Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: PNPLA6[original query] |
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Association of sick building syndrome with neuropathy target esterase (NTE) activity in Japanese. Environmental toxicology 2014 Oct 29 (10): 1217-26. Matsuzaka Yasunari, Ohkubo Tomoichi, Kikuti Yukie Y, Mizutani Akiko, Tsuda Michio, Aoyama Yoshiko, Kakuta Kazuhiko, Oka Akira, Inoko Hidetoshi, Sakabe Kou, Ishikawa Satoshi, Kulski Jerzy K, Kimura Mino |
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 novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher?Neuhäuser syndrome. Molecular medicine reports 2018 5 18 (1): 261-267. Zheng Ruizhi, Zhao Yaguang, Wu Jiayu, Wang Yuanmei, Liu Jian-Ling, Zhou Zhi-Ling, Zhou Xiao-Tao, Chen Dan-Na, Liao Wei-Hua, Li Jia- |
Genome-wide scan identifies opioid overdose risk locus close to MCOLN1.
Addiction biology 2019 Jul e12811. Cheng Zhongshan, Yang Bao-Zhu, Zhou Hang, Nunez Yaira, Kranzler Henry R, Gelernter Jo |
Whole exome sequencing and trio analysis to broaden the variant spectrum of genes in idiopathic hypogonadotropic hypogonadism. Asian journal of andrology 2020 11 23 (3): 288-293. Zhang Jian, Tang Shu-Yan, Zhu Xiao-Bin, Li Peng, Lu Jian-Qi, Cong Jiang-Shan, Wang Ling-Bo, Zhang Feng, Li Zhe |
Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders. The Journal of clinical endocrinology and metabolism 2021 Mar . Vishnopolska Sebastian Alexis, Mercogliano Maria Florencia, Camilletti Maria Andrea, Mortensen Amanda Helen, Braslavsky Debora, Keselman Ana, Bergadá Ignacio, Olivieri Federico, Miranda Lucas, Marino Roxana, Ramírez Pablo, Pérez Garrido Natalia, Patiño Mejia Helen, Ciaccio Marta, Di Palma Maria Isabel, Belgorosky Alicia, Martí Marcelo Adrian, Kitzman Jacob Otto, Camper Sally Ann, Pérez-Millán Maria In |
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain. Neurology. Genetics 2022 12 8 (6): e200038. Baviera-Muñoz Raquel, Carretero-Vilarroig Lidón, Vázquez-Costa Juan Francisco, Morata-Martínez Carlos, Campins-Romeu Marina, Muelas Nuria, Sastre-Bataller Isabel, Martínez-Torres Irene, Pérez-García Julia, Sivera Rafael, Sevilla Teresa, Vilchez Juan J, Jaijo Teresa, Espinós Carmen, Millán Jose M, Bataller Luis, Aller Ele |
Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders. bioRxiv : the preprint server for biology 2023 6 . James Liu, Yi He, Cara Lwin, Marina Han, Bin Guan, Amelia Naik, Chelsea Bender, Nia Moore, Laryssa A Huryn, Yuri Sergeev, Haohua Qian, Yong Zeng, Lijin Dong, Pinghu Liu, Jingqi Lei, Carl J Haugen, Lev Prasov, Ruifang Shi, Hélène Dollfus, Petros Aristodemou, Yannik Laich, Andrea H Németh, John Taylor, Susan Downes, Maciej Krawczynski, Isabelle Meunier, Melissa Strassberg, Jessica Tenney, Josephine Gao, Matthew A Shear, Anthony T Moore, Jacque L Duncan, Beatriz Menendez, Sarah Hull, Andrea Vincent, Carly E Siskind, Elias I Traboulsi, Craig Blackstone, Robert Sisk, Virginia Utz, Andrew R Webster, Michel Michaelides, Gavin Arno, Matthis Synofzik, Robert B Hufnag |
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- Page last updated:Apr 22, 2024
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