Human Genome Epidemiology Literature Finder
|
Records 1 - 30 (of 183 Records) |
| Query Trace: TSC2[original query] |
|---|
| [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 |
| Germline Mutation Landscape and Associated Clinical Characteristics in Chinese Patients With Renal Cell Carcinoma. Frontiers in oncology 2021 12 11 737547. Kong Wen, Yang Tongtong, Wen Xiaodong, Mu Zhongyi, Zhao Cheng, Han Sujun, Tian Jing, Zhang Xinhao, Zhou Tao, Zhang Yanrui, Lou Feng, Cao Shanbo, Wang Huina, Zhang J |
| Risk Factors Associated with Refractory Epilepsy in Patients with Tuberous Sclerosis Complex: A Systematic Review. Journal of clinical medicine 2021 12 10 (23): . Miszewska Dominika, Sugalska Monika, Jó?wiak Sergiu |
| Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis. BMC pulmonary medicine 2022 9 22 (1): 354. Huang Jiannan, Xu Wenshuai, Liu Peng, Liu Yaping, Shen Cheng, Liu Song, Wang Yani, Wang Jun, Zhang Tengyue, He Yudi, Cheng Chongsheng, Yang Luning, Zhang Weihong, Tian Xinlun, Xu Kai-Fe |
| 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 |
| Molecular Analysis of Luminal Androgen Receptor Reveals Activated Pathways and Potential Therapeutic Targets in Breast Cancer. Cancer genomics & proteomics 0 19 (4): 464-476. Stella Stefania, Vitale Silvia Rita, Massimino Michele, Motta Gianmarco, Longhitano Claudio, Lanzafame Katia, Martorana Federica, Fazzari Carmine, Vecchio Giada Maria, Tirrò Elena, Inzerilli Nicola, Carciotto Rosaria, Manzella Livia, Caruso Michele, Vigneri Pao |
| 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 |
| 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 |
| 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 |
| Rap_GAP Domain of TSC2 Contributes to Tumor Suppression Through mTOR Signaling in Human Hepatocellular Carcinoma. DNA and cell biology 2022 2 41 (2): 215-224. Cui Mengying, Jiang Weibo, Sheng Jiyao, Wu Jiacheng, Zhang Xuew |
| 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 |
| A novel mutation in the TSC2 gene protects against colorectal cancer in the Mexican population. Gaceta medica de Mexico 2022 12 158 (5): 283-288. González-Villaseñor Christian O, Ramírez-Guerrero Angélica A, Moreno-Ortiz José M, Leal-Ugarte Evelia, Peralta-Leal Valeria, Macías-Gómez Nelly |
| [Analysis of TSC2 gene variant in a neonate with tuberous sclerosis complex]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 12 39 (12): 1390-1392. Zhan Canyang, Chen Lih |
| 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 |
| Analysis of the Pathogenic Variants of Genes Using a Gene Panel in Turkish Epilepsy Patients. Clinical laboratory 2022 Jun 68 (6): . Gun-Bilgic Dilek, Polat Muzaff |
| 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 |
| Prevalence and clinical implications of germline pathogenic variants in cancer predisposing genes in young patients across sarcoma subtypes. Journal of medical genetics 2023 8 . Nathalia de Angelis de Carvalho, Karina Miranda Santiago, Joyce Maria Lisboa Maia, Felipe D'Almeida Costa, Maria Nirvana Formiga, Diogo Cordeiro de Queiroz Soares, Daniele Paixão, Celso Abdon Lopes de Mello, Cecilia Maria Lima da Costa, José Claudio Casali da Rocha, Barbara Rivera, Dirce Maria Carraro, Giovana Tardin Torrez |
| 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 |
| Association of PI3K/AKT/mTOR pathway autophagy-related gene polymorphisms with pulmonary tuberculosis susceptibility in a Chinese population. Revista da Sociedade Brasileira de Medicina Tropical 2023 7 56 e01042023. Juan He, Shengyuan Liu, Xujun Guo, Fan Zhang, Yuzheng Fan, Lijuan Wu, Howard Eugene Takiff, Yashuang Zh |
| 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 |
| 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 |
| Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders. The Journal of molecular diagnostics : JMD 2023 4 . Se Hee Kim, Soon Sung Kwon, Mi Ri Park, Hyeon Ah Lee, Ji Hun Kim, JiHoon Cha, Sangwoo Kim, Seung Tae Baek, Se Hoon Kim, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Ka |
| Nexus between genome-wide copy number variations and autism spectrum disorder in Northeast Han Chinese population. BMC psychiatry 2023 2 23 (1): 96. Qiu Shuang, Qiu Yingjia, Li Yong, Zhu Xiaojuan, Liu Yunkai, Qiao Yichun, Cheng Yi, Liu Yaw |
| 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 |
| mTOR pathway candidate genes and obesity interaction on breast cancer risk in black women from the Women's Circle of Health Study. Cancer causes & control : CCC 2023 2 . Ilozumba Mmadili N, Yaghjyan Lusine, Datta Susmita, Zhao Jinying, Hong Chi-Chen, Lunetta Kathryn L, Zirpoli Gary, Bandera Elisa V, Palmer Julie R, Yao Song, Ambrosone Christine B, Cheng Ting-Yuan Dav |
| 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 |
| Genotype and phenotype characteristics of West syndrome in 20 Vietnamese children: Two novel variants detected by next-generation sequencing. Epilepsy research 2023 1 190 107094. Duc Nguyen Minh, Thu Nguyen Thuy Minh, Bui Chi-Bao, Hoa Giang, Le Trung Hieu Nguy |
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 29, 2023
- Content source: