Human Genome Epidemiology Literature Finder
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Records 1 - 10 (of 10 Records) |
| Query Trace: Disease and FBN2[original query] |
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| Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. Human molecular genetics 2014 Nov 23 (21): 5827-37. Ratnapriya Rinki, Zhan Xiaowei, Fariss Robert N, Branham Kari E, Zipprer David, Chakarova Christina F, Sergeev Yuri V, Campos Maria M, Othman Mohammad, Friedman James S, Maminishkis Arvydas, Waseem Naushin H, Brooks Matthew, Rajasimha Harsha K, Edwards Albert O, Lotery Andrew, Klein Barbara E, Truitt Barbara J, Li Bingshan, Schaumberg Debra A, Morgan Denise J, Morrison Margaux A, Souied Eric, Tsironi Evangelia E, Grassmann Felix, Fishman Gerald A, Silvestri Giuliana, Scholl Hendrik P N, Kim Ivana K, Ramke Jacqueline, Tuo Jingsheng, Merriam Joanna E, Merriam John C, Park Kyu Hyung, Olson Lana M, Farrer Lindsay A, Johnson Matthew P, Peachey Neal S, Lathrop Mark, Baron Robert V, Igo Robert P, Klein Ronald, Hagstrom Stephanie A, Kamatani Yoichiro, Martin Tammy M, Jiang Yingda, Conley Yvette, Sahel Jose-Alan, Zack Donald J, Chan Chi-Chao, Pericak-Vance Margaret A, Jacobson Samuel G, Gorin Michael B, Klein Michael L, Allikmets Rando, Iyengar Sudha K, Weber Bernhard H, Haines Jonathan L, Léveillard Thierry, Deangelis Margaret M, Stambolian Dwight, Weeks Daniel E, Bhattacharya Shomi S, Chew Emily Y, Heckenlively John R, Abecasis Gonçalo R, Swaroop Ana |
| Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration. PloS one 2016 11 (3): e0152047. Duvvari Maheswara R, van de Ven Johannes P H, Geerlings Maartje J, Saksens Nicole T M, Bakker Bjorn, Henkes Arjen, Neveling Kornelia, Rosario Marisol Del, Westra Dineke, van den Heuvel Lambertus P W J, Schick Tina, Fauser Sascha, Boon Camiel J F, Hoyng Carel B, Jong Eiko K de, Hollander Anneke I d |
| Femoral Artery Aneurysm Repair in a Patient With a Fibrillin-2 Mutation. Vascular and endovascular surgery 2018 5 52 (7): 583-586. Ratschiller Thomas, Müller Hannes, Schachner Thomas, Fellner Franz, Sulzbacher Gregor, Zierer Andre |
| Gene polymorphisms of fibronectin rs2289202 and fibrillin 2 rs331069 associate with vascular disease, the TAMRISK study. Biomedical reports 2018 Jan 8 (1): 65-68. Kunnas Tarja, Solakivi Tiina, Nikkari Seppo |
| Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. Genetics in medicine : official journal of the American College of Medical Genetics 2019 Jan . Renner Sina, Schüler Helke, Alawi Malik, Kolbe Verena, Rybczynski Meike, Woitschach Rixa, Sheikhzadeh Sara, Stark Veronika C, Olfe Jakob, Roser Elke, Seggewies Friederike Sophia, Mahlmann Adrian, Hempel Maja, Hartmann Melanie J, Hillebrand Mathias, Wieczorek Dagmar, Volk Alexander Erich, Kloth Katja, Koch-Hogrebe Margarete, Abou Jamra Rami, Mitter Diana, Altmüller Janine, Wey-Fabrizius Alexandra, Petersen Christine, Rau Isabella, Borck Guntram, Kubisch Christian, Mir Thomas S, von Kodolitsch Yskert, Kutsche Kerstin, Rosenberger Geo |
| Meta-analysis of genome-wide association study identifies FBN2 as a novel locus associated with systemic lupus erythematosus in Thai population.
Arthritis research & therapy 2020 Aug 22 (1): 185. Tangtanatakul Pattarin, Thumarat Chisanu, Satproedprai Nusara, Kunhapan Punna, Chaiyasung Tassamonwan, Klinchanhom Siriwan, Wang Yong-Fei, Wei Wei, Wongshinsri Jeerapat, Chiewchengchol Direkrit, Rodsaward Pongsawat, Ngamjanyaporn Pintip, Suangtamai Thanitta, Mahasirimongkol Surakameth, Pisitkun Prapaporn, Hirankarn Natti |
| 99-Case Study of Sporadic Aortic Dissection by Whole Exome Sequencing Indicated Novel Disease-Associated Genes and Variants in Chinese Population. BioMed research international 2020 2020 7857043. Wang Zanxin, Zhuang Xianmian, Chen Bailang, Wen Junmin, Peng Fang, Liu Xiling, Wei Minx |
| Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications. American journal of human genetics 2024 9 . Sara Mansoorshahi, Anji T Yetman, Malenka M Bissell, Yuli Y Kim, Hector I Michelena, Julie De Backer, Laura Muiño Mosquera, Dawn S Hui, Anthony Caffarelli, Maria G Andreassi, Ilenia Foffa, Dongchuan Guo, Rodolfo Citro, Margot De Marco, Justin T Tretter, Shaine A Morris, Simon C Body, Jessica X Chong, Michael J Bamshad, , , , Dianna M Milewicz, Siddharth K Praka |
| Identification of 16 novel Alzheimer's disease susceptibility loci using multi-ancestry meta-analyses of clinical Alzheimer's disease and AD-by-proxy cases from four whole genome sequencing datasets. medRxiv : the preprint server for health sciences 2024 9 . Julian Daniel Sunday Willett, Mohammad Waqas, Younjung Choi, Tiffany Ngai, Kristina Mullin, Rudolph E Tanzi, Dmitry Prokopen |
| Tenascin-C-Matrix Metalloproteinase-3 Phenotype and the Risk of Tendinopathy in High-Performance Athletes: A Case-Control Study. Diagnostics (Basel, Switzerland) 2024 11 14 (22): . Lucas Rafael Lopes, Marcus Vinícius Galvão Amaral, Rodrigo Araujo Goes, Valéria Tavares, Francisca Dias, Rui Medeiros, Daniel Escorsim Machado, Jamila Alessandra Peri |
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