Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 129 Records) |
| Query Trace: Tuberous Sclerosis[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, |
| Vagus nerve stimulation in children with drug-resistant epilepsy of monogenic etiology. Frontiers in neurology 2022 9 13 951850. Xie Han, Ma Jiayi, Ji Taoyun, Liu Qingzhu, Cai Lixin, Wu |
| 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 |
| Use of perampanel in children with refractory epilepsy of genetic aetiology. Epileptic disorders : international epilepsy journal with videotape 2022 6 24 (4): 687-695. Qu Rui, Dai Yuanyuan, Qu Xiangju, Li Yan, Shao Xuejun, Zhou Rui, Zhu Yali, Chen Xuq |
| 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 |
| Postnatal Cytomegalovirus Infection May Increase the Susceptibility of Tuberous Sclerosis Complex to Autism Spectrum Disorders. Microbiology spectrum 2022 4 10 (3): e0186421. Yang Xiao-Yan, Wang Yang-Yang, Zhou Yue-Peng, He Jing, Mei Meng-Jie, Zhang Meng-Na, Wang Bin, Zhou Wen-Jing, Luo Min-Hua, Wang Qiu-Hong, Li Zhong-Yuan, Xu Yong, Lu Qian, Zou Li-Pi |
| 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 |
| Perivascular epithelioid cell tumour and investigation of genetic susceptibility. BMJ case reports 2022 11 15 (11): . Sadeghi Negin, Smyth Sarah, Damato Stephen, Soleymani Majd Hoom |
| Molecular and Immunophenotypic Correlates of Metastatic Epithelioid Angiomyolipoma Include Alterations of TP53, RB1, and ATRX. Archives of pathology & laboratory medicine 2022 10 . McCarthy Michael R, Nichols Paige E, Sharma Vidit, Stanton Melissa L, Reynolds Jordan P, Pitel Beth A, Halling Kevin C, Lohse Christine M, Herrera-Hernandez Loren, Thompson R Houston, Leibovich Bradley C, Jimenez Rafael E, Boorjian Stephen A, Cheville John C, Gupta Soun |
| 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 |
| 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 |
| Retrospective pharmacogenetic study in a cohort of pediatric tuberous sclerosis complex patients using everolimus. Pharmacogenomics 2023 10 . Julia Concha, Estela Sangüesa, Jose Luis Peña, María Pilar Ribate, Cristina Belén Garc |
| 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, |
| Germline findings in cancer predisposing genes from a small cohort of chordoma patients. Journal of cancer research and clinical oncology 2024 5 150 (5): 227. Margarita Raygada, Liny John, Anne Liu, Julianne Schultz, B J Thomas, Donna Bernstein, Markku Miettinen, Mark Raffeld, Liqiang Xi, Manoj Tyagi, Kenneth Aldape, John Glod, Karlyne M Reilly, Brigitte C Widemann, Mary Frances Wedeki |
| 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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