Human Genome Epidemiology Literature Finder
Rare Diseases
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Records 1 - 30 (of 86 Records) |
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| A novel algorithm comprehensively characterizes human RH genes using whole-genome sequencing data. Blood advances 2020 9 4 (18): 4347-4357. Chang Ti-Cheng, Haupfear Kelly M, Yu Jing, Rampersaud Evadnie, Sheehan Vivien A, Flanagan Jonathan M, Hankins Jane S, Weiss Mitchell J, Wu Gang, Vege Sunitha, Westhoff Connie M, Chou Stella T, Zheng Y |
| Whole genome sequencing identifies genetic variants associated with co-trimoxazole hypersensitivity in Asians. The Journal of allergy and clinical immunology 2020 8 147 (4): 1402-1412. Wang Chuang-Wei, Tassaneeyakul Wichittra, Chen Chun-Bing, Chen Wei-Ti, Teng Yu-Chuan, Huang Cheng-Yang, Sukasem Chonlaphat, Lu Chun-Wei, Lee Yun-Shien, Choon Siew-Eng, Nakkam Nontaya, Hui Rosaline Chung-Yee, Huang Yen-Hua, Chang Ya-Ching, Lin Yang Yu-Wei, Chang Chee-Jen, Chiu Tsu-Man, Chantratita Wasun, Konyoung Parinya, Lee Chaw-Ning, Klaewsongkram Jettanong, Rerkpattanapipat Ticha, Amornpinyo Warayuwadee, Saksit Niwat, Rerknimitr Pawinee, Huang Yu Huei, Lin Shang-Hung, Hsu Chao-Kai, Chan Cheng-Chi, Lin Yu-Jr, Hung Shuen-Iu, Chung Wen-Hung, |
| Systematic profiling of alternative splicing in Helicobacter pylori-negative gastric cancer and their clinical significance. Cancer cell international 2020 7 20 279. Liu Chuan, Hu Chuan, Li Zhi, Feng Jing, Huang Jiale, Yang Bowen, Wen |
| ?-Thalassemia Intermedia Results from Interactions of Unstable Hb Prato [?31(B12)Arg?Ser (HBA1 or HBA2 c.96G>T or C)] with the ?-Thalassemia-1 [- - (Southeast Asian)] Deletion in Thailand. Hemoglobin 2020 7 44 (4): 264-271. Panyasai Sitthichai, Phasit Amph |
| Gene Mutation Spectrum of Thalassemia Among Children in Yunnan Province. Frontiers in pediatrics 2020 5 8 159. Huang Ti-Long, Zhang Tian-Yao, Song Chun-Yan, Lin Yun-Bi, Sang Bao-Hua, Lei Qing-Ling, Lv Yu, Yang Chun-Hui, Li Na, Tian Xin, Yang Yue-Huang, Zhang Xian-W |
| Incidence of biomarkers in high-grade gliomas and their impact on survival in a diverse SouthEast Asian cohort - a population-based study. BMC cancer 2020 2 20 (1): 79. Ang Samantha Ya Lyn, Lee Lester, See Angela An Qi, Ang Ting Yao, Ang Beng Ti, King Nicolas Kon K |
| Next-generation sequencing-guided molecular-targeted therapy and immunotherapy for biliary tract cancers. Cancer immunology, immunotherapy : CII 2020 Oct . Zhang Wei, Shi Junping, Wang Yingying, Zhou Hongyuan, Zhang Zewu, Han Zhiqiang, Li Guanghao, Yang Bo, Cao Guangtai, Ke Yan, Zhang Ti, Song Tianqiang, QiangL |
| Dual therapy with dolutegravir plus boosted protease inhibitor as maintenance or salvage therapy in highly experienced people living with HIV. International journal of antimicrobial agents 2021 7 58 (3): 106403. Lee Yu-Lin, Lin Kuan-Yin, Cheng Shu-Hsing, Lu Po-Liang, Wang Ning-Chi, Ho Mao-Wang, Yang Chia-Jui, Liou Bo-Huang, Tang Hung-Jen, Huang Shie-Shian, Huang Sung-Hsi, Chen Tun-Chieh, Lin Chi-Ying, Lin Shih-Ping, Lee Yuan-Ti, Hung Chien-Ching, |
