Human Genome Epidemiology Literature Finder
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Query Trace: TSC1[original query] |
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[Analysis of a patient with tuberous sclerosis complex due to mosaicism TSC2 mutation]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 12 39 (1): 68-71. Liu Weiliang, Li Fang, He Zhixu, Ai Ro |
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 |
Renal phenotypes correlate with genotypes in unrelated individuals with tuberous sclerosis complex in China. Orphanet journal of rare diseases 2022 7 17 (1): 288. Luo Cong, Zhang Ye, Zhang Yu-Shi, Zhang Ming-Xin, Ning Jun, Chen Min-Feng, Li Yuan, Qi Lin, Zu Xiong-Bing, Li Yang-Le, Cai |
Preliminary Screening of a Familial Tuberous Sclerosis Complex Pathogenic Gene. International journal of general medicine 2022 6 15 5247-5252. Wang Yuting, Hu SongNian, Tan XinYu, Sang Qingqing, Shi Peng, Wang Chun, Sang Daoqi |
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 |
Genetic analysis of 18 families with tuberous sclerosis complex. Neurogenetics 2022 5 23 (3): 223-230. Yin Kaili, Lin Nan, Lu Qiang, Jin Liri, Huang Yan, Zhou Xiangqin, Xu Kaifeng, Liu Qing, Zhang X |
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 |
Perinatal adversities in tuberous sclerosis complex: Determinants and neurodevelopmental outcomes. Developmental medicine and child neurology 2022 4 64 (10): 1237-1245. Zhang Alexa X D, Liang Holan, McEwen Fiona S, Tye Charlotte, Woodhouse Emma, Underwood Lisa, Shephard Elizabeth, Sheerin Fintan, , Bolton Patrick |
Mutational Characteristics of Primary Mucosal Melanoma: A Systematic Review. Molecular diagnosis & therapy 2022 2 26 (2): 189-202. Beaudoux Olivia, Oudart Jean-Baptiste, Riffaud Laurence, Visseaux Laetitia, Marchal Aude, Lebre Anne-Sophie, Grange Flore |
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 |
Tuberous sclerosis complex is associated with a novel human tauopathy. Acta neuropathologica 2022 12 145 (1): 1-12. Hwang Ji-Hye L, Perloff Olga S, Gaus Stephanie E, Benitez Camila, Alquezar Carolina, Cosme Celica Q, Nana Alissa L, Vatsavayai Sarat C, Ramos Eliana M, Geschwind Daniel H, Miller Bruce L, Kao Aimee W, Seeley William |
Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex. International journal of molecular sciences 2022 10 23 (19): . Togi Sumihito, Ura Hiroki, Hatanaka Hisayo, Niida |
Genetic variants in LKB1/AMPK/mTOR pathway are associated with clinical outcomes of chemotherapy in non-small cell lung cancer. Thoracic cancer 2022 Oct . Choi Sun Ha, Do Sook Kyung, Lee Shin Yup, Choi Jin Eun, Kang Hyo-Gyoung, Hong Mi Jeong, Lee Jang Hyuck, Lee Won Kee, Jeong Ji Yun, Shin Kyung Min, Do Young Woo, Lee Eung Bae, Park Ji Eun, Lee Yong Hoon, Seo Hyewon, Yoo Seung Soo, Lee Jaehee, Cha Seung Ick, Kim Chang Ho, Park Jae Yo |
TSC2 inactivation, low mutation burden and high macrophage infiltration characterise hepatic angiomyolipomas. Histopathology 2023 9 83 (4): 569-581. Krinio Giannikou, Katarzyna Klonowska, Junko Tsuji, Shulin Wu, Zachary Zhu, Clemens K Probst, Katrina Z Kao, Chin-Lee Wu, Scott Rodig, Adrian Marino-Enriquez, Yoh Zen, Inga-Marie Schaefer, David J Kwiatkows |
Targeted Molecular Profiling of Circulating Cell-Free DNA in Patients With Advanced Hepatocellular Carcinoma. JCO precision oncology 2023 9 7 e2300272. Darren Cowzer, Jessica B White, Joanne F Chou, Pin-Jung Chen, Tae-Hyung Kim, Danny N Khalil, Imane H El Dika, Katrina Columna, Amin Yaqubie, Joseph S Light, Jinru Shia, Hooman Yarmohammadi, Joseph Patrick Erinjeri, Alice C Wei, William Jarnagin, Richard K G Do, David B Solit, Marinela Capanu, Ronak H Shah, Michael F Berger, Ghassan K Abou-Alfa, James J Hardi |
