Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 66 Records) |
| Query Trace: Disease and TSC2[original query] |
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| Spectrum of Somatic Cancer Gene Variations Among Adults With Appendiceal Cancer by Age at Disease Onset. JAMA network open 2020 12 3 (12): e2028644. Holowatyj Andreana N, Eng Cathy, Wen Wanqing, Idrees Kamran, Guo Xing |
| 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 |
| 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, |
| Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India. American journal of medical genetics. Part A 2021 5 185 (8): 2345-2355. Moirangthem Amita, Mandal Kausik, Saxena Deepti, Srivastava Priyanka, Gambhir Poonam Singh, Agrawal Neha, Shambhavi Arya, Nampoothiri Sheela, Phadke Shubha |
| 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 |
| Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study. EBioMedicine 2021 Apr 66 103309. Amanat Sana, Gallego-Martinez Alvaro, Sollini Joseph, Perez-Carpena Patricia, Espinosa-Sanchez Juan M, Aran Ismael, Soto-Varela Andres, Batuecas-Caletrio Angel, Canlon Barbara, May Patrick, Cederroth Christopher R, Lopez-Escamez Jose |
| 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 |
| Renal Neoplasia in Polycystic Kidney Disease: An Assessment of Tuberous Sclerosis Complex-associated Renal Neoplasia and PKD1/TSC2 Contiguous Gene Deletion Syndrome. European urology 2021 12 81 (3): 229-233. Gupta Sounak, Lohse Christine M, Rowsey Ross, McCarthy Michael R, Shen Wei, Herrera-Hernandez Loren, Boorjian Stephen A, Houston Thompson R, Jimenez Rafael E, Leibovich Bradley C, Cheville John |
| 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 |
| Clinical Outcomes of Genotype-Matched Therapy for Recurrent Gynecological Cancers: A Single Institutional Experience. Healthcare (Basel, Switzerland) 2021 10 9 (10): . Sawada Kiyoka, Nakayama Kentaro, Nakamura Kohei, Yoshimura Yuki, Razia Sultana, Ishikawa Masako, Yamashita Hitomi, Ishibashi Tomoka, Sato Seiya, Kyo Sato |
| Genetic profile of primary plasma cell leukemia in Korea: comparison with plasma cell myeloma. Leukemia & lymphoma 2021 10 63 (2): 385-394. Lee Youngeun, Yun Jiwon, Jeong Dajeong, Ryu Sohee, Kwon Seok Ryun, Yun Hongseok, Kim Sung Min, Park Jae Hyeon, Lee Dong So |
| Evaluation of candidate genes in a Chinese cohort of atypical Rolandic epilepsy. Epileptic disorders : international epilepsy journal with videotape 2021 Jul . Hu Xiaoyue, Tang Jihong, Hua Ying, Wang Yanping, Huang Ji |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 the Pathogenic Variants of Genes Using a Gene Panel in Turkish Epilepsy Patients. Clinical laboratory 2022 Jun 68 (6): . Gun-Bilgic Dilek, Polat Muzaff |
| Genetic insights into thymic carcinomas and thymic neuroendocrine neoplasms denote prognosis signatures and pathways. Chinese medical journal 2023 9 . Shuyuan Wang, Zhitao Gu, Lei Zhu, Yuchen Han, Hong Yu, Wentao Fang, Baohui H |
| 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 |
| Next-generation sequencing of uveal melanoma with clinical and histological correlations: Prognostic value of new mutations in the PI3K/AKT/mTOR pathway. Clinical & experimental ophthalmology 2023 10 . Manuel Pérez-Pérez, Alessandro Agostino, Carmen García de Sola-Llamas, Michael Ruvolo, Angel Vilches-Arenas, M Isabel Relimpio-López, Francisco Espejo-Arjona, Laura Macías-García, Manuel De Miguel-Rodríguez, Antonio García-Escudero, Miguel A Idoate, Juan J Ríos-Mart |
| Investigation of patients with childhood epilepsy in single center: Comprehensive genetic testing experience. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2024 7 . Hamide Betul Gerik-Celebi, ?pek Dokurel Çetin, Hilmi Bolat, Gul Unsel-Bol |
| 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 |
| Clinical utility of plasma cell-free DNA in pancreatic neuroendocrine neoplasms. Endocrine-related cancer 2024 1 . Darren Cowzer, Ronak H Shah, Joanne F Chou, Ritika Kundra, Sippy Punn, Laura Fiedler, April DeMore, Marinela Capanu, Michael F Berger, Diane Reidy-Lagunes, Nitya R |
- Page last reviewed:Feb 1, 2024
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