC complex to lysosomes and suppress mTORC1 signaling ', Cell, vol. 184, no. 3, pp. 655-674.e27 . https://doi.org/10.1016/j.cell.2020.12.024
Cell, 184(3), 655-674.e27. Cell Press
Cell, 184(3), 655-674.e27. CELL PRESS
Summary Ras GTPase-activating protein-binding proteins 1 and 2 (G3BP1 and G3BP2, respectively) are widely recognized as core components of stress granules (SGs). We report that G3BPs reside at the cytoplasmic surface of lysosomes. They act in a non-r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd1988cff1d6a25e654c51d5e842f355
https://hdl.handle.net/10037/21857
https://hdl.handle.net/10037/21857
Autor:
Vassilis, Ragoussis, Alistair T, Pagnamenta, Rebecca L, Haines, Edoardo, Giacopuzzi, Martin A, McClatchey, Julian R, Sampson, Mohnish, Suri, Alice, Gardham, Jan-Maarten, Cobben, Deborah, Osio, Andrew E, Fry, M, Zarowiecki
Publikováno v:
Journal of medical genetics. 59(4)
Autor:
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
Publikováno v:
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
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
Lynch syndrome (LS) results from pathogenic variants in the mismatch repair (MMR) genes and is the most common hereditary cancer syndrome, affecting an estimated 1 in 300 individuals. Pathogenic variants in each of the MMR genes path_MLH1, path_MSH2,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::347fa11199294fa0eb757b6ff6ba0788
https://vbn.aau.dk/ws/files/394936730/Correction_Dominguez_Valentin_et_al._2020_.pdf
https://vbn.aau.dk/ws/files/394936730/Correction_Dominguez_Valentin_et_al._2020_.pdf
Autor:
Katy Barwick, F. Lucy Raymond, Pia Zacher, Saskia B. Wortmann, Koen L.I. van Gassen, Michaela Bonfert, Bernt Popp, Eva H. Brilstra, Marie-José van den Bogaard, Alyssa Gates, Johan Lundgren, Dewi P. Bakker, Ashley C. Taylor, Alba Sanchis-Juan, Rikke S. Møller, Jessica Van Ziffle, Matias Wagner, Anne Slavotinek, Heather C Mefford, Heinrich Sticht, Joseph T. Shieh, Manju A. Kurian, Marwan Shinawi, Patrick Devine, Boris Keren, Konrad Platzer, Gabriella Horvath, Jennifer Keller-Ramey, Kathleen A. Leppig, Nicholas Stong, Alexandrea Wadley, Tomi L. Toler, Julian R. Sampson, Richard H. van Jaarsveld, Caroline Nava, Saskia N. van der Crabben, Jennifer Friedman, Mohamad A. Mikati, Marie T. McDonald, Vandana Shashi, Angus John Clarke, Wendy K. Chung, Amy McTague, Johannes R. Lemke, Tommy Stödberg, Jennifer A. Sullivan, Chiara Klöckner, Virgina Lee, Cyril Mignot
PurposeThis study aims to provide the first comprehensive description of the phenotypic and genotypic spectrum of SNAP25 developmental and epileptic encephalopathy (SNAP25- DEE) by reviewing newly identified and previously reported individuals.Method
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c125b7fb86b331202a9de8aac34de06e
Autor:
