Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 115 Records) |
Query Trace: Syndrome and KRAS[original query] |
---|
Clinical and genomic characterisation of mismatch repair deficient pancreatic adenocarcinoma. Gut 2020 9 70 (10): 1894-1903. Grant Robert C, Denroche Robert, Jang Gun Ho, Nowak Klaudia M, Zhang Amy, Borgida Ayelet, Holter Spring, Topham James T, Wilson Julie, Dodd Anna, Jang Raymond, Prince Rebecca, Karasinska Joanna M, Schaeffer David F, Wang Yifan, Zogopoulos George, Berry Scott, Simeone Diane, Renouf Daniel J, Notta Faiyaz, O'Kane Grainne, Knox Jennifer, Fischer Sandra, Gallinger Stev |
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 |
STK11 p.F354L Germline Mutation in a Case of Multiple Gastrointestinal Tumors. Case reports in gastroenterology 2020 11 14 (3): 547-553. Kojima Yohei, Ohtsuka Kouki, Ishii Shun, Aso Nobuyoshi, Ohki Atsuko, Hashimoto Yoshikazu, Takeuchi Hirohisa, Ohnishi Hiroaki, Abe Nobutsu |
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 |
Panel gene profiling of small bowel adenocarcinoma: Results from the NADEGE prospective cohort. International journal of cancer 2020 Nov . Aparicio Thomas, Svrcek Magali, Henriques Julie, Afchain Pauline, Lièvre Astrid, Tougeron David, Gagniere Johan, Terrebonne Eric, Piessen Guillaume, Legoux Jean-Louis, Lecaille Cédric, Pocard Marc, Gornet Jean-Marc, Zaanan Aziz, Lavau-Denes Sandrine, Lecomte Thierry, Deutsch David, Vernerey Dewi, Puig Pierre Laure |
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 |
The Prognostic Ability of RAS Pathway-Related Gene Mutations in Patients with Myeloid Neoplasms Treated with Hypomethylating Agents. Acta haematologica 2021 Jul 1-11. Park Hee Sue, Son Bo Ra, Shin Kyeong Seob, Byeon Seonggyu, Kim Hee Kyung, Yang Yaewon, Jeong Yusook, Han Hye Sook, Lee Ki Hyeong, Kwon Jihy |
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 |
Peripheral Blood miRome Identified miR-155 as Potential Biomarker of MetS and Cardiometabolic Risk in Obese Patients. International journal of molecular sciences 2021 2 22 (3): . Cerda Alvaro, Amaral Adonai Aralim, de Oliveira Raquel, Moraes Tamiris Invencioni, Braga Aécio Assunção, Graciano-Saldarriaga Magda Elizabeth, Fajardo Cristina Moreno, Hirata Thiago Dominguez Crespo, Bonezi Vivian, Campos-Salazar Antony Brayan, Dorea Egidio Lima, Bernik Marcia Martins Silveira, Hirata Mario Hiroyuki, Hirata Rosario Dominguez Cres |
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 |
Bioinformatics analysis of high frequency mutations in myelodysplastic syndrome-related patients. Annals of translational medicine 2021 11 9 (19): 1491. Wu Kun, Nie Bo, Li Liyin, Yang Xin, Yang Jinrong, He Zhenxin, Li Yanhong, Cheng Shenju, Shi Mingxia, Zeng Y |
Primary central nervous system sarcoma with DICER1 mutation-treatment results of a novel molecular entity in pediatric Peruvian patients. Cancer 2021 Oct . Diaz Coronado Rosdali Y, Mynarek Martin, Koelsche Christian, Mora Alferez Pamela, Casavilca Zambrano Sandro, Wachtel Aptowitzer Antonio, Sahm Felix, von Deimling Andreas, Schüller Ulrich, Spohn Michael, Sturm Dominik, Pfister Stefan M, Morales La Madrid Andres, Sernaque Quintana Raymundo, Sarria Bardales Gustavo, Negreiros Chinchihuara Tatiana, Ojeda Medina Luis, Garcia-Corrochano Medina Pamela, Campos Sanchez Danny A, Ponce Farfan Jimena, Rutkowski Stefan, Garcia Leon Juan |
HELQ and EGR3 expression correlate with IGHV mutation status and prognosis in chronic lymphocytic leukemia. Journal of translational medicine 2021 1 19 (1): 42. Guo Chao, Gao Ya-Yue, Ju Qian-Qian, Zhang Chun-Xia, Gong Ming, Li Zhen-Li |
Clinical and genetic analyses of patients with lateralized overgrowth. BMC medical genomics 2022 9 15 (1): 206. Kim Yoon-Myung, Lee Yena, Choi Yunha, Choi In Hee, Heo Sun Hee, Choi Jung Min, Do Hyo-Sang, Jang Ja-Hyun, Yum Mi-Sun, Yoo Han-Wook, Lee Beom H |
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 |
A Novel Prognostic Scoring Model for Myelodysplastic Syndrome Patients With SF3B1 Mutation. Frontiers in oncology 2022 7 12 905490. Ma Liya, Liang Bin, Hu Huixian, Yang Wenli, Lin Shengyun, Cao Lihong, Li Kongfei, Kuang Yuemin, Shou Lihong, Jin Weimei, Lan Jianping, Ye Xingnong, Le Jing, Lei Huyi, Fu Jiaping, Lin Ying, Jiang Wenhua, Zheng Zhiying, Jiang Songfu, Fu Lijuan, Su Chuanyong, Yin XiuFeng, Liu Lixia, Qin Jiayue, Jin Jie, Qian Shenxian, Ouyang Guifang, Tong Hongy |
