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1.

Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.

Dominguez-Valentin, Mev; Crosbie, Emma J; Engel, Christoph; Aretz, Stefan; Macrae, Finlay; Winship, Ingrid; Capella, Gabriel; Thomas, Huw; Nakken, Sigve; Hovig, Eivind; Nielsen, Maartje; Sijmons, Rolf H; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Mints, Miriam; Gluck, Nathan; Katz, Lior; Heinimann, Karl; Vaccaro, Carlos A; Green, Kate; Lalloo, Fiona; Hill, James; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Strauß, Hans-Georg; Tecklenburg, Johanna; Holinski-Feder, Elke; Steinke-Lange, Verena; Mecklin, Jukka-Pekka; Plazzer, John-Paul; Pineda, Marta; Navarro, Matilde; Vidal, Joan Brunet; Kariv, Revital; Rosner, Guy; Piñero, Tamara Alejandra; Gonzalez, María Laura; Kalfayan, Pablo; Ryan, Neil; Ten Broeke, Sanne W; Jenkins, Mark A; Sunde, Lone; Bernstein, Inge; Burn, John; Greenblatt, Marc; de Vos Tot Nederveen Cappel, Wouter H; Della Valle, Adriana.

Genet Med ; 23(4): 705-712, 2021 04.

Artículo en Inglés | MEDLINE | ID: mdl-33257847

2.

Genetic variant interpretation: a primer for clinicians.

Kaushik, Varun; Plazzer, John-Paul; Winship, Ingrid; Macrae, Finlay.

Intern Med J ; 51(9): 1401-1406, 2021 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-34541770

3.

Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.

Dominguez-Valentin, Mev; Sampson, Julian R; Seppälä, Toni T; Ten Broeke, Sanne W; Plazzer, John-Paul; Nakken, Sigve; Engel, Christoph; Aretz, Stefan; Jenkins, Mark A; Sunde, Lone; Bernstein, Inge; Capella, Gabriel; Balaguer, Francesc; Thomas, Huw; Evans, D Gareth; Burn, John; Greenblatt, Marc; Hovig, Eivind; de Vos Tot Nederveen Cappel, Wouter H; Sijmons, Rolf H; Bertario, Lucio; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Lindblom, Annika; Della Valle, Adriana; Lopez-Köstner, Francisco; Gluck, Nathan; Katz, Lior H; Heinimann, Karl; Vaccaro, Carlos A; Büttner, Reinhard; Görgens, Heike; Holinski-Feder, Elke; Morak, Monika; Holzapfel, Stefanie; Hüneburg, Robert; Knebel Doeberitz, Magnus von; Loeffler, Markus; Rahner, Nils; Schackert, Hans K; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Pylvänäinen, Kirsi; Renkonen-Sinisalo, Laura; Hopper, John L; Win, Aung Ko; Haile, Robert W; Lindor, Noralane M; Gallinger, Steven.

Genet Med ; 22(1): 15-25, 2020 01.

Artículo en Inglés | MEDLINE | ID: mdl-31337882

4.

Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.

Dominguez-Valentin, Mev; Sampson, Julian R; Seppälä, Toni T; Ten Broeke, Sanne W; Plazzer, John-Paul; Nakken, Sigve; Engel, Christoph; Aretz, Stefan; Jenkins, Mark A; Sunde, Lone; Bernstein, Inge; Capella, Gabriel; Balaguer, Francesc; Thomas, Huw; Evans, D Gareth; Burn, John; Greenblatt, Marc; Hovig, Eivind; de Vos Tot Nederveen Cappel, Wouter H; Sijmons, Rolf H; Bertario, Lucio; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Lindblom, Annika; Della Valle, Adriana; Lopez-Köstner, Francisco; Gluck, Nathan; Katz, Lior H; Heinimann, Karl; Vaccaro, Carlos A; Büttner, Reinhard; Görgens, Heike; Holinski-Feder, Elke; Morak, Monika; Holzapfel, Stefanie; Hüneburg, Robert; Knebel Doeberitz, Magnus von; Loeffler, Markus; Rahner, Nils; Schackert, Hans K; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Pylvänäinen, Kirsi; Renkonen-Sinisalo, Laura; Hopper, John L; Win, Aung Ko; Haile, Robert W; Lindor, Noralane M; Gallinger, Steven.

