Human Genome Epidemiology Literature Finder
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Records 1 - 13 (of 13 Records) |
| Query Trace: 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 |
| 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 |
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 |
| Screening for GFAP rearrangements in a cohort of Alexander disease and undetermined leukoencephalopathy patients. European journal of medical genetics 2015 Sep 58 (9): 466-70. Ferreira Marie-Céleste, Dorboz Imen, Rodriguez Diana, Boespflug Tanguy Odi |
| 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 |
| Hypomyelinating leukodystrophies in adults: Clinical and genetic features. European journal of neurology 2020 11 28 (3): 934-944. Di Bella Daniela, Magri Stefania, Benzoni Chiara, Farina Laura, Maccagnano Carmelo, Sarto Elisa, Moscatelli Marco, Baratta Silvia, Ciano Claudia, Piacentini Sylvie H M J, Draghi Lara, Mauro Elena, Pareyson Davide, Gellera Cinzia, Taroni Franco, Salsano Etto |
| 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 |
| Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population. American journal of medical genetics. Part A 2024 10 e63914. Namanpreet Kaur, Michelle C do Rosario, Purvi Majethia, Selinda Mascarenhas, Lakshmi Priya Rao, Karthik Vijay Nair, Bhagesh Hunakunti, Adarsh Pooradan Prasannakumar, Rohit Naik, Dhanya Lakshmi Narayanan, Shalini S Nayak, Vivekananda Bhat, Suvasini Sharma, Y Ramesh Bhat, B L Yatheesha, Rajesh Kulkarni, Siddaramappa J Patil, Sheela Nampoothiri, Shahyan Siddiqui, Katta Mohan Girisha, Stephanie Bielas, Anju Shuk |
- Page last reviewed:Feb 1, 2024
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