Human Genome Epidemiology Literature Finder
Records 1 - 16 (of 16 Records) |
Query Trace: Angiomyolipoma and TSC1[original query] |
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Clinical symptoms of tuberous sclerosis complex in patients with an identical TSC2 mutation. Medical science monitor : international medical journal of experimental and clinical research 2005 May 11 (5): CR230-234. Rok Paulina, Kasprzyk-Obara Jolanta, Doma?ska-Pakie?a Dorota, Jó?wiak Sergiu |
Focal cortical dysplasia: a genotype-phenotype analysis of polymorphisms and mutations in the TSC genes. Epilepsia 2009 Jun 50 (6): 1396-408. Gumbinger Christoph, Rohsbach Constantin B, Schulze-Bonhage Andreas, Korinthenberg Rudolf, Zentner Josef, Häffner Monika, Fauser Susan |
Tuberous sclerosis complex: genotype/phenotype correlation of retinal findings. Ophthalmology 2012 Sep 119 (9): 1917-23. Aronow Mary E, Nakagawa Jo Anne, Gupta Ajay, Traboulsi Elias I, Singh Arun |
Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2. European journal of human genetics : EJHG 2015 Mar . Kwiatkowski David J, Palmer Michael R, Jozwiak Sergiusz, Bissler John, Franz David, Segal Scott, Chen David, Sampson Julian |
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development. PLoS genetics 2016 Aug 12 (8): e1006242. Giannikou Krinio, Malinowska Izabela A, Pugh Trevor J, Yan Rachel, Tseng Yuen-Yi, Oh Coyin, Kim Jaegil, Tyburczy Magdalena E, Chekaluk Yvonne, Liu Yang, Alesi Nicola, Finlay Geraldine A, Wu Chin-Lee, Signoretti Sabina, Meyerson Matthew, Getz Gad, Boehm Jesse S, Henske Elizabeth P, Kwiatkowski David |
Genotype-phenotype correlation of patients with tuberous sclerosis complex-associated renal angiomyolipoma: a descriptive study. Human pathology 2018 7 82 61-67. Li Shuqiang, Zhang Yushi, Wang Zhiyong, Yang Yanfeng, Gao Wansheng, Li Dongsheng, Wei Jinxi |
A genome-wide association study implicates NR2F2 in lymphangioleiomyomatosis pathogenesis.
The European respiratory journal 2019 Apr . Kim Wonji, Giannikou Krinio, Dreier John R, Lee Sanghun, Tyburczy Magdalena E, Silverman Edwin K, Radzikowska El?bieta, Wu Shulin, Wu Chin-Lee, Henske Elizabeth P, Hunninghake Gary, Carel Havi, Roman Antonio, Pujana Miquel Angel, Moss Joel, Won Sungho, Kwiatkowski David |
Mutational analysis of renal angiomyolipoma associated with tuberous sclerosis complex and the outcome of short-term everolimus therapy. Scientific reports 2019 Oct 9 (1): 14337. Ni Jianxin, Yan Fengqi, Qin Weijun, Yu Lei, Zhang Geng, Liu Fei, Yang Xiaojian, Yang Bo, Hao Chunlin, Wang Teng, Liu Pengfei, Yuan Jianlin, Wu Guoj |
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, |
Normalization of Enzyme Expression and Activity Regulating Vitamin A Metabolism Increases RAR-Beta Expression and Reduces Cellular Migration and Proliferation in Diseases Caused by Tuberous Sclerosis Gene Mutations. Frontiers in oncology 2021 6 11 644592. Abdelwahab Elhusseiny Mohamed Mahmoud, Bovari-Biri Judit, Smuk Gabor, Harko Tunde, Fillinger Janos, Moldvay Judit, Krymskaya Vera P, Pongracz Judit |
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 |
Everolimus in Invasive Malignant Renal Epithelioid Angiomyolipoma. Frontiers in oncology 2021 2 10 610858. Guo Gang, Gu Liangyou, Zhang |
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 |
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 |
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 |
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- Page last updated:Apr 22, 2024
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