Marwan Shinawi, Jessica Van Ziffle, Carsten G. Bönnemann, Mohamad A. Mikati, Vandana Shashi, Konrad Platzer, Manju A. Kurian, Katy Barwick, Kathleen A. Leppig, Patrick Devine, F. Lucy Raymond, Tomi L. Toler, Johan Lundgren, Koen L.I. van Gassen, Anne Slavotinek, Saskia N. van der Crabben, Wendy K. Chung, Richard H. van Jaarsveld, Matias Wagner, Rikke S. Møller, Marie T. McDonald, Pia Zacher, Kristen Wigby, Heather C Mefford, Dewi P. Bakker, Jennifer Friedman, Angus John Clarke, Joseph T. Shieh, Holly E. Babcock, Julian R. Sampson, Amy McTague, Jamal Ghoumid, Bernt Popp, Saskia B. Wortmann, Emma Hobson, Michaela Bonfert, Gabriella Horvath, Chiara Klöckner, Virgina Lee, Cyril Mignot, Yuri A. Zarate, Jennifer A. Sullivan, Marie-José H. van den Boogaard, Johannes R. Lemke, Alba Sanchis-Juan, Tommy Stödberg, Heinrich Sticht, Eva H. Brilstra, Alyssa Gates, Caroline Nava, Nicholas Stong, Sandra Donkervoort, Alexandrea Wadley, Boris Keren, Jamie L. Fraser, Ashley C. Taylor, Jennifer Keller-Ramey
Publikováno v:
Genet. Med., DOI: 10.1038/s41436-020-01020-w (2020)
Care4Rare Canada Consortium 2021, ' De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy ', Genetics in Medicine, vol. 23, no. 4, pp. 653-660 . https://doi.org/10.1038/s41436-020-01020-w
Klöckner, C, Sticht, H, Zacher, P, Popp, B, Babcock, H E, Bakker, D P, Barwick, K, Bonfert, M V, Bönnemann, C G, Brilstra, E H, Chung, W K, Clarke, A J, Devine, P, Donkervoort, S, Fraser, J L, Friedman, J, Gates, A, Ghoumid, J, Hobson, E, Horvath, G, Keller-Ramey, J, Keren, B, Kurian, M A, Lee, V, Leppig, K A, Lundgren, J, McDonald, M T, McTague, A, Mefford, H C, Mignot, C, Mikati, M A, Nava, C, Raymond, F L, Sampson, J R, Sanchis-Juan, A, Shashi, V, Shieh, J T C, Shinawi, M, Slavotinek, A, Stödberg, T, Stong, N, Sullivan, J A, Taylor, A C, Toler, T L, van den Boogaard, M J, van der Crabben, S N, van Gassen, K L I, van Jaarsveld, R H, Van Ziffle, J, Møller, R S & Care4Rare Canada Consortium 2021, ' De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy ', Genetics in Medicine, vol. 23, no. 4, pp. 653-660 . https://doi.org/10.1038/s41436-020-01020-w
Genetics in medicine, 23(4), 653-660. Lippincott Williams and Wilkins
Genetics in Medicine, 23(4), 653-660. Lippincott Williams and Wilkins
Care4Rare Canada Consortium 2021, ' De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy ', Genetics in Medicine, vol. 23, no. 4, pp. 653-660 . https://doi.org/10.1038/s41436-020-01020-w
Klöckner, C, Sticht, H, Zacher, P, Popp, B, Babcock, H E, Bakker, D P, Barwick, K, Bonfert, M V, Bönnemann, C G, Brilstra, E H, Chung, W K, Clarke, A J, Devine, P, Donkervoort, S, Fraser, J L, Friedman, J, Gates, A, Ghoumid, J, Hobson, E, Horvath, G, Keller-Ramey, J, Keren, B, Kurian, M A, Lee, V, Leppig, K A, Lundgren, J, McDonald, M T, McTague, A, Mefford, H C, Mignot, C, Mikati, M A, Nava, C, Raymond, F L, Sampson, J R, Sanchis-Juan, A, Shashi, V, Shieh, J T C, Shinawi, M, Slavotinek, A, Stödberg, T, Stong, N, Sullivan, J A, Taylor, A C, Toler, T L, van den Boogaard, M J, van der Crabben, S N, van Gassen, K L I, van Jaarsveld, R H, Van Ziffle, J, Møller, R S & Care4Rare Canada Consortium 2021, ' De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy ', Genetics in Medicine, vol. 23, no. 4, pp. 653-660 . https://doi.org/10.1038/s41436-020-01020-w
Genetics in medicine, 23(4), 653-660. Lippincott Williams and Wilkins
Genetics in Medicine, 23(4), 653-660. Lippincott Williams and Wilkins
Purpose\ud This study aims to provide a comprehensive description of the phenotypic and genotypic spectrum of SNAP25 developmental and epileptic encephalopathy (SNAP25-DEE) by reviewing newly identified and previously reported individuals.\ud \ud Met
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfca6748143067988ef44bdb8b93decc
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60808
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=60808
Autor:
Finlay A. Macrae, Toni T. Seppälä, Gillian M. Borthwick, Anne-Marie Gerdes, D. Gareth Evans, Fiona E McRonald, Lynn Reed, Huw Thomas, Julian R. Sampson, Jackie Cook, Shirley Hodgson, Mary Porteous, Jukka-Pekka Mecklin, Lucy Side, Anthony Ellis, John Burn, Carole Brewer, Lucio Bertario, Kirsi Pylvänäinen, D. Timothy Bishop, Diana Eccles, Alex Boussioutas, Faye Elliott, Rodney J. Scott, Jem Rashbass, Patrick J. Morrison, Harsh Sheth, Gabriela Möslein, Raj Ramesar, John C. Mathers, Jan Lubinski, Annika Lindblom, Judy W. C. Ho, Eamonn R. Maher
Publikováno v:
Burn, J, Sheth, H, Elliott, F, Reed, L, Macrae, F, Mecklin, J P, Möslein, G, McRonald, F E, Bertario, L, Evans, D G, Gerdes, A M, Ho, J W C, Lindblom, A, Morrison, P J, Rashbass, J, Ramesar, R, Seppälä, T, Thomas, H J W, Pylvänäinen, K, Borthwick, G M, Mathers, J C, Bishop, D T, Boussioutas, A, Brewer, C, Cook, J, Eccles, D, Ellis, A, Hodgson, S V, Lubinski, J, Maher, E R, Porteous, M EM, Sampson, J, Scott, R J, Side, L & CAPP2 Investigators 2020, ' Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study : a double-blind, randomised, placebo-controlled trial ', The Lancet, vol. 395, no. 10240, pp. 1855-1863 . https://doi.org/10.1016/S0140-6736(20)30366-4
Evans, D G & et al. 2020, ' Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study : a double-blind, randomised, placebo-controlled trial ', Lancet, vol. 395, no. 10240, pp. 1855-1863 . https://doi.org/10.1016/S0140-6736(20)30366-4
Evans, D G & et al. 2020, ' Cancer prevention with aspirin in hereditary colorectal cancer (Lynch syndrome), 10-year follow-up and registry-based 20-year data in the CAPP2 study : a double-blind, randomised, placebo-controlled trial ', Lancet, vol. 395, no. 10240, pp. 1855-1863 . https://doi.org/10.1016/S0140-6736(20)30366-4
BACKGROUND: Lynch syndrome is associated with an increased risk of colorectal cancer and with a broader spectrum of cancers, especially endometrial cancer. In 2011, our group reported long-term cancer outcomes (mean follow-up 55·7 months [SD 31·4])
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b883398de7c0cc7e549ca68d176f77a1
https://curis.ku.dk/portal/da/publications/cancer-prevention-with-aspirin-in-hereditary-colorectal-cancer-lynch-syndrome-10year-followup-and-registrybased-20year-data-in-the-capp2-study(731041a4-aa9f-42c7-b9db-83326e8b4a6d).html
https://curis.ku.dk/portal/da/publications/cancer-prevention-with-aspirin-in-hereditary-colorectal-cancer-lynch-syndrome-10year-followup-and-registrybased-20year-data-in-the-capp2-study(731041a4-aa9f-42c7-b9db-83326e8b4a6d).html
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 22(4)
Autor:
