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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Disease and ANO5[original query]
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
Human mutation 2013 Aug 34 (8): 1111-8.
Sarkozy Anna, Hicks Debbie, Hudson Judith, Laval Steve H, Barresi Rita, Hilton-Jones David, Deschauer Marcus, Harris Elizabeth, Rufibach Laura, Hwang Esther, Bashir Rumaisa, Walter Maggie C, Krause Sabine, van den Bergh Peter, Illa Isabel, Pénisson-Besnier Isabelle, De Waele Liesbeth, Turnbull Doug, Guglieri Michela, Schrank Bertold, Schoser Benedikt, Seeger Jürgen, Schreiber Herbert, Gläser Dieter, Eagle Michelle, Bailey Geraldine, Walters Richard, Longman Cheryl, Norwood Fiona, Winer John, Muntoni Francesco, Hanna Michael, Roberts Mark, Bindoff Laurence A, Brierley Charlotte, Cooper Robert G, Cottrell David A, Davies Nick P, Gibson Andrew, Gorman Gráinne S, Hammans Simon, Jackson Andrew P, Khan Aijaz, Lane Russell, McConville John, McEntagart Meriel, Al-Memar Ali, Nixon John, Panicker Jay, Parton Matt, Petty Richard, Price Christopher J, Rakowicz Wojtek, Ray Partha, Schapira Anthony H, Swingler Robert, Turner Chris, Wagner Kathryn R, Maddison Paul, Shaw Pamela J, Straub Volker, Bushby Kate, Lochmüller Han
A Pilot Genome-Wide Analysis Study Identifies Loci Associated With Response to Obeticholic Acid in Patients With NASH. GWAS Catalog
Hepatology communications 2019 Dec 3 (12): 1571-1584.
Gawrieh Samer, Guo Xiuqing, Tan Jingyi, Lauzon Marie, Taylor Kent D, Loomba Rohit, Cummings Oscar W, Pillai Sreekumar, Bhatnagar Pallav, Kowdley Kris V, Yates Katherine, Wilson Laura A, Chen Yii-Der Ida, Rotter Jerome I, Chalasani Naga,
Genome-wide association study of cardiac troponin I in the general population. GWAS Catalog
Human molecular genetics 2021 .
Moksnes Marta R, Røsjø Helge, Richmond Anne, Lyngbakken Magnus N, Graham Sarah E, Hansen Ailin Falkmo, Wolford Brooke N, Gagliano Taliun Sarah A, LeFaive Jonathon, Rasheed Humaira, Thomas Laurent F, Zhou Wei, Aung Nay, Surakka Ida, Douville Nicholas J, Campbell Archie, Porteous David J, Petersen Steffen E, Munroe Patricia B, Welsh Paul, Sattar Naveed, Smith George Davey, Fritsche Lars G, Nielsen Jonas B, Åsvold Bjørn Olav, Hveem Kristian, Hayward Caroline, Willer Cristen J, Brumpton Ben M, Omland Torbjø
Identification of Functional Genetic Determinants of Cardiac Troponin T and I in a Multiethnic Population and Causal Associations With Atrial Fibrillation. GWAS Catalog
Circulation. Genomic and precision medicine 2021 11 14 (6): e003460.
Yang Yunju, Bartz Traci M, Brown Michael R, Guo Xiuqing, Zilhão Nuno R, Trompet Stella, Weiss Stefan, Yao Jie, Brody Jennifer A, Defilippi Christopher R, Hoogeveen Ron C, Lin Henry J, Gudnason Vilmundur, Ballantyne Christie M, Dörr Marcus, Jukema J Wouter, Petersmann Astrid, Psaty Bruce M, Rotter Jerome I, Boerwinkle Eric, Fornage Myriam, Jun Goo, Yu Bi
Anoctamin-5 related muscle disease: Clinical and genetic findings in a large European cohort.
Brain : a journal of neurology 2023 3 .
de Bruyn Alexander, Montagnese Federica, Holm-Yildiz Sonja, Poulsen Nanna Scharff, Stojkovic Tanya, Behin Anthony, Palmio Johanna, Jokela Manu, De Bleecker Jan L, de Visser Marianne, van der Kooi Anneke J, Ten Dam Leroy, Domínguez González Cristina, Maggi Lorenzo, Gallone Annamaria, Kostera-Pruszczyk Anna, Macias Anna, ?usakowska Anna, Nedkova Velina, Olive Montse, Álvarez-Velasco Rodrigo, Wanschitz Julia, Paradas Carmen, Mavillard Fabiola, Querin Giorgia, Fernández-Eulate Gorka, Quinlivan Ros, Walter Maggie C, Depuydt Christophe E, Udd Bjarne, Vissing John, Schoser Benedikt, Claeys Kristl
Multi-ancestry genome-wide association study reveals novel genetic signals for lung function decline.
medRxiv : the preprint server for health sciences 2024 12 .
Bonnie K Patchen, Jingwen Zhang, Nathan Gaddis, Traci M Bartz, Jing Chen, Catherine Debban, Hampton Leonard, Ngoc Quynh Nguyen, Jungkun Seo, Courtney Tern, Richard Allen, Dawn L DeMeo, Myriam Fornage, Carl Melbourne, Melyssa Minto, Matthew Moll, George O'Connor, Tess Pottinger, Bruce M Psaty, Stephen S Rich, Jerome I Rotter, Edwin K Silverman, Jeran Stratford, R Graham Barr, Michael H Cho, Sina A Gharib, Ani Manichaikul, Kari North, Elizabeth C Oelsner, Eleanor M Simonsick, Martin D Tobin, Bing Yu, Seung Hoan Choi, Josee Dupuis, Patricia A Cassano, Dana B Hanco
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