| A polygenic score for acute vaso-occlusive pain in pediatric sickle cell disease. Blood advances 2021 07 5 (14): 2839-2851. Rampersaud Evadnie, Kang Guolian, Palmer Lance E, Rashkin Sara R, Wang Shuoguo, Bi Wenjian, Alberts Nicole M, Anghelescu Doralina, Barton Martha, Birch Kirby, Boulos Nidal, Brandow Amanda M, Brooke Russell John, Chang Ti-Cheng, Chen Wenan, Cheng Yong, Ding Juan, Easton John, Hodges Jason R, Kanne Celeste K, Levy Shawn, Mulder Heather, Patel Ashwin P, Puri Latika, Rosencrance Celeste, Rusch Michael, Sapkota Yadav, Sioson Edgar, Sharma Akshay, Tang Xing, Thrasher Andrew, Wang Winfred, Yao Yu, Yasui Yutaka, Yergeau Donald, Hankins Jane S, Sheehan Vivien A, Downing James R, Estepp Jeremie H, Zhang Jinghui, DeBaun Michael, Wu Gang, Weiss Mitchell |
| Whole-exome sequencing identifies somatic mutations associated with lung cancer metastasis to the brain. Annals of translational medicine 2021 5 9 (8): 694. Liu Zhenghao, Zheng Meiguang, Lei Bingxi, Zhou Zhiwei, Huang Yutao, Li Wenpeng, Chen Qinbiao, Li Pengcheng, Deng Yuef |
| Role of Interleukin-10 Promoter Polymorphisms in Oral Cancer Susceptibility: A Meta-Analysis. Cancer investigation 2021 Apr 1-11. Liu Ru-Yue, Li Lin, Wu Ting, Zhang Zhong- |
| Pitfalls in the Diagnosis of ?-Thalassemia Intermedia. Hemoglobin 2021 10 45 (4): 265-268. Perera Shiromi, Allen Angela, Rees David C, Premawardhena Anu |
| Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA. Journal of the American Society of Nephrology : JASN 2021 10 33 (2): 305-325. Viering Daan, Schlingmann Karl P, Hureaux Marguerite, Nijenhuis Tom, Mallett Andrew, Chan Melanie M Y, van Beek André, van Eerde Albertien M, Coulibaly Jean-Marie, Vallet Marion, Decramer Stéphane, Pelletier Solenne, Klaus Günter, Kömhoff Martin, Beetz Rolf, Patel Chirag, Shenoy Mohan, Steenbergen Eric J, Anderson Glenn, Bongers Ernie M H F, Bergmann Carsten, Panneman Daan, Rodenburg Richard J, Kleta Robert, Houillier Pascal, Konrad Martin, Vargas-Poussou Rosa, Knoers Nine V A M, Bockenhauer Detlef, de Baaij Jeroen H F, |
| [Application of DNA Microarray in Genetic Mutation Detection in Patients with Thalassemia]. Zhongguo shi yan xue ye xue za zhi 2021 10 29 (5): 1561-1565. Qin Liu-Qun, Yan Ti-Zhen, Luo Shi-Qiang, Cai Peng-Fei, Chen Li-Zhu, Zhong Qing-Yan, Wang Jing-Ren, Wang Qiu-Hua, Yuan De-Jian, Huang J |
| Signature based on RNA-binding protein-related genes for predicting prognosis and guiding therapy in non-small cell lung cancer. Frontiers in genetics 2022 9 13 930826. Miao Ti-Wei, Chen Fang-Ying, Du Long-Yi, Xiao Wei, Fu Juan-Ju |
| ?-Thalassemia Intermedia Caused by the ?-Globin Gene 3' Untranslated Region: Another Case Report. Hemoglobin 2022 8 46 (2): 137-139. Jiang Fan, Chen Gui-Lan, Li Jian, Tang Xue-Wei, Li Dong-Z |
| Spectrum of ?-Thalassemia Mutations in Some Areas of Guangxi Zhuang Autonomous Region of Southern China: A Study on a Pediatric Population Aged 0-15 Years. Hemoglobin 2022 5 45 (5): 318-321. Huang Li-Fang, Yu Li-Li, Nikuze Lauriane, Singh Sanjeev, Jiang Jin-Xia, Jiang Jia-Li, Li Yu-Ping, Qin Yu-Hui, Wei Hong-Yi |
| ?-Thalassemia Intermedia: Interaction of ?-Globin Gene Triplication With ?-thalassemia Heterozygous in Spain. Frontiers in medicine 2022 4 9 866396. Ropero Paloma, González Fernández Fernando Ataúlfo, Nieto Jorge M, Torres-Jiménez Williana Melissa, Benavente Celi |
| Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population. Scientific reports 2022 4 12 (1): 5429. Foo Claribel Tian Yu, To Yi Hui, Irwanto Astrid, Ng Alvin Yu-Jin, Yan Benedict, Chew Sophia Tsong Huey, Liu Jianjun, Ti Lian K |
| Screening for Mitochondrial tRNA Mutations in 318 Patients with Dilated Cardiomyopathy. Human heredity 2022 1 . Qi Yujuan, Wu Zhenhua, Bai Yaobang, Jiao Yan, Li Peij |
