日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Developing a Clinician-Friendly Online Dynamic Nomogram for Survival Prediction in Colon Cancer Patients

开发一种便于临床医生使用的在线动态列线图,用于预测结肠癌患者的生存期

Asghari-Jafarabadi, Mohammad; Wilkins, Simon; Plazzer, John Paul; Yap, Raymond; McMurrick, Paul J

Population frequency of Predicted pathogenic MisMatch Repair (MMR) gene variants in Lynch syndrome from bioinformatic analyses of the general population

基于对一般人群的生物信息学分析,预测的林奇综合征致病性错配修复(MMR)基因变异的群体频率

Guan, Yiwen; Huang, Mary; Macrae, Finlay; Yin, Xiaoyu; Plazzer, John-Paul; Savige, Judy

Gene-specific ACMG/AMP classification criteria for germline APC variants: Recommendations from the ClinGen InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel

针对生殖系APC变异的基因特异性ACMG/AMP分类标准:ClinGen InSiGHT遗传性结直肠癌/息肉病变异注释专家组的建议

Spier, Isabel; Yin, Xiaoyu; Richardson, Marcy; Pineda, Marta; Laner, Andreas; Ritter, Deborah; Boyle, Julie; Mur, Pilar; Hansen, Thomas V O; Shi, Xuemei; Mahmood, Khalid; Plazzer, John-Paul; Ognedal, Elisabet; Nordling, Margareta; Farrington, Susan M; Yamamoto, Gou; Baert-Desurmont, Stéphanie; Martins, Alexandra; Borras, Ester; Tops, Carli; Webb, Erica; Beshay, Victoria; Genuardi, Maurizio; Pesaran, Tina; Capellá, Gabriel; Tavtigian, Sean V; Latchford, Andrew; Frayling, Ian M; Plon, Sharon E; Greenblatt, Marc; Macrae, Finlay A; Aretz, Stefan

Estimating cancer risk in carriers of Lynch syndrome variants in UK Biobank

利用英国生物银行评估林奇综合征变异携带者的癌症风险

Fummey, Eilidh; Navarro, Pau; Plazzer, John-Paul; Frayling, Ian M; Knott, Sara; Tenesa, Albert

Phenotype Correlations With Pathogenic DNA Variants in the MUTYH Gene: A Review of Over 2000 Cases

MUTYH基因致病性DNA变异与表型的相关性:2000多例病例回顾

Thet, Monica; Plazzer, John-Paul; Capella, Gabriel; Latchford, Andrew; Nadeau, Emily A W; Greenblatt, Marc S; Macrae, Finlay

Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database

携带致病性错配修复基因变异并接受早期癌症诊断和治疗监测的患者的年龄、基因和性别死亡率:来自前瞻性林奇综合征数据库的报告

Dominguez-Valentin, Mev; Haupt, Saskia; Seppälä, Toni T; Sampson, Julian R; Sunde, Lone; Bernstein, Inge; Jenkins, Mark A; Engel, Christoph; Aretz, Stefan; Nielsen, Maartje; Capella, Gabriel; Balaguer, Francesc; Evans, Dafydd Gareth; Burn, John; Holinski-Feder, Elke; Bertario, Lucio; Bonanni, Bernardo; Lindblom, Annika; Levi, Zohar; Macrae, Finlay; Winship, Ingrid; Plazzer, John-Paul; Sijmons, Rolf; Laghi, Luigi; Della Valle, Adriana; Heinimann, Karl; Dębniak, Tadeusz; Fruscio, Robert; Lopez-Koestner, Francisco; Alvarez-Valenzuela, Karin; Katz, Lior H; Laish, Ido; Vainer, Elez; Vaccaro, Carlos; Carraro, Dirce Maria; Monahan, Kevin; Half, Elizabeth; Stakelum, Aine; Winter, Des; Kennelly, Rory; Gluck, Nathan; Sheth, Harsh; Abu-Freha, Naim; Greenblatt, Marc; Rossi, Benedito Mauro; Bohorquez, Mabel; Cavestro, Giulia Martina; Lino-Silva, Leonardo S; Horisberger, Karoline; Tibiletti, Maria Grazia; Nascimento, Ivana do; Thomas, Huw; Rossi, Norma Teresa; Apolinário da Silva, Leandro; Zaránd, Attila; Ruiz-Bañobre, Juan; Heuveline, Vincent; Mecklin, Jukka-Pekka; Pylvänäinen, Kirsi; Renkonen-Sinisalo, Laura; Lepistö, Anna; Peltomäki, Päivi; Therkildsen, Christina; Madsen, Mia Gebauer; Burgdorf, Stefan Kobbelgaard; Hopper, John L; Win, Aung Ko; Haile, Robert W; Lindor, Noralane; Gallinger, Steven; Le Marchand, Loïc; Newcomb, Polly A; Figueiredo, Jane; Buchanan, Daniel D; Thibodeau, Stephen N; von Knebel Doeberitz, Magnus; Loeffler, Markus; Rahner, Nils; Schröck, Evelin; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Hüneburg, Robert; Redler, Silke; Büttner, Reinhard; Weitz, Jürgen; Pineda, Marta; Duenas, Nuria; Vidal, Joan Brunet; Moreira, Leticia; Sánchez, Ariadna; Hovig, Eivind; Nakken, Sigve; Green, Kate; Lalloo, Fiona; Hill, James; Crosbie, Emma; Mints, Miriam; Goldberg, Yael; Tjandra, Douglas; Ten Broeke, Sanne W; Kariv, Revital; Rosner, Guy; Advani, Suresh H; Thomas, Lidiya; Shah, Pankaj; Shah, Mithun; Neffa, Florencia; Esperon, Patricia; Pavicic, Walter; Torrezan, Giovana Tardin; Bassaneze, Thiago; Martin, Claudia Alejandra; Moslein, Gabriela; Moller, Pål

Genotype-phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome

BMPR1a致病变异与幼年性息肉综合征的基因型-表型相关性

Papadopulos, M E; Plazzer, J P; Macrae, F A

SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome

SMAD4 变异及其与幼年性息肉综合征的基因型-表型相关性

Cao, Kimberley; Plazzer, John-Paul; Macrae, Finlay

Colorectal cancer incidences in Lynch syndrome: a comparison of results from the prospective lynch syndrome database and the international mismatch repair consortium