Genet Med ; 22(9): 1569, 2020 Sep.

Artículo en Inglés | MEDLINE | ID: mdl-32690931

5.

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study.

Dominguez-Valentin, Mev; Plazzer, John-Paul; Sampson, Julian R; Engel, Christoph; Aretz, Stefan; Jenkins, Mark A; Sunde, Lone; Bernstein, Inge; Capella, Gabriel; Balaguer, Francesc; Macrae, Finlay; Winship, Ingrid M; Thomas, Huw; Evans, Dafydd Gareth; Burn, John; Greenblatt, Marc; de Vos Tot Nederveen Cappel, Wouter H; Sijmons, Rolf H; Nielsen, Maartje; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Lindblom, Annika; Valle, Adriana Della; Lopez-Kostner, Francisco; Alvarez, Karin; Gluck, Nathan; Katz, Lior; Heinimann, Karl; Vaccaro, Carlos A; Nakken, Sigve; Hovig, Eivind; Green, Kate; Lalloo, Fiona; Hill, James; Vasen, Hans F A; Perne, Claudia; Büttner, Reinhard; Görgens, Heike; Holinski-Feder, Elke; Morak, Monika; Holzapfel, Stefanie; Hüneburg, Robert; von Knebel Doeberitz, Magnus; Loeffler, Markus; Rahner, Nils; Weitz, Jürgen; Steinke-Lange, Verena; Schmiegel, Wolff.

J Clin Med ; 10(13)2021 Jun 28.

Artículo en Inglés | MEDLINE | ID: mdl-34203177

6.

Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.

Seppälä, Toni T; Dominguez-Valentin, Mev; Crosbie, Emma J; Engel, Christoph; Aretz, Stefan; Macrae, Finlay; Winship, Ingrid; Capella, Gabriel; Thomas, Huw; Hovig, Eivind; Nielsen, Maartje; Sijmons, Rolf H; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria G; Cavestro, Giulia M; Mints, Miriam; Gluck, Nathan; Katz, Lior; Heinimann, Karl; Vaccaro, Carlos A; Green, Kate; Lalloo, Fiona; Hill, James; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Strauß, Hans-Georg; Tecklenburg, Johanna; Holinski-Feder, Elke; Steinke-Lange, Verena; Mecklin, Jukka-Pekka; Plazzer, John-Paul; Pineda, Marta; Navarro, Matilde; Vida, Joan B; Kariv, Revital; Rosner, Guy; Piñero, Tamara A; Pavicic, Walter; Kalfayan, Pablo; Ten Broeke, Sanne W; Jenkins, Mark A; Sunde, Lone; Bernstein, Inge; Burn, John; Greenblatt, Marc; de Vos Tot Nederveen Cappel, Wouter H; Della Valle, Adriana; Lopez-Koestner, Francisco.

Eur J Cancer ; 148: 124-133, 2021 05.

Artículo en Inglés | MEDLINE | ID: mdl-33743481

7.

Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database.

Dominguez-Valentin, Mev; Seppälä, Toni T; Engel, Christoph; Aretz, Stefan; Macrae, Finlay; Winship, Ingrid; Capella, Gabriel; Thomas, Huw; Hovig, Eivind; Nielsen, Maartje; Sijmons, Rolf H; Bertario, Lucio; Bonanni, Bernardo; Tibiletti, Maria Grazia; Cavestro, Giulia Martina; Mints, Miriam; Gluck, Nathan; Katz, Lior; Heinimann, Karl; Vaccaro, Carlos A; Green, Kate; Lalloo, Fiona; Hill, James; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Strauß, Hans-Georg; Tecklenburg, Johanna; Holinski-Feder, Elke; Steinke-Lange, Verena; Mecklin, Jukka-Pekka; Plazzer, John-Paul; Pineda, Marta; Navarro, Matilde; Vidal, Joan Brunet; Kariv, Revital; Rosner, Guy; Piñero, Tamara Alejandra; Gonzalez, María Laura; Kalfayan, Pablo; Sampson, Julian R; Ryan, Neil A J; Evans, D Gareth; Møller, Pål; Crosbie, Emma J.

J Clin Med ; 9(7)2020 Jul 18.

Artículo en Inglés | MEDLINE | ID: mdl-32708519

8.

Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report.

Dominguez-Valentin, Mev; Seppälä, Toni T; Sampson, Julian R; Macrae, Finlay; Winship, Ingrid; Evans, D Gareth; Scott, Rodney J; Burn, John; Möslein, Gabriela; Bernstein, Inge; Pylvänäinen, Kirsi; Renkonen-Sinisalo, Laura; Lepistö, Anna; Lindblom, Annika; Plazzer, John-Paul; Tjandra, Douglas; Thomas, Huw; Green, Kate; Lalloo, Fiona; Crosbie, Emma J; Hill, James; Capella, Gabriel; Pineda, Marta; Navarro, Matilde; Vidal, Joan Brunet; Rønlund, Karina; Nielsen, Randi Thyregaard; Yilmaz, Mette; Elvang, Louise Laurberg; Katz, Lior; Nielsen, Maartje; Ten Broeke, Sanne W; Nakken, Sigve; Hovig, Eivind; Sunde, Lone; Kloor, Matthias; Knebel Doeberitz, Magnus V; Ahadova, Aysel; Lindor, Noralane; Steinke-Lange, Verena; Holinski-Feder, Elke; Mecklin, Jukka-Pekka; Møller, Pål.

Hered Cancer Clin Pract ; 17: 28, 2019.

Artículo en Inglés | MEDLINE | ID: mdl-31636762

9.

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report.

Seppälä, Toni T; Ahadova, Aysel; Dominguez-Valentin, Mev; Macrae, Finlay; Evans, D Gareth; Therkildsen, Christina; Sampson, Julian; Scott, Rodney; Burn, John; Möslein, Gabriela; Bernstein, Inge; Holinski-Feder, Elke; Pylvänäinen, Kirsi; Renkonen-Sinisalo, Laura; Lepistö, Anna; Lautrup, Charlotte Kvist; Lindblom, Annika; Plazzer, John-Paul; Winship, Ingrid; Tjandra, Douglas; Katz, Lior H; Aretz, Stefan; Hüneburg, Robert; Holzapfel, Stefanie; Heinimann, Karl; Valle, Adriana Della; Neffa, Florencia; Gluck, Nathan; de Vos Tot Nederveen Cappel, Wouter H; Vasen, Hans; Morak, Monika; Steinke-Lange, Verena; Engel, Christoph; Rahner, Nils; Schmiegel, Wolff; Vangala, Deepak; Thomas, Huw; Green, Kate; Lalloo, Fiona; Crosbie, Emma J; Hill, James; Capella, Gabriel; Pineda, Marta; Navarro, Matilde; Blanco, Ignacio; Ten Broeke, Sanne; Nielsen, Maartje; Ljungmann, Ken; Nakken, Sigve; Lindor, Noralane.

Hered Cancer Clin Pract ; 17: 8, 2019.

Artículo en Inglés | MEDLINE | ID: mdl-30858900

10.

Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database.

Møller, Pål; Seppälä, Toni T; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paulo; Gareth Evans, D; Lindblom, Annika; Macrae, Finlay; Blanco, Ignacio; Sijmons, Rolf H; Jeffries, Jacqueline; Vasen, Hans F A; Burn, John; Nakken, Sigve; Hovig, Eivind; Rødland, Einar Andreas; Tharmaratnam, Kukatharmini; de Vos Tot Nederveen Cappel, Wouter H; Hill, James; Wijnen, Juul T; Jenkins, Mark A; Green, Kate; Lalloo, Fiona; Sunde, Lone; Mints, Miriam; Bertario, Lucio; Pineda, Marta; Navarro, Matilde; Morak, Monika; Renkonen-Sinisalo, Laura; Valentin, Mev Dominguez; Frayling, Ian M; Plazzer, John-Paul; Pylvanainen, Kirsi; Genuardi, Maurizio; Mecklin, Jukka-Pekka; Moeslein, Gabriela; Sampson, Julian R; Capella, Gabriel.

Gut ; 67(7): 1306-1316, 2018 07.

Artículo en Inglés | MEDLINE | ID: mdl-28754778

11.

Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database.

Møller, Pål; Seppälä, Toni; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paola; Evans, D Gareth; Lindblom, Annika; Macrae, Finlay; Blanco, Ignacio; Sijmons, Rolf; Jeffries, Jacqueline; Vasen, Hans; Burn, John; Nakken, Sigve; Hovig, Eivind; Rødland, Einar Andreas; Tharmaratnam, Kukatharmini; de Vos Tot Nederveen Cappel, Wouter H; Hill, James; Wijnen, Juul; Jenkins, Mark; Green, Kate; Lalloo, Fiona; Sunde, Lone; Mints, Miriam; Bertario, Lucio; Pineda, Marta; Navarro, Matilde; Morak, Monika; Renkonen-Sinisalo, Laura; Frayling, Ian M; Plazzer, John-Paul; Pylvanainen, Kirsi; Genuardi, Maurizio; Mecklin, Jukka-Pekka; Möslein, Gabriela; Sampson, Julian R; Capella, Gabriel.

Gut ; 66(9): 1657-1664, 2017 09.

Artículo en Inglés | MEDLINE | ID: mdl-27261338

12.

Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database.

Møller, Pål; Seppälä, Toni; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paola; Evans, D Gareth; Lindblom, Annika; Macrae, Finlay; Blanco, Ignacio; Sijmons, Rolf; Jeffries, Jacqueline; Vasen, Hans; Burn, John; Nakken, Sigve; Hovig, Eivind; Rødland, Einar Andreas; Tharmaratnam, Kukatharmini; de Vos Tot Nederveen Cappel, Wouter H; Hill, James; Wijnen, Juul; Green, Kate; Lalloo, Fiona; Sunde, Lone; Mints, Miriam; Bertario, Lucio; Pineda, Marta; Navarro, Matilde; Morak, Monika; Renkonen-Sinisalo, Laura; Frayling, Ian M; Plazzer, John-Paul; Pylvanainen, Kirsi; Sampson, Julian R; Capella, Gabriel; Mecklin, Jukka-Pekka; Möslein, Gabriela.

Gut ; 66(3): 464-472, 2017 03.

Artículo en Inglés | MEDLINE | ID: mdl-26657901

13.

Colorectal cancer incidence in path_MLH1 carriers subjected to different follow-up protocols: a Prospective Lynch Syndrome Database report.

Seppälä, Toni; Pylvänäinen, Kirsi; Evans, Dafydd Gareth; Järvinen, Heikki; Renkonen-Sinisalo, Laura; Bernstein, Inge; Holinski-Feder, Elke; Sala, Paola; Lindblom, Annika; Macrae, Finlay; Blanco, Ignacio; Sijmons, Rolf; Jeffries, Jacqueline; Vasen, Hans; Burn, John; Nakken, Sigve; Hovig, Eivind; Rødland, Einar Andreas; Tharmaratnam, Kukatharmini; de Vos Tot Nederveen Cappel, Wouter H; Hill, James; Wijnen, Juul; Jenkins, Mark; Genuardi, Maurizio; Green, Kate; Lalloo, Fiona; Sunde, Lone; Mints, Miriam; Bertario, Lucio; Pineda, Marta; Navarro, Matilde; Morak, Monika; Frayling, Ian M; Plazzer, John-Paul; Sampson, Julian R; Capella, Gabriel; Möslein, Gabriela; Mecklin, Jukka-Pekka; Møller, Pål.

