Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 118 Records) |
Query Trace: Syndrome and BRAF[original query] |
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Exploring the real-world effect of the SARS-CoV-2 pandemic on the molecular diagnostics for cancer patients and high-risk individuals. Expert review of molecular diagnostics 2020 12 21 (1): 101-107. Cavic Milena, Krivokuca Ana, Boljevic Ivana, Spasic Jelena, Mihajlovic Milica, Pavlovic Marijana, Damjanovic Ana, Radosavljevic Davorin, Jankovic Radmi |
Germline Profiling and Molecular Characterization of Early Onset Metastatic Colorectal Cancer. Frontiers in oncology 2020 10 568911. Xu Ting, Zhang Yinjie, Zhang Jing, Qi Changsong, Liu Dan, Wang Zhenghang, Li Yanyan, Ji Congcong, Li Jian, Lin Xuan, Hou Ting, Liu Hao, Zhang Lu, Han-Zhang Han, Shen Lin, Wang Xiche |
Noonan Syndrome in Thai Children. Indian pediatrics 2020 10 57 (10): 967-968. Boonchooduang Nonglak, Louthrenoo Orawan, Tanpaiboon Prano |
A Rare Case of Serrated Polyposis Syndrome with the MSH6 and SMARCA4 variants. European journal of case reports in internal medicine 2021 8 8 (7): 002750. Nepal Mahesh, Lokineni Sravani, Naing Le Yu, Bapaye Jay, Olson Er |
Serine/Threonine Kinase 11 Plays a Canonical Role in Malignant Progression of KRAS -Mutant and GNAS -Wild-Type Intraductal Papillary Mucinous Neoplasms of the Pancreas. Annals of surgery 2021 4 277 (2): e384-e395. Omori Yuko, Ono Yusuke, Morikawa Takanori, Motoi Fuyuhiko, Higuchi Ryota, Yamamoto Masakazu, Hayakawa Yuko, Karasaki Hidenori, Mizukami Yusuke, Unno Michiaki, Furukawa To |
Clinicopathological and molecular characterization of Brazilian families at risk for Lynch syndrome. Cancer genetics 2021 3 254-255 82-91. de Paula André Escremim, Galvão Henrique de Campos Reis, Bonatelli Murilo, Sabato Cristina, Fernandes Gabriela Carvalho, Berardinelli Gustavo Noriz, Andrade Carlos Eduardo Mattos, Neto Maximiliano Cadamuro, Romagnolo Luis Gustavo Capochim, Campacci Natalia, Scapulatempo-Neto Cristovam, Reis Rui Manuel, Palmero Edenir In |
RASopathies and hemostatic abnormalities: key role of platelet dysfunction. Orphanet journal of rare diseases 2021 12 16 (1): 499. Di Candia Francesca, Marchetti Valeria, Cirillo Ferdinando, Di Minno Alessandro, Rosano Carmen, Pagano Stefano, Siano Maria Anna, Falco Mariateresa, Assunto Antonia, Boccia Giovanni, Magliacane Gerardo, Pinna Valentina, De Luca Alessandro, Tartaglia Marco, Di Minno Giovanni, Strisciuglio Pietro, Melis Danie |
Molecular Analysis of Colorectal Cancers Suggests a High Frequency of Lynch Syndrome in Indonesia. Cancers 2021 12 13 (24): . Susanti Susanti, Wibowo Satrio, Akbariani Gilang, Yoshuantari Naomi, Heriyanto Didik Setyo, Ridwanuloh Asep Muhamad, Hariyatun Hariyatun, Handaya Adeodatus Yuda, Kurnianda Johan, Hutajulu Susanna Hilda, Ilyas Mohamm |
Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndrome. American journal of medical genetics. Part A 2021 12 188 (2): 414-421. Leoni Chiara, Viscogliosi Germana, Onesimo Roberta, Bisanti Cristian, Massese Miriam, Giorgio Valentina, Corbo Fabio, Tedesco Marta, Acampora Anna, Cipolla Clelia, Dell'Atti Claudia, Flex Elisabetta, Gervasoni Jacopo, Primiano Aniello, Rigante Donato, Tartaglia Marco, Zampino Giusep |
Real-world outcome of universal screening for Lynch syndrome in Japanese patients with colorectal cancer highlights the importance of targeting patients with young-onset disease. Molecular and clinical oncology 2021 Dec 15 (6): 247. Yamada Atsushi, Matsuoka Yui, Minamiguchi Sachiko, Yamamoto Yoshihiro, Kondo Tomohiro, Sunami Tomohiko, Horimatsu Takahiro, Kawada Kenji, Seno Hiroshi, Torishima Masako, Murakami Hiromi, Yamada Takahiro, Kosugi Shinji, Sugano Kokichi, Muto Mana |
