Human Genome Epidemiology Literature Finder
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Records 1 - 6 (of 6 Records) |
| Query Trace: Disease and PLEC[original query] |
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| De novo microduplications at 1q41, 2q37.3, and 8q24.3 in patients with VATER/VACTERL association. European journal of human genetics : EJHG 2013 Dec 21 (12): 1377-82. Hilger Alina, Schramm Charlotte, Pennimpede Tracie, Wittler Lars, Dworschak Gabriel C, Bartels Enrika, Engels Hartmut, Zink Alexander M, Degenhardt Franziska, Müller Annette M, Schmiedeke Eberhard, Grasshoff-Derr Sabine, Märzheuser Stefanie, Hosie Stuart, Holland-Cunz Stefan, Wijers Charlotte H W, Marcelis Carlo L M, van Rooij Iris A L M, Hildebrandt Friedhelm, Herrmann Bernhard G, Nöthen Markus M, Ludwig Michael, Reutter Heiko, Draaken Mark |
| A Missense Variant in PLEC Increases Risk of Atrial Fibrillation. Journal of the American College of Cardiology 2017 Oct 70 (17): 2157-2168. Thorolfsdottir Rosa B, Sveinbjornsson Gardar, Sulem Patrick, Helgadottir Anna, Gretarsdottir Solveig, Benonisdottir Stefania, Magnusdottir Audur, Davidsson Olafur B, Rajamani Sridharan, Roden Dan M, Darbar Dawood, Pedersen Terje R, Sabatine Marc S, Jonsdottir Ingileif, Arnar David O, Thorsteinsdottir Unnur, Gudbjartsson Daniel F, Holm Hilma, Stefansson Ka |
| Whole exome sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer. International journal of cancer 2018 May . Paumard-Hernández Beatriz, Calvete Oriol, Inglada Pérez Lucia, Tejero Héctor, Al-Shahrour Fátima, Pita Guillermo, Barroso Alicia, Carlos Triviño Juan, Urioste Miguel, Valverde Claudia, González Billalabeitia Enrique, Quiroga Vanesa, Francisco Rodríguez Moreno Juan, Fernández Aramburo Antonio, López Cristina, Maroto Pablo, Sastre Javier, José Juan Fita María, Duran Ignacio, Lorenzo-Lorenzo Isabel, Iranzo Patricia, García Del Muro Xavier, Ros Silverio, Zambrana Francisco, María Autran Ana, Benítez Javi |
| Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy. Orphanet journal of rare diseases 2020 6 15 (1): 160. Liang Wen-Chen, Jong Yuh-Jyh, Wang Chien-Hua, Wang Chen-Hua, Tian Xia, Chen Wan-Zi, Kan Tzu-Min, Minami Narihiro, Nishino Ichizo, Wong Lee-Jun |
| Whole-genome sequencing reveals novel ethnicity-specific rare variants associated with Alzheimer's disease. Molecular psychiatry 2022 3 27 (5): 2554-2562. Shigemizu Daichi, Asanomi Yuya, Akiyama Shintaro, Mitsumori Risa, Niida Shumpei, Ozaki Kouic |
| Expression of risk genes linked to vitamin D receptor super-enhancer regions and their association with phenotype severity in multiple sclerosis. Frontiers in neurology 2023 1 13 1064008. Orton Sarah M, Sangha Amarpreet, Gupta Mehul, Martens Kristina, Metz Luanne M, de Koning A P J, Pfeffer Gera |
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