Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 76 Records) |
Query Trace: Thalassemia and HBA2[original query] |
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Haemoglobin switching modulator SNPs rs5006884 is associated with increased HbA in ?-thalassaemia carriers. Archives of medical science : AMS 2021 8 17 (4): 1064-1074. Cyrus Cyril, Vatte Chittibabu, Chathoth Shahanas, Sayed Abdul Azeez, Borgio J Francis, Alrubaish Mohammed Abdullah, Alfalah Rawan, Alsaikhan Jana, Al Ali Amein |
A More Universal Approach to Comprehensive Analysis of Thalassemia Alleles (CATSA). The Journal of molecular diagnostics : JMD 2021 7 23 (9): 1195-1204. Liang Qiaowei, Gu Wanqian, Chen Ping, Li Yuezhen, Liu Yanqiu, Tian Mao, Zhou Qiaomiao, Qi Hongbo, Zhang Yuhong, He Jun, Li Qing, Tang Lingfang, Tang Juan, Teng Yanling, Zhou Yulin, Huang Shengwen, Lu Zongjie, Xu Mengnan, Hou Wei, Huang Ting, Li Youqiong, Li Rong, Hu Lanping, Li Shaoying, Guo Qiwei, Zhuo Zhaozhen, Mou Yan, Cram David S, Wu Lingqi |
Identification of Two Novel Thalassemia Variants, HBA1: c.263delA and HBA2: c.376dupC, in Chinese Individuals. Hemoglobin 2021 4 45 (1): 49-51. Liu Li, Sun Yan, Chen Shiping, Yu Churen, Cao Peijie, Sun Jun, Peng Zhiyu, Mao Pi |
Regulatory Mutation Study in Cases with Unsolved Hypochromic Microcytic Anemia and ?-Major Regulatory Element Haplotype Analysis in Iran. Hemoglobin 2021 3 45 (1): 37-40. Alimohammadi-Bidhendi Sara, Azadmehr Sarah, Razipour Masoumeh, Zeinali Sirous, Eslami Maryam, Davoudi-Dehaghani Elh |
[The value of combined detection of HbA2 and HbF for the screening of thalassemia among individuals of childbearing ages]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 12 39 (1): 16-20. Zhuang Qianmei, Wang Geng, Wang Yuanbai, Zhuang Jianlong, Jiang Yuying, Huang Hailong, Xu Liang |
Hemoglobinopathy gone astray-three novel forms of ?-thalassemia in Norwegian patients characterized by quantitative real-time PCR and DNA sequencing. Scandinavian journal of clinical and laboratory investigation 2021 11 81 (8): 670-678. Grimholt Runa M, Fjeld Bente, Klingenberg Ol |
Analysis of genotype-phenotype correlation in patients with ?-thalassemia from Fujian province, Southeastern China. Journal of clinical laboratory analysis 2022 9 36 (10): e24696. Pan Yali, Chen Meihuan, Zhang YanHong, Zhang Min, Chen Lingji, Lin Na, Xu Liangpu, Huang Hailo |
Combined Gap-Polymerase Chain Reaction and Targeted Next-Generation Sequencing Improve ?- and ?-Thalassemia Carrier Screening in Pregnant Women in Vietnam. Hemoglobin 2022 8 46 (4): 233-239. Lam Tuan-Thanh, Nguyen Doan-Tu, Le Quang Thanh, Nguyen Duy-Anh, Hoang Diem-Tuyet Thi, Nguyen Huu Du, Nguyen Canh Chuong, Doan Kim Phuong Thi, Tran Nhat-Thang, Ha Thi Minh Thi, Trinh Thu Huong Nhat, Nguyen Van Thong, Lam Duc Tam, Le Minh Tam, Nguyen Xuan Thao, Ho Thu-Hang Thi, Tran Trung Hoanh, Ho Viet Thang, Bui Thanh Van, Nguyen Van Trong, Hoang Phuoc Ba, Nguyen Hoai Thanh, Nguyen Manh Hoan, Vo Thanh-Binh, Le Duy-Khang Nguyen, Truong Thao Ngoc, Dao Hong-Thuy Thi, Vo Phuong-Anh Ngoc, Nguyen Thien-Chi Van, Tran Ngoc-Nhu Thi, Tran Quynh-Nhu Thi, Van Yen-Linh Thi, Nguyen Thanh-Thanh Thi, Huynh Bich-Ngoc Thi, Nguyen Thanh-Phuong Thi, Tran Kim-Van Thi, Nguyen Cong-Trai, Doan Phuoc-Loc, Nguyen Thanh-Dat, Do Thanh-Thuy Thi, Truong Dinh-Kiet, Tang Hung Sang, Cao Ngoc-Phuong Thi, Phan Minh-Duy, Giang Hoa, Nguyen Hoai-Ngh |
[Genotypic and hematological characteristics of 83 ?-thalassemia mutation carriers and patients from Henan Province]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 7 39 (7): 674-679. Wang Weilin, Zhao Xiaoming, Bai Songting, Wang Lu, Wang Chunmei, Yao Qianghua, Li Bai, Wang D |
