Human Genome Epidemiology Literature Finder
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Records 1 - 8 (of 8 Records) |
| Query Trace: Disease and CYP7B1[original query] |
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| Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations. Clinical genetics 2011 1 81 (2): 150-7. Arnoldi A, Crimella C, Tenderini E, Martinuzzi A, D'Angelo M G, Musumeci O, Toscano A, Scarlato M, Fantin M, Bresolin N, Bassi M |
| Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegia. Molecular and cellular probes 2015 Dec . Schubert Sarah F, Hoffjan Sabine, Dekomien Gabrie |
| A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings. Journal of neurology 2016 Jun . Polymeris Alexandros A, Tessa Alessandra, Anagnostopoulou Katherine, Rubegni Anna, Galatolo Daniele, Dinopoulos Argirios, Gika Artemis D, Youroukos Sotiris, Skouteli Eleni, Santorelli Filippo M, Pons Ros |
| An exploratory study by DMET array identifies a germline signature associated with imatinib response in gastrointestinal stromal tumor. The pharmacogenomics journal 2019 Aug 19 (4): 390-400. Ravegnini Gloria, Urbini Milena, Simeon Vittorio, Genovese Chiara, Astolfi Annalisa, Nannini Margherita, Gatto Lidia, Saponara Maristella, Ianni Manuela, Indio Valentina, Brandi Giovanni, Trino Stefania, Hrelia Patrizia, Biasco Guido, Angelini Sabrina, Pantaleo Maria |
| Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China. Molecular neurodegeneration 2018 07 13 (1): 36. Dong En-Lin, Wang Chong, Wu Shuang, Lu Ying-Qian, Lin Xiao-Hong, Su Hui-Zhen, Zhao Miao, He Jin, Ma Li-Xiang, Wang Ning, Chen Wan-Jin, Lin Xia |
| AKR1D1 and CYP7B1 mutations in patients with inborn errors of bile acid metabolism: Possibly underdiagnosed diseases. Pediatrics and neonatology 2019 7 61 (1): 75-83. Chen Ju-Yin, Wu Jia-Feng, Kimura Akihiko, Nittono Hiroshi, Liou Bang-Yu, Lee Chee-Seng, Chen Ho-Sheng, Chiu Yu-Chun, Ni Yen-Hsuan, Peng Steven Shinn-Forng, Lee Wang-Tso, Tsai I-Jung, Chang Mei-Hwei, Chen Huey-Li |
| The effect of CYP7B1 polymorphisms on the risk of coronary heart disease in Hainan Han population. BMC medical genomics 2021 Sep 14 (1): 220. Liang Tiebiao, Zhang Xianbo, Liang Anshan, Wu Haiqing, Wang Qi, He Jun, Long Ming, Jin Tian |
| The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia. Frontiers in neurology 2023 9 14 1239725. Amokelani C Mahungu, Elizabeth Steyn, Niki Floudiotis, Lindsay A Wilson, Jana Vandrovcova, Mary M Reilly, Christopher J Record, Michael Benatar, Gang Wu, Sharika Raga, Jo M Wilmshurst, Kireshnee Naidu, Michael Hanna, Melissa Nel, Jeannine M Heckma |
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