Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: INPP5E[original query] |
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Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. Journal of medical genetics 2011 Feb 48 (2): 105-16. Otto Edgar A, Ramaswami Gokul, Janssen Sabine, Chaki Moumita, Allen Susan J, Zhou Weibin, Airik Rannar, Hurd Toby W, Ghosh Amiya K, Wolf Matthias T, Hoppe Bernd, Neuhaus Thomas J, Bockenhauer Detlef, Milford David V, Soliman Neveen A, Antignac Corinne, Saunier Sophie, Johnson Colin A, Hildebrandt Friedhelm, |
Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing. Molecular vision 2015 21 477-86. Xu Yan, Guan Liping, Xiao Xueshan, Zhang Jianguo, Li Shiqiang, Jiang Hui, Jia Xiaoyun, Yang Jianhua, Guo Xiangming, Yin Ye, Wang Jun, Zhang Qingjio |
Enrichment of inflammatory bowel disease and colorectal cancer risk variants in colon expression quantitative trait loci. BMC genomics 2015 16 (1): 138. Hulur Imge, Gamazon Eric R, Skol Andrew D, Xicola Rosa M, Llor Xavier, Onel Kenan, Ellis Nathan A, Kupfer Sonia |
Mapping adipose and muscle tissue expression quantitative trait loci in African Americans to identify genes for type 2 diabetes and obesity. Human genetics 2016 08 135 (8): 869-80. Sajuthi Satria P, Sharma Neeraj K, Chou Jeff W, Palmer Nicholette D, McWilliams David R, Beal John, Comeau Mary E, Ma Lijun, Calles-Escandon Jorge, Demons Jamehl, Rogers Samantha, Cherry Kristina, Menon Lata, Kouba Ethel, Davis Donna, Burris Marcie, Byerly Sara J, Ng Maggie C Y, Maruthur Nisa M, Patel Sanjay R, Bielak Lawrence F, Lange Leslie A, Guo Xiuqing, Sale Michèle M, Chan Kei Hang K, Monda Keri L, Chen Gary K, Taylor Kira, Palmer Cameron, Edwards Todd L, North Kari E, Haiman Christopher A, Bowden Donald W, Freedman Barry I, Langefeld Carl D, Das Swapan |
DGKH genetic risk variant influences gene expression in bipolar affective disorder. Journal of affective disorders 2016 Jul 198 148-57. Kittel-Schneider Sarah, Lorenz Carina, Auer Joyce, Weißflog Lena, Reif Andre |
Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders. Pediatric neurology 2020 3 106 43-49. Radha Rama Devi Akella, Naushad Shaik Mohammad, Lingappa Loke |
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD. NPJ genomic medicine 2021 6 6 (1): 53. Sangermano Riccardo, Deitch Iris, Peter Virginie G, Ba-Abbad Rola, Place Emily M, Zampaglione Erin, Wagner Naomi E, Fulton Anne B, Coutinho-Santos Luisa, Rosin Boris, Dunet Vincent, AlTalbishi Ala'a, Banin Eyal, Sousa Ana Berta, Neves Mariana, Larson Anna, Quinodoz Mathieu, Michaelides Michel, Ben-Yosef Tamar, Pierce Eric A, Rivolta Carlo, Webster Andrew R, Arno Gavin, Sharon Dror, Huckfeldt Rachel M, Bujakowska Kinga |
INPP5E controls ciliary localization of phospholipids and the odor response in olfactory sensory neurons. Journal of cell science 2021 (5): . Ukhanov Kirill, Uytingco Cedric, Green Warren, Zhang Lian, Schurmans Stephane, Martens Jeffrey |
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- Page last updated:Apr 22, 2024
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