BRAF Frequently Co-occurs With IDH1/2, TP53, and ATRX Mutations in Adult Patients With Gliomas and Is Associated With Poorer Survival Than That of Patients Harboring BRAF . Frontiers in oncology 2021 1 10 531968. Da Rong, Wang Maode, Jiang Haitao, Wang Tuo, Wang W |
Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status. Orphanet journal of rare diseases 2021 1 16 (1): 43. Leoni Chiara, Romeo Domenico Marco, Pelliccioni Michele, Di Già Mariangela, Onesimo Roberta, Giorgio Valentina, Flex Elisabetta, Tedesco Marta, Tartaglia Marco, Rigante Donato, Valassina Antonio, Zampino Giusep |
Genetics and clinical phenotype of Erdheim-Chester disease: A case report of constrictive pericarditis and a systematic review of the literature. Frontiers in cardiovascular medicine 2022 9 876294. Bartoli Lorenzo, Angeli Francesco, Stefanizzi Andrea, Fabrizio Michele, Paolisso Pasquale, Bergamaschi Luca, Broccoli Alessandro, Zinzani Pier Luigi, Galiè Nazzareno, Rucci Paola, Foà Alberto, Pizzi Carmi |
Routine Immunohistochemical Analysis of Mismatch Repair Proteins in Colorectal Cancer-A Prospective Analysis. Cancers 2022 8 14 (15): . Lemos Garcia Joana, Rosa Isadora, Saraiva Sofia, Marques Inês, Fonseca Ricardo, Lage Pedro, Francisco Inês, Silva Patrícia, Filipe Bruno, Albuquerque Cristina, Claro Isab |
Evaluating utility and feasibility of mismatch repair testing of colorectal cancer patients in a low-middle-income country. Scientific reports 2022 6 12 (1): 10998. Elsayed Inas, Geraghty Robert, Mekki Salwa O, Mohamedani Ahmed A, Ahern Susan, Salim Omer E H, Khalil Balgis B M, Abdelrahim Sawsan, Suliman Suliman H, Elhassan Moawia M A, Salah Salah O, Salih Mohamed E, Widatalla Abubakr H, Abdelhamed Osman S, Wang Xiaosheng, Ryan Éanna J, Winter Des, Bakhiet Salih, Sheahan Kier |
Impact of microsatellite status in early-onset colonic cancer. The British journal of surgery 2022 Jun 109 (7): 632-636. Authors are not available |
Colorectal carcinoma occurring via the adenoma-carcinoma pathway in patients with serrated polyposis syndrome. Journal of gastroenterology 2022 2 57 (4): 286-299. Nakamura Fumika, Sato Yasushi, Okamoto Koichi, Fujino Yasuteru, Mitsui Yasuhiro, Kagemoto Kaizo, Kawaguchi Tomoyuki, Miyamoto Hiroshi, Muguruma Naoki, Sonoda Tomoko, Tsuneyama Koichi, Takayama Tetsu |
Metachronous colorectal cancer have a similar microsatellite instability frequency but a lower infiltration of lymphomononuclear cells than primary lesions. Surgery 2022 1 171 (6): 1605-1611. Angriman Imerio, Fassan Matteo, Nacci Camilla, De Simoni Ottavia, Kotsafti Andromachi, Businello Gianluca, Ruffolo Cesare, Scarpa Melania, Dei Tos Angelo Paolo, Agostini Marco, Pucciarelli Salvatore, Bardini Romeo, Scarpa Mar |
Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients. European journal of pediatrics 2022 Oct 181 (10): 3691-3700. Papadopoulos George, Papadopoulou Anna, Kosma Konstantina, Papadimitriou Anastasios, Papaevangelou Vassiliki, Kanaka-Gantenbein Christina, Bountouvi Evangelia, Kitsiou-Tzeli Soph |
Systematic ophthalmologic evaluation in cardio-facio-cutaneous syndrome: A genotype-endophenotype correlation. American journal of medical genetics. Part A 2023 9 . Emanuele Crincoli, Chiara Leoni, Germana Viscogliosi, Roberta Onesimo, Roberta Mattei, Marco Tartaglia, Fiammetta Catania, Stanislao Rizzo, Giuseppe Zampino, Annabella Saler |
Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients. Orphanet journal of rare diseases 2023 9 18 (1): 284. Biyun Feng, Xin Li, Qianwen Zhang, Yirou Wang, Shili Gu, Ru-En Yao, Zhiying Li, Shiyang Gao, Guoying Chang, Qun Li, Niu Li, Lijun Fu, Jian Wang, Xiumin Wa |
