Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: Pelizaeus-Merzbacher Disease and PLP1[original query] |
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Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus-Merzbacher disease. Prenatal diagnosis 2002 1 21 (13): 1133-6. Inoue K, Kanai M, Tanabe Y, Kubota T, Kashork C D, Wakui K, Fukushima Y, Lupski J R, Shaffer L |
PLP1 and GPM6B intragenic copy number analysis by MAPH in 262 patients with hypomyelinating leukodystrophies: Identification of one partial triplication and two partial deletions of PLP1. Neurogenetics 2006 Mar 7 (1): 31-7. Combes Patricia, Bonnet-Dupeyron Marie-Noelle, Gauthier-Barichard Fernande, Schiffmann Raphael, Bertini Enrico, Rodriguez Diana, Armour John A L, Boespflug-Tanguy Odile, Vaurs-Barrière Catheri |
Genomewide association study of movement-related adverse antipsychotic effects.
Biological psychiatry 2010 Feb 67 (3): 279-82. Aberg Karolina, Adkins Daniel E, Bukszár József, Webb Bradley T, Caroff Stanley N, Miller Del D, Sebat Jonathan, Stroup Scott, Fanous Ayman H, Vladimirov Vladimir I, McClay Joseph L, Lieberman Jeffrey A, Sullivan Patrick F, van den Oord Edwin J C |
PLP1 gene analysis in 88 patients with leukodystrophy. Clinical genetics 2013 Dec 84 (6): 566-71. Martínez-Montero P, Muñoz-Calero M, Vallespín E, Campistol J, Martorell L, Ruiz-Falcó M J, Santana A, Pons R, Dinopoulos A, Sierra C, Nevado J, Molano |
Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease. Colombia medica (Cali, Colombia) 2018 8 49 (2): 182-187. Velasco Parra Harvy Mauricio, Maradei Anaya Silvia Juliana, Acosta Guio Johanna Carolina, Arteaga Diaz Clara Eugenia, Prieto Rivera Juan Carl |
Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients. PloS one 2018 2 13 (2): e0188869. Ji Haoran, Li Dongxiao, Wu Ye, Zhang Quanli, Gu Qiang, Xie Han, Ji Taoyun, Wang Huifang, Zhao Lu, Zhao Haijuan, Yang Yanling, Feng Hongchun, Xiong Hui, Ji Jinhua, Yang Zhixian, Kou Liping, Li Ming, Bao Xinhua, Chang Xingzhi, Zhang Yuehua, Li Li, Li Huijuan, Niu Zhengping, Wu Xiru, Xiao Jiangxi, Jiang Yuwu, Wang Jingm |
PLP1 Mutations in Patients with Multiple Sclerosis: Identification of a New Mutation and Potential Pathogenicity of the Mutations. Journal of clinical medicine 2018 10 7 (10): . Cloake Nancy C, Yan Jun, Aminian Atefeh, Pender Michael P, Greer Judith |
Prenatal diagnosis of PLP1 duplication by single nucleotide polymorphism array in a family with Pelizaeus-Merzbacher disease. Aging 2021 1 13 (1): 1488-1497. Xue Huili, Yu Aili, Chen Xuemei, Lin Na, Lin Min, Huang Hailong, Xu Liang |
Genotype-phenotype correlation and natural history analyses in a Chinese cohort with pelizaeus-merzbacher disease. Orphanet journal of rare diseases 2022 3 17 (1): 137. Duan Ruoyu, Ji Haoran, Yan Huifang, Wang Junyu, Zhang Yu, Zhang Qian, Li Dongxiao, Cao Binbin, Gu Qiang, Wu Ye, Jiang Yuwu, Li Ming, Wang Jingm |
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- Page last updated:Apr 29, 2024
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