Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: ACTA1[original query] |
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Identifying novel biomarkers of gastric cancer through integration analysis of single nucleotide polymorphisms and gene expression profile. The International journal of biological markers 2015 30 (3): e321-6. Wang Tao, Xu Yan, Hou Pe |
New Mutations in NEB Gene Discovered by Targeted Next-Generation Sequencing in Nemaline Myopathy Italian Patients. Journal of molecular neuroscience : MN 2016 Apr . Piga Daniela, Magri Francesca, Ronchi Dario, Corti Stefania, Cassandrini Denise, Mercuri Eugenio, Tasca Giorgio, Bertini Enrico, Fattori Fabiana, Toscano Antonio, Messina Sonia, Moroni Isabella, Mora Marina, Moggio Maurizio, Colombo Irene, Giugliano Teresa, Pane Marika, Fiorillo Chiara, D'Amico Adele, Bruno Claudio, Nigro Vincenzo, Bresolin Nereo, Comi Giacomo Piet |
Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature. Pediatric neurology 2017 8 75 11-16. Moreno Cristiane de Araújo Martins, Abath Neto Osório, Donkervoort Sandra, Hu Ying, Reed Umbertina Conti, Oliveira Acary Sousa Bulle, Bönnemann Carsten, Zanoteli Edm |
New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy. PloS one 2018 12 13 (12): e0207296. Moreau-Le Lan Sarah, Aller Elena, Calabria Ines, Gonzalez-Tarancon Lola, Cardona-Gay Cristina, Martinez-Matilla Marina, Aparisi Maria J, Selles Jorge, Sagath Lydia, Pitarch Inmaculada, Muelas Nuria, Cervera Jose V, Millan Jose M, Pedrola La |
Identification of key pathways and genes in PTEN mutation prostate cancer by bioinformatics analysis. BMC medical genetics 2019 12 20 (1): 191. Sun Jian, Li Shugen, Wang Fei, Fan Caibin, Wang Jianqi |
Genomic study of dilated cardiomyopathy in a group of Mexican patients using site-directed next generation sequencing. Molecular genetics & genomic medicine 2020 9 8 (11): e1504. Carnevale Alessandra, Rosas-Madrigal Sandra, Rosendo-Gutiérrez Rigoberto, López-Mora Enrique, Romero-Hidalgo Sandra, Avila-Vazzini Nydia, Jacobo-Albavera Leonor, Domínguez-Pérez Mayra, Vargas-Alarcón Gilberto, Pérez-Villatoro Fernando, Navarrete-Martínez Juana Inés, Villarreal-Molina María Tere |
Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy. Clinical genetics 2020 Mar . Wang Qi, Hu Zhenxian, Chang Xingzhi, Yu Meng, Xie Zhiying, Lv He, Zhang Wei, Xiong Hui, Yuan Yun, Wang Zhaox |
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients. Molecular genetics & genomic medicine 2020 3 8 (5): e1205. Tsang Mandy H Y, Chiu Annie T G, Kwong Bernard M H, Liang Rui, Yu Mullin H C, Yeung Kit-San, Ho Wetor H L, Mak Christopher C Y, Leung Gordon K C, Pei Steven L C, Fung Jasmine L F, Wong Virginia C N, Muntoni Francesco, Chung Brian H Y, Chan Sophelia H |
[Genotype and phenotype analysis of neonates with neonatal encephalopathy complicated with perinatal hypoxic event]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2021 3 59 (4): 280-285. Xiao T T, Yang L, Wu B B, Peng X M, Wang H J, Cheng G Q, Wang L S, Cao Y, Hu L Y, Zhou W |
Clinico-pathological and gene features of 15 nemaline myopathy patients from a single Chinese neuromuscular center. Acta neurologica Belgica 2023 7 . Lv Haidong, Liu Yin, Chen Ping, Zheng Xianzhao, Qian Qi, Ma Xiaoli, Lv Zheng, Cui Wenhao, Zhou Yaguang, Qu Qianqi |
Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants. European journal of human genetics : EJHG 2023 7 . Alireza Haghighi, Zahra Alvandi, Yalda Nilipour, Amirreza Haghighi, Ruth Kornreich, Shahriar Nafissi, Robert J Desni |
Muscle magnetic resonance imaging involvement patterns in nemaline myopathies. Annals of clinical and translational neurology 2023 6 . Luke Perry, Georgia Stimpson, Leeha Singh, Jasper M Morrow, Sachit Shah, Giovanni Baranello, Francesco Muntoni, Anna Sarko |
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- Page last updated:Apr 22, 2024
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