Is Biannual Surveillance for Pancreatic Cancer Sufficient in Individuals With Genetic Syndromes or Familial Pancreatic Cancer? Journal of the National Comprehensive Cancer Network : JNCCN 2022 6 20 (6): 663-673.e12. Wang Yifan, Cuggia Adeline, Chen Yen-I, Parent Josée, Stanek Agatha, Denroche Robert E, Zhang Amy, Grant Robert C, Domecq Céline, Golesworthy Bryn, Shwaartz Chaya, Borgida Ayelet, Holter Spring, Wilson Julie M, Chong George, O'Kane Grainne M, Knox Jennifer J, Fischer Sandra E, Gallinger Steven, Gao Zu-Hua, Foulkes William D, Waschke Kevin A, Zogopoulos Geor |
Impact of microsatellite status in early-onset colonic cancer. The British journal of surgery 2022 Jun 109 (7): 632-636. Authors are not available |
Lynch syndrome pre-screening and comprehensive characterization in a multi-center large cohort of Chinese patients with colorectal cancer. Cancer biology & medicine 2022 5 19 (8): 1235-48. Li Yan, Fan Lihong, Zheng Jianming, Nie Xiu, Sun Yu, Feng Qin, Lian Shenyi, Bai Wenqi, Cai Weijing, Yang Yanan, Su Bo, Xi Yanfeng, Lin Dongm |
In-Silico and In-Vitro Analysis of Human SOS1 Protein Causing Noonan Syndrome - A Novel Approach to Explore the Molecular Pathways. Current genomics 2022 4 22 (7): 526-540. Sigamani Vinoth, Rajasingh Sheeja, Gurusamy Narasimman, Panda Arunima, Rajasingh Johns |
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome. American journal of human genetics 2022 4 109 (5): 953-960. Palles Claire, West Hannah D, Chew Edward, Galavotti Sara, Flensburg Christoffer, Grolleman Judith E, Jansen Erik A M, Curley Helen, Chegwidden Laura, Arbe-Barnes Edward H, Lander Nicola, Truscott Rebekah, Pagan Judith, Bajel Ashish, Sherwood Kitty, Martin Lynn, Thomas Huw, Georgiou Demetra, Fostira Florentia, Goldberg Yael, Adams David J, van der Biezen Simone A M, Christie Michael, Clendenning Mark, Thomas Laura E, Deltas Constantinos, Dimovski Aleksandar J, Dymerska Dagmara, Lubinski Jan, Mahmood Khalid, van der Post Rachel S, Sanders Mathijs, Weitz Jürgen, Taylor Jenny C, Turnbull Clare, Vreede Lilian, van Wezel Tom, Whalley Celina, Arnedo-Pac Claudia, Caravagna Giulio, Cross William, Chubb Daniel, Frangou Anna, Gruber Andreas J, Kinnersley Ben, Noyvert Boris, Church David, Graham Trevor, Houlston Richard, Lopez-Bigas Nuria, Sottoriva Andrea, Wedge David, , , , Jenkins Mark A, Kuiper Roland P, Roberts Andrew W, Cheadle Jeremy P, Ligtenberg Marjolijn J L, Hoogerbrugge Nicoline, Koelzer Viktor H, Rivas Andres Dacal, Winship Ingrid M, Ponte Clara Ruiz, Buchanan Daniel D, Power Derek G, Green Andrew, Tomlinson Ian P M, Sampson Julian R, Majewski Ian J, de Voer Richarda |
New insights on Noonan syndrome's clinical phenotype: a single center retrospective study. BMC pediatrics 2022 12 22 (1): 734. Baldo Francesco, Fachin Alice, Da Re Beatrice, Rubinato Elisa, Bobbo Marco, Barbi Egid |
The new diagnostic criteria for myelodysplasia-related acute myeloid leukemia is useful for predicting clinical outcome: comparison of the 4th and 5th World Health Organization classifications. Annals of hematology 2022 10 101 (12): 2645-2654. Park Hee Sue, Kim Hee Kyung, Kim Hong-Sik, Yang Yaewon, Han Hye Sook, Lee Ki Hyeong, Son Bo Ra, Kwon Jihy |
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 |
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 |
Polyps and colorectal cancer in serrated polyposis syndrome: contribution of the classical adenoma-carcinoma and serrated neoplasia pathways. Clinical and translational gastroenterology 2023 6 . David E F W M van Toledo, Joep E G IJspeert, Hannah Boersma, Alex R Musler, Arne G C Bleijenberg, Evelien Dekker, Carel J M van Noes |
USH2A mutation and specific driver mutation subtypes are associated with clinical efficacy of immune checkpoint inhibitors in lung cancer. Journal of Zhejiang University. Science. B 2023 2 24 (2): 143-156. Yang Dexin, Feng Yuqin, Lu Haohua, Chen Kelie, Xu Jinming, Li Peiwei, Wang Tianru, Xia Dajing, Wu Yih |
Functional pri-miR-34b/c rs4938723 and KRAS 3'UTR rs61764370 SNPs: novel phenotype modifiers in Li-Fraumeni syndrome? Gene 2023 12 148069. Igor Araujo Vieira, Eduarda Heidrich Pezzi, Isabel Cristina Bandeira, Larissa Brussa Reis, Yasminne Marinho de Araújo Rocha, Bruna Vieira Fernandes, Marina Siebert, Kendi Nishino Miyamoto, Monique Banik Siqueira, Maria Isabel Achatz, Henrique de Campos Reis Galvão, Felipe Antonio O Garcia, Natalia Campacci, Dirce Maria Carraro, Maria Nirvana Formiga, Fernanda Sales Luiz Vianna, Edenir Inez Palmero, Gabriel S Macedo, Patricia Ashton-Prol |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 16, 2024
- Content source: