Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 105 Records) |
| Query Trace: Tuberous Sclerosis and TSC2[original query] |
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| [Identification of a novel TSC2 gene variant in a patient with tuberous sclerosis complex]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 9 38 (9): 877-879. Liu Linli, Yu Chunshui, Yang Herong, Lu Qinglian, Ouyang Fei, Liu Tingti |
| A multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex. European journal of medical genetics 2021 8 64 (10): 104309. B?bol-Pokora Katarzyna, Bielska Marta, Bobeff Katarzyna, Jatczak-Pawlik Izabela, Borkowska Julita, Kotulska Katarzyna, Jó?wiak Sergiusz, M?ynarski Wojciech, Treli?ska Joan |
| The Complex Interplay of Cortex, Cerebellum, and Age in a Cohort of Pediatric Patients With Tuberous Sclerosis Complex. Pediatric neurology 2021 8 123 43-49. Sidira Christina, Vargiami Efthymia, Anastasiou Athanasia, Talimtzi Persefoni, Kyriazi Maria, Dragoumi Pinelopi, Spanou Maria, Ntinopoulos Argirios, Dalpa Efterpi, Evangeliou Athanasios, Zafeiriou Dimitrios |
| 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, |
| Correlation between epilepsy and genotype: A large retrospective tuberous sclerosis complex cohort. Seizure 2021 7 91 273-277. Ding Yifeng, Zhou Yuanfeng, Yu Lifei, Zhang Linmei, Zhou Shuizhen, Wang Yi, Wang |
| [A case of tuberous sclerosis complex due to a novel splicing variant of TSC2 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 6 38 (6): 553-556. Niu Yuping, Huang Sexin, Xu Peiwen, Li Jie, Gao Ming, Chen Xiaowei, Chu Hongxia, Gao Yu |
| Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study. Brain : a journal of neurology 2021 6 144 (12): 3623-3634. Zou Dongfang, Wang Lin, Liao Jianxiang, Xiao Hongdou, Duan Jing, Zhang Tongda, Li Jianbiao, Yin Zhenzhen, Zhou Jing, Yan Haisheng, Huang Yushan, Zhan Nianji, Yang Ying, Ye Jingyu, Chen Fang, Zhu Shida, Wen Feiqiu, Guo Ji |
| 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 |
| 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 |
| [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 |
| 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 |
| Mutation Spectrum of Tuberous Sclerosis Complex Patients in Indian Population. Journal of pediatric genetics 2021 12 10 (4): 274-283. Sudarshan Shruthi, Kumar Atin, Gupta Arun, Bhari Neetu, Sethuraman Gomathy, Kaushal Tanuja, Pradhan Ankita, Sapra Savita, Gupta Neerja, Kaur Punit, Gulati Sheffali, Chakrawarty Biswaroop, Danda Sumita, Bhatt Meenakshi, Kapoor Seema, Girisha Katta M, Sankhyan Naveen, Kabra Madhulika, Chowdhury Madhumita R |
| Oscillatory neural network alterations in young people with tuberous sclerosis complex and associations with co-occurring symptoms of autism spectrum disorder and attention-deficit/hyperactivity disorder. Cortex; a journal devoted to the study of the nervous system and behavior 2021 11 146 50-65. Shephard Elizabeth, McEwen Fiona S, Earnest Thomas, Friedrich Nina, Mörtl Isabelle, Liang Holan, Woodhouse Emma, , Tye Charlotte, Bolton Patrick |
| 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 |
| 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 |
| 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 |
| [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 |
| 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 |
| 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 |
| 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 |
| Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex. Neurogenetics 2024 8 . Hui Jin Shin, Sangbo Lee, Se Hee Kim, Joon Soo Lee, Ji Young Oh, Ara Ko, Hoon-Chul Ka |
| Drug-Resistant Epilepsy in Tuberous Sclerosis Complex Is Associated With TSC2 Genotype: More Findings From the Preventing Epilepsy Using Vigatrin (PREVeNT) Trial. Pediatric neurology 2024 8 159 62-71. Laura S Farach, Melissa A Richard, Aynara C Wulsin, Elizabeth M Bebin, Darcy A Krueger, Mustafa Sahin, Brenda E Porter, Tarrant O McPherson, Jurriaan M Peters, Sarah O'Kelley, Katherine S Taub, Rajsekar Rajaraman, Stephanie C Randle, William M McClintock, Mary Kay Koenig, Michael D Frost, Klaus Werner, Danielle A Nolan, Michael Wong, Gary Cutter, Hope Northrup, Kit Sing Au, |
| 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 |
- Page last reviewed:Feb 1, 2024
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