Toni T. Seppälä, Sigve Nakken, Fiona Lalloo, Joan Vidal, Eivind Hovig, Ingrid Winship, Rodney J. Scott, Karina Rønlund, Magnus von Knebel Doeberitz, Julian R. Sampson, Lior H. Katz, Inge Bernstein, Matthias Kloor, Kirsi Pylvänäinen, Gabriela Möslein, Kate Green, Marta Pineda, Finlay A. Macrae, John Burn, Noralane M. Lindor, Huw Thomas, Pål Møller, Laura Renkonen-Sinisalo, Mette Karen Yilmaz, Emma J Crosbie, Anna Lepistö, Louise Laurberg Elvang, Aysel Ahadova, Jukka-Pekka Mecklin, Gabriel Capellá, Mev Dominguez-Valentin, John-Paul Plazzer, Verena Steinke-Lange, James Hill, Annika Lindblom, Sanne W. ten Broeke, D. Gareth Evans, Randi Thyregaard Nielsen, Lone Sunde, Douglas Tjandra, Maartje Nielsen, Elke Holinski-Feder, Matilde Navarro
Publikováno v:
Dominguez-Valentin, M, Seppälä, T T, Sampson, J R, Macrae, F, Winship, I, Evans, D G, Scott, R J, Burn, J, Möslein, G, Bernstein, I, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Lindblom, A, Plazzer, J-P, Tjandra, D, Thomas, H, Green, K, Lalloo, F, Crosbie, E J, Hill, J, Capella, G, Pineda, M, Navarro, M, Vidal, J B, Rønlund, K, Nielsen, R T, Yilmaz, M, Elvang, L L, Katz, L, Nielsen, M, Ten Broeke, S W, Nakken, S, Hovig, E, Sunde, L, Kloor, M, Knebel Doeberitz, M V, Ahadova, A, Lindor, N, Steinke-Lange, V, Holinski-Feder, E, Mecklin, J-P & Møller, P 2019, ' Survival by colon cancer stage and screening interval in Lynch syndrome : a prospective Lynch syndrome database report ', Hereditary Cancer in Clinical Practice, vol. 17, no. 1, 28, pp. 1-6 . https://doi.org/10.1186/s13053-019-0127-3
Dipòsit Digital de la UB
Universidad de Barcelona
Hereditary Cancer in Clinical Practice
Dominguez-Valentin, M, Seppälä, T T, Sampson, J R, MacRae, F, Winship, I, Evans, D G, Scott, R J, Burn, J, Möslein, G, Bernstein, I, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Lindblom, A, Plazzer, J P, Tjandra, D, Thomas, H, Green, K, Lalloo, F, Crosbie, E J, Hill, J, Capella, G, Pineda, M, Navarro, M, Vidal, J B, Rønlund, K, Nielsen, R T, Yilmaz, M, Elvang, L L, Katz, L, Nielsen, M, Ten Broeke, S W, Nakken, S, Hovig, E, Sunde, L, Kloor, M, Knebel Doeberitz, M V, Ahadova, A, Lindor, N, Steinke-Lange, V, Holinski-Feder, E, Mecklin, J P & Møller, P 2019, ' Survival by colon cancer stage and screening interval in Lynch syndrome : A prospective Lynch syndrome database report ', Hereditary Cancer in Clinical Practice, vol. 17, 28 . https://doi.org/10.1186/s13053-019-0127-3
Dominguez-Valentin, M, Seppälä, T T, Sampson, J R, MacRae, F, Winship, I, Evans, D G, Scott, R J, Burn, J, Möslein, G, Bernstein, I, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Lindblom, A, Plazzer, J P, Tjandra, D, Thomas, H, Green, K, Lalloo, F, Crosbie, E J, Hill, J, Capella, G, Pineda, M, Navarro, M, Vidal, J B, Rønlund, K, Nielsen, R T, Yilmaz, M, Elvang, L L, Katz, L, Nielsen, M, Ten Broeke, S W, Nakken, S, Hovig, E, Sunde, L, Kloor, M, Knebel Doeberitz, M V, Ahadova, A, Lindor, N, Steinke-Lange, V, Holinski-Feder, E, Mecklin, J P & Møller, P 2019, ' Survival by colon cancer stage and screening interval in Lynch syndrome : A prospective Lynch syndrome database report ', Hereditary Cancer in Clinical Practice, vol. 17, no. 1, 28 . https://doi.org/10.1186/s13053-019-0127-3
Hereditary Cancer in Clinical Practice, Vol 17, Iss 1, Pp 1-6 (2019)