林奇综合征患者结直肠癌发病率:前瞻性林奇综合征数据库与国际错配修复联盟结果的比较

Møller, Pål; Seppälä, Toni; Dowty, James G; Haupt, Saskia; Dominguez-Valentin, Mev; Sunde, Lone; Bernstein, Inge; Engel, Christoph; Aretz, Stefan; Nielsen, Maartje; Capella, Gabriel; Evans, Dafydd Gareth; Burn, John; Holinski-Feder, Elke; Bertario, Lucio; Bonanni, Bernardo; Lindblom, Annika; Levi, Zohar; Macrae, Finlay; Winship, Ingrid; Plazzer, John-Paul; Sijmons, Rolf; Laghi, Luigi; Valle, Adriana Della; Heinimann, Karl; Half, Elizabeth; Lopez-Koestner, Francisco; Alvarez-Valenzuela, Karin; Scott, Rodney J; Katz, Lior; Laish, Ido; Vainer, Elez; Vaccaro, Carlos Alberto; Carraro, Dirce Maria; Gluck, Nathan; Abu-Freha, Naim; Stakelum, Aine; Kennelly, Rory; Winter, Des; Rossi, Benedito Mauro; Greenblatt, Marc; Bohorquez, Mabel; Sheth, Harsh; Tibiletti, Maria Grazia; Lino-Silva, Leonardo S; Horisberger, Karoline; Portenkirchner, Carmen; Nascimento, Ivana; Rossi, Norma Teresa; da Silva, Leandro Apolinário; Thomas, Huw; Zaránd, Attila; Mecklin, Jukka-Pekka; Pylvänäinen, Kirsi; Renkonen-Sinisalo, Laura; Lepisto, Anna; Peltomäki, Päivi; Therkildsen, Christina; Lindberg, Lars Joachim; Thorlacius-Ussing, Ole; von Knebel Doeberitz, Magnus; Loeffler, Markus; Rahner, Nils; Steinke-Lange, Verena; Schmiegel, Wolff; Vangala, Deepak; Perne, Claudia; Hüneburg, Robert; de Vargas, Aída Falcón; Latchford, Andrew; Gerdes, Anne-Marie; Backman, Ann-Sofie; Guillén-Ponce, Carmen; Snyder, Carrie; Lautrup, Charlotte K; Amor, David; Palmero, Edenir; Stoffel, Elena; Duijkers, Floor; Hall, Michael J; Hampel, Heather; Williams, Heinric; Okkels, Henrik; Lubiński, Jan; Reece, Jeanette; Ngeow, Joanne; Guillem, Jose G; Arnold, Julie; Wadt, Karin; Monahan, Kevin; Senter, Leigha; Rasmussen, Lene J; van Hest, Liselotte P; Ricciardiello, Luigi; Kohonen-Corish, Maija R J; Ligtenberg, Marjolijn J L; Southey, Melissa; Aronson, Melyssa; Zahary, Mohd N; Samadder, N Jewel; Poplawski, Nicola; Hoogerbrugge, Nicoline; Morrison, Patrick J; James, Paul; Lee, Grant; Chen-Shtoyerman, Rakefet; Ankathil, Ravindran; Pai, Rish; Ward, Robyn; Parry, Susan; Dębniak, Tadeusz; John, Thomas; van Overeem Hansen, Thomas; Caldés, Trinidad; Yamaguchi, Tatsuro; Barca-Tierno, Verónica; Garre, Pilar; Cavestro, Giulia Martina; Weitz, Jürgen; Redler, Silke; Büttner, Reinhard; Heuveline, Vincent; Hopper, John L; Win, Aung Ko; Lindor, Noralane; Gallinger, Steven; Le Marchand, Loïc; Newcomb, Polly A; Figueiredo, Jane; Buchanan, Daniel D; Thibodeau, Stephen N; Ten Broeke, Sanne W; Hovig, Eivind; Nakken, Sigve; Pineda, Marta; Dueñas, Nuria; Brunet, Joan; Green, Kate; Lalloo, Fiona; Newton, Katie; Crosbie, Emma J; Mints, Miriam; Tjandra, Douglas; Neffa, Florencia; Esperon, Patricia; Kariv, Revital; Rosner, Guy; Pavicic, Walter Hernán; Kalfayan, Pablo; Torrezan, Giovana Tardin; Bassaneze, Thiago; Martin, Claudia; Moslein, Gabriela; Ahadova, Aysel; Kloor, Matthias; Sampson, Julian R; Jenkins, Mark A

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

致病性错配修复变异携带者子宫切除术和双侧输卵管卵巢切除术的接受情况:一项前瞻性林奇综合征数据库报告

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; Alvarez, Karin; Büttner, Reinhard; Görgens, Heike; Morak, Monika; Holzapfel, Stefanie; Hüneburg, Robert; von Knebel Doeberitz, Magnus; Loeffler, Markus; Redler, Silke; Weitz, Jürgen; Pylvänäinen, Kirsi; Renkonen-Sinisalo, Laura; Lepistö, Anna; Hopper, John L; Win, Aung K; Lindor, Noralane M; Gallinger, Steven; Le Marchand, Loïc; Newcomb, Polly A; Figueiredo, Jane C; Thibodeau, Stephen N; Therkildsen, Christina; Wadt, Karin A W; Mourits, Marian J E; Ketabi, Zohreh; Denton, Oliver G; Rødland, Einar A; Vasen, Hans; Neffa, Florencia; Esperon, Patricia; Tjandra, Douglas; Möslein, Gabriela; Rokkones, Erik; Sampson, Julian R; Evans, D G; Møller, Pål