Human Genome Epidemiology Literature Finder
Records 1 - 13 (of 13 Records) |
Query Trace: BSCL2[original query] |
---|
The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome. Journal of neurology 2007 Sep 254 (9): 1221-6. DeLuca G C, Ramagopalan S V, Cader M Z, Dyment D A, Herrera B M, Orton S, Degenhardt A, Pugliatti M, Sadovnick A D, Sotgiu S, Ebers G |
Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient. Iranian biomedical journal 2016 Jul . Alaei Mohammad Reza, Talebi Saeed, Ghofrani Mohammad, Taghizadeh Mohsen, Keramatipour Mohamm |
Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients. Journal of the peripheral nervous system : JPNS 2016 Nov . Sun Bo, Chen Zhaohui, Ling Li, Yang Fei, Huang Xushe |
The impact on high-grade serous ovarian cancer of obesity and lipid metabolism-related gene expression patterns: the underestimated driving force affecting prognosis. Journal of cellular and molecular medicine 2017 12 22 (3): 1805-1815. Cuello Mauricio A, Kato Sumie, Liberona Francis |
Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients. Journal of molecular medicine (Berlin, Germany) 2018 6 96 (7): 701-712. Lu Cong, Li Li-Xi, Dong Hai-Lin, Wei Qiao, Liu Zhi-Jun, Ni Wang, Gitler Aaron D, Wu Zhi-Yi |
Screening for SH3TC2, PMP2, and BSCL2 Variants in a Cohort of Chinese Patients with Charcot-Marie-Tooth. Chinese medical journal 2018 Jan 131 (2): 151-155. Zhao Xin, Jiang Ming-Ming, Yan Yi-Zhou, Liu Lei, Xie Yong-Zhi, Li Xiao-Bo, Hu Zheng-Mao, Zi Xiao-Hong, Xia Kun, Tang Bei-Sha, Zhang Ru- |
Novel compound heterozygous variant of BSCL2 identified by whole exome sequencing and multiplex ligation?dependent probe amplification in an infant with congenital generalized lipodystrophy. Molecular medicine reports 2020 4 21 (6): 2296-2302. Xie Bobo, Fan Xin, Lei Yaqin, Yi Shang, Yang Qi, Wang Jin, Qin Zailong, Shen Fei, Luo Jingsi, Shen Yipi |
A comprehensive prognostic signature for glioblastoma patients based on transcriptomics and single cell sequencing. Cellular oncology (Dordrecht) 2021 Jun . Fan Fan, Zhang Hao, Dai Ziyu, Zhang Yakun, Xia Zhiwei, Cao Hui, Yang Kui, Hu Shui, Guo Yong, Ding Fengqin, Cheng Quan, Zhang N |
Targeted massively parallel sequencing for congenital generalized lipodystrophy. Archives of endocrinology and metabolism 2021 5 64 (5): 559-566. Costa-Riquetto Aline D, Santana Lucas S, Caetano Lílian A, Lerário Antônio M, Correia-Deur Joya E M, Bertola Débora R, Kim Chong A, Nery Márcia, Jorge Alexander A L, Teles Milena |
Rare among Rare: Phenotypes of Uncommon CMT Genotypes. Brain sciences 2021 12 11 (12): . Gentile Luca, Russo Massimo, Taioli Federica, Ferrarini Moreno, Aguennouz M'Hammed, Rodolico Carmelo, Toscano Antonio, Fabrizi Gian Maria, Mazzeo An |
[Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of Chinese patients with Charcot-Marie-Tooth disease]. Zhonghua nei ke za zhi 2022 8 61 (8): 901-907. Sun B, He Z Q, Wang H F, Li Y R, Yang F, Cui F, Chen Z H, Huang X |
[Genetic distribution in Chinese patients with hereditary peripheral neuropathy]. Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2022 10 54 (5): 874-883. Liu X X, Duan X H, Zhang S, Sun A P, Zhang Y S, Fan D |
Mutational screening of Greek patients with axonal Charcot-Marie-Tooth disease using targeted Next-Generation Sequencing: clinical & molecular spectrum delineation. Journal of the peripheral nervous system : JPNS 2023 9 . Zoi Kontogeorgiou, Chrisoula Kartanou, Michail Rentzos, Panagiotis Kokotis, Evangelos Anagnostou, Thomas Zambelis, Elisabeth Chroni, Argyris Dinopoulos, Marios Panas, Georgios Koutsis, Georgia Karadi |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: