Human Genome Epidemiology Literature Finder
Records 1 - 16 (of 16 Records) |
Query Trace: Syndrome and CTD[original query] |
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The protein tyrosine phosphatase N22 gene is associated with juvenile and adult idiopathic inflammatory myopathy independent of the HLA 8.1 haplotype in British Caucasian patients. Arthritis and rheumatism 2008 Oct 58 (10): 3247-54. Chinoy H, Platt H, Lamb J A, Betteridge Z, Gunawardena H, Fertig N, Varsani H, Davidson J, Oddis C V, McHugh N J, Wedderburn L R, Ollier W E R, Cooper R G, |
Analysis of the MRPL3, DNAJC13 and OFCC1 variants in Chinese Han patients with TS-CTD. Neuroscience letters 2012 May 517 (1): 18-20. Guo Yi, Deng Xiong, Zhang Jie, Su Linyan, Xu Hongbo, Luo Ziqiang, Deng H |
High-resolution HLA analysis of primary and secondary Sjögren's syndrome: a common immunogenetic background in Mexican patients. Rheumatology international 2015 Apr 35 (4): 643-9. Hernández-Molina Gabriela, Vargas-Alarcón Gilberto, Rodríguez-Pérez Jose M, Martínez-Rodríguez Nancy, Lima Guadalupe, Sánchez-Guerrero Jor |
[Personalized Risk Assessment of Adverse Cardiovascular Events in Young Patients With Connective Tissue Dysplasia]. Kardiologiia 2015 55 (3): 75-84. Druk I V, Nechaeva G I, Oseeva O V, Pomorgajlo E G, Maksimov V N, Ivanoshhuk D E, Goltjapin V |
HIRA Gene is Lower Expressed in the Myocardium of Patients with Tetralogy of Fallot. Chinese medical journal 0 129 (20): 2403-2408. Ju Zhao-Ru, Wang Hui-Jun, Ma Xiao-Jing, Ma Duan, Huang Guo-Yi |
Variants of the ABCA3 gene might contribute to susceptibility to interstitial lung diseases in the Chinese population. Scientific reports 2017 Jun 7 (1): 4097. Zhou Wei, Zhuang Yi, Sun Jiapeng, Wang Xiaofen, Zhao Qingya, Xu Lizhi, Wang Yapi |
Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects. American journal of human genetics 2019 12 106 (1): 26-40. Zhao Yingjie, Diacou Alexander, Johnston H Richard, Musfee Fadi I, McDonald-McGinn Donna M, McGinn Daniel, Crowley T Blaine, Repetto Gabriela M, Swillen Ann, Breckpot Jeroen, Vermeesch Joris R, Kates Wendy R, Digilio M Cristina, Unolt Marta, Marino Bruno, Pontillo Maria, Armando Marco, Di Fabio Fabio, Vicari Stefano, van den Bree Marianne, Moss Hayley, Owen Michael J, Murphy Kieran C, Murphy Clodagh M, Murphy Declan, Schoch Kelly, Shashi Vandana, Tassone Flora, Simon Tony J, Shprintzen Robert J, Campbell Linda, Philip Nicole, Heine-Suñer Damian, García-Miñaúr Sixto, Fernández Luis, , Bearden Carrie E, Vingerhoets Claudia, van Amelsvoort Therese, Eliez Stephan, Schneider Maude, Vorstman Jacob A S, Gothelf Doron, Zackai Elaine, Agopian A J, Gur Raquel E, Bassett Anne S, Emanuel Beverly S, Goldmuntz Elizabeth, Mitchell Laura E, Wang Tao, Morrow Bernice |
MECP2 mutation spectrum and its clinical characteristics in a Chinese cohort. Clinical genetics 2020 5 98 (3): 240-250. Wen Yongxin, Wang Jiaping, Zhang Qingping, Chen Yan, Wu Xiru, Bao Xinh |
Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States.
Genes 2021 Jul 12 (7): . Oluwafemi Omobola O, Musfee Fadi I, Mitchell Laura E, Goldmuntz Elizabeth, Xie Hongbo M, Hakonarson Hakon, Morrow Bernice E, Guo Tingwei, Taylor Deanne M, McDonald-McGinn Donna M, Emanuel Beverly S, Agopian A |
Connective tissue disease type mediates branch patency of grafts in open thoracoabdominal aortic reconstruction. Journal of vascular surgery 2021 6 75 (1): 90-98. Sorber Rebecca, Bowen Caitlin J, Hicks Caitlin W, Black James |
Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1. PloS one 2021 16 (5): e0251289. Urbizu Aintzane, Garrett Melanie E, Soldano Karen, Drechsel Oliver, Loth Dorothy, Marcé-Grau Anna, Mestres I Soler Olga, Poca Maria A, Ossowski Stephan, Macaya Alfons, Loth Francis, Labuda Rick, Ashley-Koch Allis |
Concordance and comorbidities among monozygotic twins with tic disorders. Journal of psychiatric research 2021 11 146 297-303. Pedersen Julie Holst, Skytthe Axel, Bybjerg-Grauholm Jonas, Kucukyildiz Asli Sena, Skov Liselotte, Debes Nanette Mol, Tümer Zeyn |
Burden of Rare Genetic Variants in Spontaneous Coronary Artery Dissection With High-risk Features. JAMA cardiology 2022 9 7 (10): 1045-1055. Wang Yu, Starovoytov Andrew, Murad Andrea M, Hunker Kristina L, Brunham Liam R, Li Jun Z, Saw Jacqueline, Ganesh Santhi |
Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing. Circulation. Genomic and precision medicine 2022 May 101161CIRCGEN121003527. Tarr Ingrid, Hesselson Stephanie, Iismaa Siiri E, Rath Emma, Monger Steven, Troup Michael, Mishra Ketan, Wong Claire M Y, Hsu Pei-Chen, Junday Keerat, Humphreys David T, Adlam David, Webb Tom R, Baranowska-Clarke Anna A, Hamby Stephen E, Carss Keren J, Samani Nilesh J, Bax Monique, McGrath-Cadell Lucy, Kovacic Jason C, Dunwoodie Sally L, Fatkin Diane, Muller David W M, Graham Robert M, Giannoulatou Ele |
Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients. Journal, genetic engineering & biotechnology 2022 3 20 (1): 44. Sharaf-Eldin Wessam E, Issa Mahmoud Y, Zaki Maha S, Kilany Ayman, Fayez Alaaeldin |
Polygenic Risk in Families With Spontaneous Coronary Artery Dissection. JAMA cardiology 2024 1 . Ingrid Tarr, Stephanie Hesselson, Michael Troup, Paul Young, Jamie-Lee Thompson, Lucy McGrath-Cadell, Diane Fatkin, Sally L Dunwoodie, David W M Muller, Siiri E Iismaa, Jason C Kovacic, Robert M Graham, Eleni Giannoulat |
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