Nasopharyngeal carcinoma patient-derived xenograft mouse models reveal potential drugs targeting cell cycle, mTOR, and autophagy pathways. Translational oncology 2023 9 38 101785. Hsin-Pai Li, Chen-Yang Huang, Kar-Wai Lui, Yin-Kai Chao, Chun-Nan Yeh, Li-Yu Lee, Yenlin Huang, Tung-Liang Lin, Yung-Chia Kuo, Mei-Yuan Huang, Hsien-Chi Fan, An-Chi Lin, Chia-Hsun Hsieh, Kai-Ping Chang, Chien-Yu Lin, Hung-Ming Wang, Mei Chao, Jai-Shin Liu, Yu-Sun Chang, Cheng-Lung H |
Genomic characterization of thymic epithelial tumors in a real-world dataset. ESMO open 2023 9 8 (5): 101627. K Kurokawa, T Shukuya, R A Greenstein, B G Kaplan, H Wakelee, J S Ross, K Miura, K Furuta, S Kato, J Suh, S Sivakumar, E S Sokol, D P Carbone, K Takahas |
Cerebrospinal fluid as a liquid biopsy for molecular characterization of brain metastasis in patients with non-small cell lung cancer. Lung cancer (Amsterdam, Netherlands) 2023 7 182 107292. Georgios Tsakonas, Vasisht Tadigotla, Sudipto K Chakrabortty, Giuseppe Stragliotto, Dalin Chan, Rolf Lewensohn, Wei Yu, Johan K Skog, Per Hydbring, Simon Ekm |
Prenatal diagnosis of tuberous sclerosis complex: Echocardiography, cranial magnetic resonance, and genetic testing of 40 cases with fetal cardiac tumors. Heliyon 2023 7 9 (6): e16980. Neng Jin, Yan Wu, Qing Meng, Qiong L |
Clinical application of next generation sequencing-based haplotype linkage analysis in the preimplantation genetic testing for germline mosaicisms. Orphanet journal of rare diseases 2023 6 18 (1): 137. Dongjia Chen, Yan Xu, Yu Fu, Yali Wang, Yuliang Liu, Chenhui Ding, Bing Cai, Jiafu Pan, Jing Wang, Rong Li, Jing Guo, Han Zhang, Yanhong Zeng, Xiaoting Shen, Canquan Zh |
Outstanding Characteristics of Birt-Hogg-Dube Syndrome in Korea. Diagnostics (Basel, Switzerland) 2023 6 13 (12): . Hye Jung Park, Yong Jun Choi, Chul Hwan Park, Tae Hoon Kim, Sung Soo Lee, Duk Hwan Moon, Kyung-A Lee, Sang Eun Lee, Moo Suk Park, Song Yee Kim, Yoon Soo Chang, Seok Jeong Lee, Ji Ye Jung, Ji-Ho Lee, Su Hwan Lee, Taehee Kim, Sung-Ryeol Kim, Kangjoon Kim, Min Kwang By |
Whole-exome sequencing reveals genetic variants in low-risk and high-risk neuroblastoma. Gene 2023 2 860 147233. Altun Zekiye, Yuan Hongling, Baran Burçin, Akta? Safiye, Sönmez Esra Esmeray, Küçük Can, Olgun N |
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 |
Identification of genetic variants in two families with Keratoconus. BMC medical genomics 2023 11 16 (1): 299. Qinghong Lin, Xuejun Wang, Tian Han, Xingtao Zh |
Genomic Alterations and Tumor Mutation Burden in Merkel Cell Carcinoma. JAMA network open 2023 1 6 (1): e2249674. Brazel Danielle, Kumar Priyanka, Doan Hung, Pan Tianyu, Shen Weining, Gao Ling, Moyers Justin |
Refractive Errors, Retinal Findings, and Genotype of Tuberous Sclerosis Complex: A Retrospective Cohort Study. Yonsei medical journal 2023 1 64 (2): 133-138. Ryu Soyoung, Kang Hoon-Chul, Lee Sung Chul, Byeon Suk Ho, Kim Sung Soo, Lee Christopher Seungk |
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 |
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 |
Chromosome 3p gene alterations as biomarkers for immunocombinations in metastatic renal cell carcinoma: A hypothesis-generating analysis. Pathology, research and practice 2024 1 254 155142. Matteo Rosellini, Veronica Mollica, Andrea Marchetti, Sara Coluccelli, Francesca Giunchi, Elisa Tassinari, Costantino Ricci, Michelangelo Fiorentino, Giovanni Tallini, Dario De Biase, Francesco Massa |
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- Page last updated:Apr 22, 2024
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