Evans, D G, Crosbie, E, Hill, J & et al. 2019, ' Survival by colon cancer stage and screening interval in Lynch Syndrome: a Prospective Lynch Syndrome Database report ', Hereditary cancer in clinical practice . https://doi.org/10.1186/s13053-019-0127-3
Dipòsit Digital de la UB
Universidad de Barcelona
Hereditary Cancer in Clinical Practice
Dominguez-Valentin, M, Seppälä, T T, Sampson, J R, MacRae, F, Winship, I, Evans, D G, Scott, R J, Burn, J, Möslein, G, Bernstein, I, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Lindblom, A, Plazzer, J P, Tjandra, D, Thomas, H, Green, K, Lalloo, F, Crosbie, E J, Hill, J, Capella, G, Pineda, M, Navarro, M, Vidal, J B, Rønlund, K, Nielsen, R T, Yilmaz, M, Elvang, L L, Katz, L, Nielsen, M, Ten Broeke, S W, Nakken, S, Hovig, E, Sunde, L, Kloor, M, Knebel Doeberitz, M V, Ahadova, A, Lindor, N, Steinke-Lange, V, Holinski-Feder, E, Mecklin, J P & Møller, P 2019, ' Survival by colon cancer stage and screening interval in Lynch syndrome : A prospective Lynch syndrome database report ', Hereditary Cancer in Clinical Practice, vol. 17, 28 . https://doi.org/10.1186/s13053-019-0127-3
Dominguez-Valentin, M, Seppälä, T T, Sampson, J R, MacRae, F, Winship, I, Evans, D G, Scott, R J, Burn, J, Möslein, G, Bernstein, I, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Lindblom, A, Plazzer, J P, Tjandra, D, Thomas, H, Green, K, Lalloo, F, Crosbie, E J, Hill, J, Capella, G, Pineda, M, Navarro, M, Vidal, J B, Rønlund, K, Nielsen, R T, Yilmaz, M, Elvang, L L, Katz, L, Nielsen, M, Ten Broeke, S W, Nakken, S, Hovig, E, Sunde, L, Kloor, M, Knebel Doeberitz, M V, Ahadova, A, Lindor, N, Steinke-Lange, V, Holinski-Feder, E, Mecklin, J P & Møller, P 2019, ' Survival by colon cancer stage and screening interval in Lynch syndrome : A prospective Lynch syndrome database report ', Hereditary Cancer in Clinical Practice, vol. 17, no. 1, 28 . https://doi.org/10.1186/s13053-019-0127-3
Hereditary Cancer in Clinical Practice, Vol 17, Iss 1, Pp 1-6 (2019)
Evans, D G, Crosbie, E, Hill, J & et al. 2019, ' Survival by colon cancer stage and screening interval in Lynch Syndrome: a Prospective Lynch Syndrome Database report ', Hereditary cancer in clinical practice . https://doi.org/10.1186/s13053-019-0127-3
Background We previously reported that in pathogenic mismatch repair (path_MMR) variant carriers, the incidence of colorectal cancer (CRC) was not reduced when colonoscopy was undertaken more frequently than once every 3 years, and that CRC stage and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afc56813ec7cac0e17f7790501af86d9
https://vbn.aau.dk/da/publications/3819d5ca-ad58-47bc-bd2e-64baf923c504
https://vbn.aau.dk/da/publications/3819d5ca-ad58-47bc-bd2e-64baf923c504
Highly valued across the world by genetic counsellors, medical geneticists and other healthcare professionals, Harper's Practical Genetic Counselling has established itself over previous editions as the essential guide to counselling those at risk fr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8efddbf4c547d1fde1b71e77bfa869b4
https://doi.org/10.1201/9780367371944
https://doi.org/10.1201/9780367371944