Hered Cancer Clin Pract ; 15: 18, 2017.

Artículo en Inglés | MEDLINE | ID: mdl-29046738

14.

Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.

van der Velde, K Joeri; Kuiper, Joël; Thompson, Bryony A; Plazzer, John-Paul; van Valkenhoef, Gert; de Haan, Mark; Jongbloed, Jan D H; Wijmenga, Cisca; de Koning, Tom J; Abbott, Kristin M; Sinke, Richard; Spurdle, Amanda B; Macrae, Finlay; Genuardi, Maurizio; Sijmons, Rolf H; Swertz, Morris A.

Hum Mutat ; 36(7): 712-9, 2015 Jul.

Artículo en Inglés | MEDLINE | ID: mdl-25871441

15.

An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review.

Daniell, Julian; Plazzer, John-Paul; Perera, Anuradha; Macrae, Finlay.

Fam Cancer ; 17(3): 421-427, 2018 07.

Artículo en Inglés | MEDLINE | ID: mdl-28900777

16.

Harmonizing the interpretation of genetic variants across the world: the Malaysian experience.

Hassan, Nik Norliza Nik; Plazzer, John-Paul; Smith, Timothy D; Halim-Fikri, Hashim; Macrae, Finlay; Zubaidi, A A L; Zilfalil, Bin Alwi.

BMC Res Notes ; 9: 125, 2016 Feb 26.

Artículo en Inglés | MEDLINE | ID: mdl-26915360

17.

DNA variant databases: current state and future directions.

Plazzer, John-Paul; Macrae, Finlay.

Methods Mol Biol ; 1168: 263-73, 2014.

Artículo en Inglés | MEDLINE | ID: mdl-24870141

18.

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.

Thompson, Bryony A; Spurdle, Amanda B; Plazzer, John-Paul; Greenblatt, Marc S; Akagi, Kiwamu; Al-Mulla, Fahd; Bapat, Bharati; Bernstein, Inge; Capellá, Gabriel; den Dunnen, Johan T; du Sart, Desiree; Fabre, Aurelie; Farrell, Michael P; Farrington, Susan M; Frayling, Ian M; Frebourg, Thierry; Goldgar, David E; Heinen, Christopher D; Holinski-Feder, Elke; Kohonen-Corish, Maija; Robinson, Kristina Lagerstedt; Leung, Suet Yi; Martins, Alexandra; Moller, Pal; Morak, Monika; Nystrom, Minna; Peltomaki, Paivi; Pineda, Marta; Qi, Ming; Ramesar, Rajkumar; Rasmussen, Lene Juel; Royer-Pokora, Brigitte; Scott, Rodney J; Sijmons, Rolf; Tavtigian, Sean V; Tops, Carli M; Weber, Thomas; Wijnen, Juul; Woods, Michael O; Macrae, Finlay; Genuardi, Maurizio.

Nat Genet ; 46(2): 107-115, 2014 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-24362816

19.

Annotating the biomedical literature for the human variome.

Verspoor, Karin; Jimeno Yepes, Antonio; Cavedon, Lawrence; McIntosh, Tara; Herten-Crabb, Asha; Thomas, Zoë; Plazzer, John-Paul.

Database (Oxford) ; 2013: bat019, 2013.

Artículo en Inglés | MEDLINE | ID: mdl-23584833

20.

Reporting of Genetic Variants by Diagnostic Laboratories and other Centres.

Plazzer, John-Paul; den Dunnen, Johan T; Smith, Timothy; Macrae, Finlay; Cotton, Richard G.

Clin Biochem Rev ; 33(1): 21-4, 2012 Feb.

Artículo en Inglés | MEDLINE | ID: mdl-22363095

BVS CLAP/SMR-OPS/OMS

Centro Latinoamericano de Perinatología, Salud de la Mujer y Reproductiva

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