Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 32 Records) |
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Genetic variation in cannabinoid receptor 1 (CNR1) is associated with derangements in lipid homeostasis, independent of body mass index. Pharmacogenomics 2008 Nov 9 (11): 1647-56. Baye Tes M, Zhang Yi, Smith Edward, Hillard Cecilia J, Gunnell Jennifer, Myklebust Joel, James Roland, Kissebah Ahmed H, Olivier Michael, Wilke Russell |
Factor V Leiden mutation and thromboembolism risk in women receiving adjuvant tamoxifen for breast cancer. Journal of the National Cancer Institute 2010 Jul 102 (13): 942-9. Garber Judy E, Halabi Susan, Tolaney Sara M, Kaplan Ellen, Archer Laura, Atkins James N, Edge Stephen, Shapiro Charles L, Dressler Lynn, Paskett Electra D, Paskett Electra M, Kimmick Gretchen, Orcutt James, Scalzo Anthony, Winer Eric, Levine Ellis, Shahab Nasir, Berliner Nancy, |
Transforming growth factor ß 869C/T and interleukin 6 -174G/C polymorphisms relate to the severity and progression of bone-erosive damage detected by ultrasound in rheumatoid arthritis. Arthritis research & therapy 2011 13 (4): R111. Ceccarelli Fulvia, Perricone Carlo, Fabris Martina, Alessandri Cristiano, Iagnocco Annamaria, Fabro Cinzia, Pontarini Elena, De Vita Salvatore, Valesini Gui |
Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing. Genetics in medicine : official journal of the American College of Medical Genetics 2015 Sep . Bae Jun-Seok, Kim Nayoung K D, Lee Chung, Kim Sang Cheol, Lee Hey Ran, Song Hae-Ryong, Park Kun Bo, Kim Hyun Woo, Lee Soon Hyuck, Kim Ha Yong, Lee Soon Chul, Jeong Changhoon, Park Moon Seok, Yoo Won Joon, Chung Chin Youb, Choi In Ho, Kim Ok-Hwa, Park Woong-Yang, Cho Tae-Jo |
Identification of a novel truncation mutation of EYA4 in moderate degree hearing loss by targeted exome sequencing. European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2015 May . Choi Hyun Seok, Kim Ah Reum, Kim Shin Hye, Choi Byung Yo |
Relationship between serum GAD-Ab and the genetic polymorphisms of GAD2 and type 2 diabetes mellitus. Genetics and molecular research : GMR 2015 14 (2): 3002-9. Li Q, Qiao Z R, Liu D B, Zeng J T, Zhang J, Bo Y, Zu H Y, Hu Q, Wu X, Dong S |
Unraveling of Enigmatic Hearing-Impaired GJB2 Single Heterozygotes by Massive Parallel Sequencing: DFNB1 or Not? Medicine 2016 Apr 95 (14): e3029. Kim So Young, Kim Ah Reum, Kim Nayoung K D, Lee Chung, Kim Min Young, Jeon Eun-Hee, Park Woong-Yang, Choi Byung Yo |
Trace element concentrations, risks and their correlation with metallothionein genes polymorphism: A case study of narrow-ridged finless porpoises (Neophocaena asiaeorientalis) in the East China Sea. The Science of the total environment 2016 Sep . Liu Jun, Chen Bingyao, Jefferson Thomas Allen, Wang Hui, Yang Gua |
The association between the nicotinic acetylcholine receptor ?4 subunit gene (CHRNA4) rs1044396 and Internet gaming disorder in Korean male adults. PloS one 2017 12 (12): e0188358. Jeong Jo-Eun, Rhee Je-Keun, Kim Tae-Min, Kwak Su-Min, Bang Sol-Hee, Cho Hyun, Cheon Young-Hoon, Min Jung Ah, Yoo Gil Sang, Kim Kyudong, Choi Jung-Seok, Choi Sam-Wook, Kim Dai-J |
Two Chinese nephronophthisis pedigrees harbored a compound heterozygous deletion with a point mutation in NPHP1. International journal of molecular epidemiology and genetics 2019 9 10 (4): 53-58. Chen Huamu, Lin Hongrong, Yue Zhihui, Wang Haiyan, Yang Junhui, Sun Liangzho |
Transposable Elements Are Important Contributors to Standing Variation in Gene Expression in Capsella Grandiflora. Molecular biology and evolution 2019 4 36 (8): 1734-1745. Uzunovi? Jasmina, Josephs Emily B, Stinchcombe John R, Wright Stephen |
Mutation spectrum and genotype-phenotype correlation of inherited retinal dystrophy in Taiwan. Clinical & experimental ophthalmology 2019 Dec . Chen Zhen-Ji, Lin Keng-Hung, Lee Shi-Huang, Shen Ren-Juan, Feng Zhuo-Kun, Wang Xiao-Fang, Huang Xiu-Feng, Huang Zhi-Qin, Jin Zi-Bi |
The impact of transposable elements on tomato diversity. Nature communications 2020 8 11 (1): 4058. Domínguez Marisol, Dugas Elise, Benchouaia Médine, Leduque Basile, Jiménez-Gómez José M, Colot Vincent, Quadrana Leand |
Trace elements and APOE polymorphisms in pregnant women and their new-borns. Environment international 2020 Jul 143 105626. Trdin Ajda, Snoj Tratnik Janja, Stajnko Anja, Marc Janja, Mazej Darja, Sešek Briški Alenka, Kastelec Damijana, Prpi? Igor, Petrovi? Oleg, Špiri? Zdravko, Horvat Milena, Falnoga Ingr |
Detection of somatic TP53 mutation in surgically resected small-cell lung cancer by targeted exome sequencing: association with longer relapse-free survival. Heliyon 2020 Jul 6 (7): e04439. Yokouchi Hiroshi, Nishihara Hiroshi, Harada Toshiyuki, Yamazaki Shigeo, Kikuchi Hajime, Oizumi Satoshi, Uramoto Hidetaka, Tanaka Fumihiro, Harada Masao, Akie Kenji, Sugaya Fumiko, Fujita Yuka, Takamura Kei, Kojima Tetsuya, Higuchi Mitsunori, Honjo Osamu, Minami Yoshinori, Watanabe Naomi, Nishimura Masaharu, Suzuki Hiroyuki, Dosaka-Akita Hirotoshi, Isobe Hiros |
Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract. Journal of clinical medicine 2020 3 9 (3): . Ahn Yo Han, Lee Chung, Kim Nayoung K D, Park Eujin, Kang Hee Gyung, Ha Il-Soo, Park Woong-Yang, Cheong Hae |
Artemether-Lumefantrine Efficacy for the Treatment of Uncomplicated Plasmodium falciparum Malaria in Choco, Colombia after 8 Years as First-Line Treatment. The American journal of tropical medicine and hygiene 2020 2 102 (5): 1056-1063. Olivera Mario J, Guerra Angela Patricia, Cortes Liliana Jazmin, Horth Roberta Z, Padilla Julio, Novoa Jonathan, Ade María de la Paz, Ljolje Dragan, Lucchi Naomi W, Marquiño Wilmer, Renteria Martha, Yurgaky Wilman, Macedo de Oliveira Alexand |
Variants of Focal Adhesion Scaffold Genes Cause Thoracic Aortic Aneurysm. Circulation research 2020 10 128 (1): 8-23. Li Yang, Gao Shijuan, Han Yingchun, Song Li, Kong Yu, Jiao Yao, Huang Shan, Du Jie, Li Yul |
Colour discrimination among patients with schizophrenia in Lebanon. International journal of psychiatry in clinical practice 2020 1 24 (2): 193-200. Dahdouh Oussama, Haddad Chadia, Hany Zeina, Azar Georges, Lahoud Corinne, Hallit Souheil, Hachem Do |
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways. European journal of medical genetics 2021 8 64 (10): 104311. Guan Jing, Li Jin, Chen Guohui, Shi Tao, Lan Lan, Wu Xiaonan, Zhao Cui, Wang Dayong, Wang Hongyang, Wang Qiu |
Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature. Orphanet journal of rare diseases 2021 7 16 (1): 297. Kamil Gilyazetdinov, Yoon Ju Young, Yoo Sukdong, Cheon Chong K |
Driver Genes Associated With the Incidence of Venous Thromboembolism in Patients With Non-Small-Cell Lung Cancer: A Systematic Review and Meta-Analysis. Frontiers in oncology 2021 5 11 680191. Qian Xiaohan, Fu Mengjiao, Zheng Jing, Zhou Jianya, Zhou Jianyi |
Exome sequencing link mutation in RGPD4 with systemic sclerosis-associated interstitial lung disease and the low level of testosterone-an exploration study. Frontiers in oncology 2022 9 12 956552. Wang Na, Zhang Qian, Sun Wei, Yang Xiaoyu, Huang Hui, Xu Zuoj |
Common genetic driver mutation in NSCLC and their association with thromboembolic events: A retrospective study. Lung cancer (Amsterdam, Netherlands) 2022 10 172 29-34. Lin Miaozhen, Lu Yujuan, Yu Qiwen, Chen Zebin, Peng Jiayu, Cai Xiu |
Risk of thromboembolism in non-small-cell lung cancers patients with different oncogenic drivers, including ROS1, ALK, and EGFR mutations. ESMO open 2022 Dec 7 (6): 100742. Wang H-Y, Wu S-G, Lin Y-T, Chen C-Y, Shih J |
Transposable elements maintain genome-wide heterozygosity in inbred populations. Nature communications 2022 11 13 (1): 7022. De Kort Hanne, Legrand Sylvain, Honnay Olivier, Buckley Jam |
The insertion and dysregulation of transposable elements in osteosarcoma and their association with patient event-free survival. Scientific reports 2022 1 12 (1): 377. Wang Chao, Liang Ch |
The Contributions of Trace Elements on Molecular Subtype-Specific Colorectal Cancer. Journal of Cancer 2023 6 14 (9): 1486-1498. Dong-Xiao Bai, Jian-An Xiao, Tian-Chen Huang, Zhi-Ling Shen, Lei Li, Fei-Fei Ding, Ming Wen, Shou-Xin Wu, Xiao-Chen Liu, Hui-Hui Jia |
Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers. Journal of human genetics 2023 10 . Aya Yamazaki, Tomoko Kuroda, Nami Kawasaki, Keiichi Kato, Keiko Shimojima Yamamoto, Takeshi Iwasa, Akira Kuwahara, Yuka Taniguchi, Toshiyuki Takeshita, Yosuke Kita, Mikio Mikami, Minoru Irahara, Toshiyuki Yamamo |
ALAD and APOE polymorphisms are associated with lead and mercury levels in Italian pregnant women and their newborns with adequate nutritional status of zinc and selenium. Environmental research 2023 1 220 115226. Palir Neža, Stajnko Anja, Snoj Tratnik Janja, Mazej Darja, Briški Alenka Sešek, France-Štiglic Alenka, Rosolen Valentina, Mariuz Marika, Giordani Elisa, Barbone Fabio, Horvat Milena, Falnoga Ingr |
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