Genomic profiles of renal cell carcinoma in a small Chinese cohort. Frontiers in oncology 2023 7 13 1095775. Sheng Tai, Dan-Dan Xu, Zhixian Yu, Yu Guan, Shuiping Yin, Jun Xiao, Song Xue, Chaozhao Lia |
BRAF V600E/RAS Mutations and Lynch Syndrome in Patients With MSI-H/dMMR Metastatic Colorectal Cancer Treated With Immune Checkpoint Inhibitors. The oncologist 2023 4 . Colle Raphael, Lonardi Sara, Cachanado Marine, Overman Michael J, Elez Elena, Fakih Marwan, Corti Francesca, Jayachandran Priya, Svrcek Magali, Dardenne Antoine, Cervantes Baptiste, Duval Alex, Cohen Romain, Pietrantonio Filippo, André Thier |
Regorafenib is suitable for advanced colorectal cancer patients who have previously received trifluridine/tipiracil plus bevacizumab. Scientific reports 2023 2 13 (1): 2433. Matsumoto Toshihiko, Ikoma Tatsuki, Yamamura Shogo, Miura Kou, Tsuduki Takao, Watanabe Takanori, Nagai Hiroki, Takatani Masahiro, Yasui Hisate |
Case Report: Solid variant of papillary thyroid carcinoma in a young adult with Turner syndrome with chronic thyroiditis. Frontiers in oncology 2023 11 13 1150002. Daichi Murakami, Masayoshi Hijiya, Takuro Iyo, Sachiko Hayata, Takashi Ozaki, Keisuke Enomoto, Masamitsu Kono, Shunji Tamagawa, Muneki Hoto |
Tumor Testing and Genetic Analysis to Identify Lynch Syndrome Patients in an Italian Colorectal Cancer Cohort. Cancers 2023 10 15 (20): . Antonino Pantaleo, Giovanna Forte, Filomena Cariola, Anna Maria Valentini, Candida Fasano, Paola Sanese, Valentina Grossi, Antonia Lucia Buonadonna, Katia De Marco, Martina Lepore Signorile, Anna Filomena Guglielmi, Andrea Manghisi, Gianluigi Gigante, Raffaele Armentano, Vittoria Disciglio, Cristiano Simo |
Rates and outcomes of testing for lynch syndrome in a national colorectal cancer screening programme. Cancer epidemiology 2023 1 82 102314. Cudmore Jane, Kumar Lakshman, O'Moráin Neil, Cullen Garrett, Horgan Gareth, Aird John, Sheahan Kieran, Winter Desmond C, Kennelly Rory, Leyden J |
Testing region selection and prognostic analysis of MLH1 promoter methylation in colorectal cancer in China. Gastroenterology report 2024 4 12 goae011. Xiaoli Tan, Yongzhen Fang, Xinjuan Fan, Weihao Deng, Jinglin Huang, Yacheng Cai, Jiaxin Zou, Zhiting Chen, Hanjie Lin, Liang Xu, Guannan Wang, Huanmiao Zhan, Shuhui Huang, Xinhui |
Microsatellite Instability Is Insufficiently Used as a Biomarker for Lynch Syndrome Testing in Clinical Practice. JCO precision oncology 2024 1 8 e2300332. Eirini Papadopoulou, George Rigas, Elena Fountzilas, Anastasios Boutis, Stylianos Giassas, Nikolaos Mitsimponas, Danai Daliani, Dimitrios C Ziogas, Michalis Liontos, Vasileios Ramfidis, Charalampos Christophilakis, Dimitris Matthaios, Theofanis Floros, Chrysiida Florou-Chatzigiannidou, Konstantinos Agiannitopoulos, Angeliki Meintani, Aikaterini Tsantikidi, Anastasia Katseli, Kevisa Potska, Georgios Tsaousis, Vasiliki Metaxa-Mariatou, George Nasioul |
Intratumoral presence of the genotoxic gut bacteria pks E. coli, Enterotoxigenic Bacteroides fragilis, and Fusobacterium nucleatum and their association with clinicopathological and molecular features of colorectal cancer. British journal of cancer 2024 1 . Jihoon E Joo, Yen Lin Chu, Peter Georgeson, Romy Walker, Khalid Mahmood, Mark Clendenning, Aaron L Meyers, Julia Como, Sharelle Joseland, Susan G Preston, Natalie Diepenhorst, Julie Toner, Danielle J Ingle, Norelle L Sherry, Andrew Metz, Brigid M Lynch, Roger L Milne, Melissa C Southey, John L Hopper, Aung Ko Win, Finlay A Macrae, Ingrid M Winship, Christophe Rosty, Mark A Jenkins, Daniel D Buchan |
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- Page last updated:Apr 22, 2024
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