Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 56 Records) |
| Query Trace: Disease and TSC1[original query] |
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| Tuberous Sclerosis Complex in Chinese patients: Phenotypic analysis and mutational screening of TSC1/TSC2 genes. Seizure 2019 9 71 322-327. Lin Shan, Zeng Jia-Bin, Zhao Gui-Xian, Yang Zhen-Zhen, Huang Hui-Ping, Lin Min-Ting, Wu Zhi-Ying, Wang Ning, Chen Wan-Jin, Fang Li |
| Cerebellar lesions as potential predictors of neurobehavioural phenotype in tuberous sclerosis complex. Developmental medicine and child neurology 2019 Jul . Toldo Irene, Bugin Samuela, Perissinotto Egle, Pelizza Maria Federica, Vignoli Aglaia, Parazzini Cecilia, Canevini Maria Paola, Nosadini Margherita, Sartori Stefano, Manara Ren |
A genome-wide association study implicates NR2F2 in lymphangioleiomyomatosis pathogenesis.
The European respiratory journal 2019 Apr . Kim Wonji, Giannikou Krinio, Dreier John R, Lee Sanghun, Tyburczy Magdalena E, Silverman Edwin K, Radzikowska El?bieta, Wu Shulin, Wu Chin-Lee, Henske Elizabeth P, Hunninghake Gary, Carel Havi, Roman Antonio, Pujana Miquel Angel, Moss Joel, Won Sungho, Kwiatkowski David |
| Mutations and Response to Rapalogs in Patients with Metastatic Renal Cell Carcinoma. Molecular cancer therapeutics 2019 Oct . Nassar Amin H, Hamieh Lana, Gray Kathryn P, Thorner Aaron R, Fay Andre P, Lasseter Kathryn D, Abou Alaiwi Sarah, Nuzzo Pier Vitale, Flippot Ronan, Krajewski Katherine M, Signoretti Sabina, Choueiri Toni K, Kwiatkowski David |
| [Genetic analysis of a pedigree affected with tuberous sclerosis complex caused by a novel mutation of TSC1]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 10 36 (10): 961-964. Zhang Shide, Wang Zhanxiang, Lin Rong, Zhao Jingj |
| Mutation landscape of TSC1/TSC2 in Chinese patients with tuberous sclerosis complex. Journal of human genetics 2020 9 66 (3): 227-236. Meng Yuhuan, Yu Changshun, Chen Meijun, Yu Xiaokang, Sun Mingming, Yan Hui, Zhao Weiwei, Yu Shih |
| Muscle-invasive Urothelial Cancer: Association of Mutational Status with Metastatic Pattern and Survival. Radiology 2020 4 295 (3): 572-580. Alessandrino Francesco, Williams Kristin, Nassar Amin H, Gujrathi Rahul, Silverman Stuart G, Sonpavde Guru, Shinagare Atul |
| Does neoadjuvant targeted therapy provide an opportunity for resectable EGFR-mutant lung cancer: a real-world retrospective study. Journal of thoracic disease 2020 11 12 (10): 5324-5335. Lv Chao, Ma Yuanyuan, Feng Qin, Lu Fangliang, Chi Yongkun, Wu Nan, Fang Jian, Yang Y |
| Lymphangioleiomyomatosis Association with Underlying Genotype in Patients with Tuberous Sclerosis Complex. Annals of the American Thoracic Society 2020 Nov . Tian Xinlun, Glass Jennifer E, Kwiatkowski David J, Towbin Alexander J, Li Yinan, Sund Kristen L, Krueger Darcy A, Franz David N, McCormack Francis X, Gupta Nisha |
| Mutations of METTL3 predict response to neoadjuvant chemotherapy in muscle-invasive bladder cancer. Journal of clinical and translational research 2021 7 7 (3): 386-413. Yang Zhao, Shen Zongyi, Jin Di, Zhang Nan, Wang Yue, Lei Wanjun, Zhang Zhiming, Chen Haige, Naz Faiza, Xu Lida, Wang Lei, Wang Shihui, Su Xin, Yu Changyuan, Li Cho |
| Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA). Orphanet journal of rare diseases 2021 Jul 16 (1): 301. Sauter Matthias, Belousova Elena, Benedik Mirjana P, Carter Tom, Cottin Vincent, Curatolo Paolo, Dahlin Maria, D'Amato Lisa, d'Augères Guillaume B, de Vries Petrus J, Ferreira José C, Feucht Martha, Fladrowski Carla, Hertzberg Christoph, Jozwiak Sergiusz, Lawson John A, Macaya Alfons, Marques Ruben, Nabbout Rima, O'Callaghan Finbar, Qin Jiong, Sander Valentin, Shah Seema, Takahashi Yukitoshi, Touraine Renaud, Youroukos Sotiris, Zonnenberg Bernard, Jansen Anna, Kingswood J Chris, |
| Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study. JNCI cancer spectrum 2021 7 5 (2): . Kim Jung, Gianferante Matthew, Karyadi Danielle M, Hartley Stephen W, Frone Megan N, Luo Wen, Robison Leslie L, Armstrong Gregory T, Bhatia Smita, Dean Michael, Yeager Meredith, Zhu Bin, Song Lei, Sampson Joshua N, Yasui Yutaka, Leisenring Wendy M, Brodie Seth A, de Andrade Kelvin C, Fortes Fernanda P, Goldstein Alisa M, Khincha Payal P, Machiela Mitchell J, McMaster Mary L, Nickerson Michael L, Oba Leatrisse, Pemov Alexander, Pinheiro Maisa, Rotunno Melissa, Santiago Karina, Wegman-Ostrosky Talia, Diver W Ryan, Teras Lauren, Freedman Neal D, Hicks Belynda D, Zhu Bin, Wang Mingyi, Jones Kristine, Hutchinson Amy A, Dagnall Casey, Savage Sharon A, Tucker Margaret A, Chanock Stephen J, Morton Lindsay M, Stewart Douglas R, Mirabello Li |
| The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort. Child neurology open 2021 5 8 2329048X211012817. Alsowat Daad, Whitney Robyn, Hewson Stacy, Jain Puneet, Chan Valerie, Kabir Nadia, Amburgey Kimberly, Noone Damien, Lemaire Mathieu, McCoy Blathnaid, Zak Mar |
| The Correlation Between Tuberous Sclerosis Complex Genotype and Renal Angiomyolipoma Phenotype. Frontiers in genetics 2021 3 11 575750. Zhang Nianyi, Wang Xiaofang, Tang Zengqi, Qiu Xiaonan, Guo Zhixuan, Huang Danqi, Xiong Hui, Guo Qi |
| Phase II Clinical Trial of Everolimus in a Pan-Cancer Cohort of Patients with mTOR Pathway Alterations. Clinical cancer research : an official journal of the American Association for Cancer Research 2021 3 27 (14): 3845-3853. Adib Elio, Klonowska Katarzyna, Giannikou Krinio, Do Khanh T, Pruitt-Thompson Solida, Bhushan Ketki, Milstein Matthew I, Hedglin Jennifer, Kargus Katherine E, Sholl Lynette M, Tsuji Junko, Hyman David M, Sisk Anne, Shapiro Geoffrey I, Vargas Hebert A, Harding James J, Voss Martin H, Iyer Gopa, Kwiatkowski David |
| Everolimus in Invasive Malignant Renal Epithelioid Angiomyolipoma. Frontiers in oncology 2021 2 10 610858. Guo Gang, Gu Liangyou, Zhang |
| [Genetic testing and prenatal diagnosis for a pedigree affected with tuberous sclerosis complex]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 Feb 38 (2): 154-157. Huang Chao, Zhang Qin, Xue Ying, Li Hong, Wang Ti |
| TSC1 loss increases risk for tauopathy by inducing tau acetylation and preventing tau clearance via chaperone-mediated autophagy. Science advances 2021 11 7 (45): eabg3897. Alquezar Carolina, Schoch Kathleen M, Geier Ethan G, Ramos Eliana Marisa, Scrivo Aurora, Li Kathy H, Argouarch Andrea R, Mlynarski Elisabeth E, Dombroski Beth, DeTure Michael, Dickson Dennis W, Yokoyama Jennifer S, Cuervo Ana M, Burlingame Alma L, Schellenberg Gerard D, Miller Timothy M, Miller Bruce L, Kao Aimee |
| Clinicopathological and prognostic impact of somatic mutations in Chinese patients with clear cell renal cell carcinoma. Translational andrology and urology 2020 Dec 9 (6): 2751-2763. Bi Hai, Yin Jipeng, Zhou Lang, Wu Yaqian, Ge Liyuan, Lu Min, Liu Lei, Zhang Hongxian, Zhao Yongzhe, Liu Cheng, Ma Lul |
| Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex. European journal of medical genetics 2022 8 65 (10): 104573. Ng Samuel Yl, Luk Ho-Ming, Hau Edgar Wl, Cheng Shirley Sw, Yu Kris Pt, Ho Stephanie, Mok Myth Ts, Lo Ivan |
| Analysis of renal lesions in Chinese tuberous sclerosis complex patients with different types of TSC gene mutations. Genetics and molecular biology 2022 5 45 (2): e20200387. Wang Wenda, Zhao Yang, Wang Xu, Wang Zhan, Cai Yi, Li Hanzhong, Zhang Yus |
| Genomic features of Chinese small cell lung cancer. BMC medical genomics 2022 May 15 (1): 117. Liu Jun, Zhao Zhuxiang, Wei Shuquan, Li Binkai, Zhao Ziw |
| The association of neurodevelopmental abnormalities, congenital heart and renal defects in a tuberous sclerosis complex patient cohort. BMC medicine 2022 4 20 (1): 123. Robinson Jessica, Uzun Orhan, Loh Ne Ron, Harris Isabelle Rose, Woolley Thomas E, Harwood Adrian J, Gardner Jennifer Frances, Syed Yasir Ahm |
| Genotype-phenotype correlation of renal lesions in the tuberous sclerosis complex. Human genome variation 2022 2 9 (1): 5. Muto Yoshinari, Sasaki Hitomi, Sumitomo Makoto, Inagaki Hidehito, Kato Maki, Kato Takema, Miyai Shunsuke, Kurahashi Hiroki, Shiroki Ryoic |
| Spectrum of germline and somatic mitochondrial DNA variants in Tuberous Sclerosis Complex. Frontiers in genetics 2023 2 13 917993. Giannikou Krinio, Martin Katie R, Abdel-Azim Ahmad G, Pamir Kaila J, Hougard Thomas R, Bagwe Shefali, Tang Yan, MacKeigan Jeffrey P, Kwiatkowski David J, Henske Elizabeth P, Lam Hilaire |
| Integrative Analysis of Germline Rare Variants in Clear and Non-Clear Cell Renal Cell Carcinoma. medRxiv : the preprint server for health sciences 2023 1 . Han Seunghun, Camp Sabrina Y, Chu Hoyin, Collins Ryan, Gillani Riaz, Park Jihye, Bakouny Ziad, Ricker Cora A, Reardon Brendan, Moore Nicholas, Kofman Eric, Labaki Chris, Braun David, Choueiri Toni K, AlDubayan Saud H, Van Allen Eliezer |
| Prevalence of Germline Pathogenic Variants in Renal Cancer Predisposition Genes in a Population-Based Study of Renal Cell Carcinoma. Cancers 2024 9 16 (17): . Fiona Bruinsma, Philip Harraka, Susan Jordan, Daniel J Park, Bernard Pope, Jason Steen, Roger L Milne, Graham G Giles, Ingrid Winship, Katherine M Tucker, Melissa C Southey, Tu Nguyen-Dumo |
| Prevalence of Liver Steatosis in Tuberous Sclerosis Complex Patients: A Retrospective Cross-Sectional Study. Journal of clinical medicine 2024 5 13 (10): . Thaïs De Bock, Carola Brussaard, Silke François, Karlien François, Laura Seynaeve, Anna Jansen, Karl Martin Wissing, Peter Jansse |
| Case report: Response to everolimus in a patient with platinum resistant, high grade serous ovarian carcinoma with biallelic TSC2 inactivation. Frontiers in oncology 2024 4 14 1357980. Mariko Peterson, David L Kolin, Panagiotis A Konstantinopoul |
| Genomic Biomarkers Associated with Enfortumab Vedotin Outcomes for Patients with Advanced Urothelial Carcinoma: Analysis of UNITE Study Data. European urology oncology 2024 12 . Tanya Jindal, Cindy Jiang, Omar Alhalabi, Amanda Nizam, Charles Nguyen, Rafee Talukder, Dimitra Bakaloudi, Matthew Davidsohn, Dory Freeman, Michael Glover, Ali Raza Khaki, Sean Evans, Emily Lemke, Rohit Bose, Woogwang Sim, Cameron Pywell, Arnab Basu, Deepak Kilari, Pedro C Barata, Mehmet A Bilen, Yousef Zakharia, Matthew I Milowsky, Sumit A Shah, Joaquim Bellmunt, Petros Grivas, Hamid Emamekhoo, Nancy B Davis, Shilpa Gupta, Christopher Hoimes, Matthew T Campbell, Ajjai Alva, Vadim S Koshk |
- Page last reviewed:Feb 1, 2024
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