| Clinical significance of mutational variants in beta and alpha genes in patients with hemoglobinopathies from two large Greek centers: a complex interplay between genotype and phenotype. Journal of molecular medicine (Berlin, Germany) 2023 7 . Michael D Diamantidis, Rebecca-Anastasia Karanikola, Chrysoula Polyzoudi, Sophia Delicou, Achilles Manafas, Helen Savera, Aikaterini Xydaki, Angeliki Kotsiafti, Evangelos Tsangalas, Georgia Ikonomou, Eirini Mani, Konstantinos Ntoulas, Evangelos Alexiou, Ioanna Argyrakouli, John Koskinas, Paraskevi Foti |
| Polygenic Risk Score Predicts Modified Risk in BRCA1 Pathogenic Variant c.4035del and c.5266dup Carriers in Breast Cancer Patients. Cancers 2023 6 15 (11): . Egija Berga-Šv?ti?a, Je?ena Maksimenko, Edv?ns Miklaševi?s, Krista Fischer, Baiba Vilne, Reedik Mä |
| Landscape of gene mutation in Chinese thyroid cancer patients: Construction and validation of lymph node metastasis prediction model based on clinical features and gene mutation marker. Cancer medicine 2023 4 . Meng Wei, Rui Wang, Wanxue Zhang, Jing Zhang, Qiang Fang, Zheng Fang, Bin Liu, Yongxiang |
| Assessing the association between the circulating levels of inflammatory cytokines and the risk of tuberculosis: A bidirectional two-sample mendelian randomization study. Infection, genetics and evolution : journal of molecular epidemiology and evolutionary genetics in infectious diseases 2023 11 105524. Shun-Xian Zhang, Zhen-Hui Lu, Mei-Ti Wang, Yu-Ping Shen, Duan Lei, Shi-Yang Guan, Mu-Xin Chen, Yan Lu, Ming Yang, Lei Wang, Guo-Bing Yang, Wen-Wen Lv, Ji-Chun Wang, Jin-Xin Zhe |
| Modified TI-RADS Coupled with BRAFV600E Enhances Diagnostic Efficiency in Papillary Thyroid Carcinoma: Prospective Study. International journal of general medicine 2024 7 17 3015-3025. Jing Wang, Hong Cheng, Xu |
| [Molecular Diagnosis and Pedigree Analysis of Rare Mutations in Non-coding Region of HBA2 Gene]. Zhongguo shi yan xue ye xue za zhi 2024 6 32 (3): 940-944. Li-Zhu Chen, Ti-Zhen Yan, Jun Huang, Qing-Yan Zhong, Xue Qin, Ning Tang, Shi-Qiang L |
| Human Leukocyte Antigens and Sulfamethoxazole/Cotrimoxazole-Induced Severe Cutaneous Adverse Reactions: A Systematic Review and Meta-Analysis. JAMA dermatology 2024 4 . Po-Chien Wu, Wei-Ti Chen, I-Hsin Huang, Chun-Bing Chen, Chuang-Wei Wang, Cheng-Chen Tai, Wen-Hung Chung, Ching-Chi C |
| The causal associations of circulating lipids with Barrett's Esophagus and Esophageal Cancer: a bi-directional, two sample mendelian randomization analysis. Human genomics 2024 4 18 (1): 37. Baofeng Li, Meng Li, Xiao Qi, Ti Tong, Guangxin Zha |
| Class I HLA Alleles are associated with an increased risk of osimertinib-induced hypersensitivity. The journal of allergy and clinical immunology. In practice 2024 11 . Chun-Bing Chen, Chuang-Wei Wang, Chun-Wei Lu, Wei-Ti Chen, Bing-Rong Zhou, Chia-Yu Chu, Shang-Fu Hsu, Cheng-Ta Yang, John Wen-Cheng Chang, Chan-Keng Yang, Chih-Liang Wang, Yueh-Fu Fang, Ping-Chih Hsu, Chung-Ching Hua, Chiao-En Wu, How-Wen Ko, Kun-Chieh Chen, Yi-Chien Yang, Han-Chi Tseng, An-Yu Cheng, Li-Chuan Tseng, Feng-Ya Shih, Shuen-Iu Hung, Cheng-Yang Huang, Wen-Hung Chu |
| Association of methylenetetrahydrofolate reductase gene variant C677T and folate levels in non-syndromic cleft lip/palate among Sindhi, Pakistani population. JPMA. The Journal of the Pakistan Medical Association 2024 1 74 (1): 145-148. Sadia Effendi, Samreen Memon, Feriha Fatima Khidri, Ali Muhammad Wary |
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