Third-Generation Sequencing as a New Comprehensive Technology for Identifying Rare ?- and ?-Globin Gene Variants in Thalassemia Alleles in the Chinese Population. Archives of pathology & laboratory medicine 2022 5 147 (2): 208-214. Zhuang Jianlong, Chen Chunnuan, Fu Wanyu, Wang Yuanbai, Zhuang Qianmei, Lu Yulin, Xie Tiantian, Xu Ruofan, Zeng Shuhong, Jiang Yuying, Xie Yingjun, Wang Gaoxio |
Effects of Senegal haplotype (Xmn1-rs7412844), alpha-thalassemia (3.7kb HBA1/HBA2 deletion), NPRL3-rs11248850 and BCL11A-rs4671393 variants on sickle cell nephropathy. International journal of biochemistry and molecular biology 2022 5 13 (2): 5-16. Ndour El Hadji Malick, Mnika Khuthala, Guèye Tall Fatou, Seck Moussa, Dème Ly Indou, Nembaware Victoria, Sagna-Bassène Hélène Ange Thérèse, Dione Rokhaya, Ndongo Aliou Abdoulaye, Diop Jean Pascal Demba, Barry Nènè Oumou Kesso, Djité Moustapha, Ndiaye Diallo Rokhaya, Guèye Papa Madièye, Diop Saliou, Diagne Ibrahima, Cissé Aynina, Wonkam Ambroise, Lopez Sall Philomè |
Molecular prevalence of HBB-associated hemoglobinopathy among reproductive-age adults and the prenatal diagnosis in Jiangxi Province, southern central China. Frontiers in genetics 2022 10 13 992073. Luo Haiyan, Huang Ting, Lu Qing, Zhang Liuyang, Xu Yonghua, Yang Yan, Guo Zhen, Yuan Huizhen, Shen Yinqin, Huang Shuhui, Yang Bicheng, Zou Yongyi, Liu Yanq |
Detecting rare thalassemia in children with anemia using third-generation sequencing. Hematology (Amsterdam, Netherlands) 2023 8 28 (1): 2241226. Zhen-Min Ren, Wu-Jiao Li, Zhi-Hao Xing, Xiao-Ying Fu, Ju-Yan Zhang, Yun-Sheng Chen, De-Fa |
Mutational analysis of hemoglobin genes and functional characterization of detected variants, through in-silico analysis, in Pakistani beta-thalassemia major patients. Scientific reports 2023 8 13 (1): 13236. Samina Ejaz, Iqra Abdullah, Muhammad Usman, Muhammad Arslan Iqbal, Sidra Munawar, Muhammad Irfan Khan, Nagina Imtiaz, Hanniah Tahir, Muhammad Ihsan Bari, Tayyaba Rasool, Aneeza Fatima, Ramsha Anwar, Ayman Durrani, Yasir Hame |
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 |
Hematological and molecular characteristics of a novel ?-globin variant Hb Liangqing (HBA2:c.224A>G). Hematology (Amsterdam, Netherlands) 2023 5 28 (1): 2213545. Youqiong Li, Shulin Liang, Liang Liang, Lihong Zheng, Xiaocai |
The frequency of HK?? allele in silent deletional ?-thalassemia carriers in the Yulin region of southern China using the third-generation sequencing. Gene 2023 5 875 147505. Sisi Ning, Yunrong Qin, Yunning Liang, Yi Liang, Yuling Xie, Yinghong Lu, Guanghong Wei, Ruofan Xu, Yinyin Liu, Jihui |
Mutation spectrum of thalassemia among pre-pregnant adults in the Jiangsu Province by capillary electrophoresis-based multiplex PCR assay. Molecular genetics & genomic medicine 2023 12 e2344. Binbin Shao, Yuguo Wang, Jingjing Zhang, Yan Wang, Juan Tan, Lulu Wang, Ping Hu, Jianxin Tan, Zhengfeng |
Prevalence and Impact of HMOX1 Polymorphism (rs2071746: A?>?T) in Indian Sickle Cell Disease Patients. Journal of laboratory physicians 2023 10 15 (4): 583-589. Hareram Pandey, Kanwaljeet Singh, Ravi Ranjan, Jasmita Dass, Seema Tyagi, Tulika Seth, Renu Saxena, Manoranjan Mahapat |
HbA2 levels in children with ?-thalassemia trait associated with iron deficiency: A perspective for pediatricians. American journal of clinical pathology 2024 7 . ?eyda De?ermenci, Deniz Asl |
[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 |
A large cohort of Hb H disease in northeast Thailand: A molecular revisited, diverse genetic interactions and identification of a novel mutation. Clinica chimica acta; international journal of clinical chemistry 2024 6 561 119830. Kritsada Singha, Wanicha Tepakhan, Supawadee Yamsri, Attawut Chaibunruang, Hataichanok Srivorakun, Anupong Pansuwan, Goonnapa Fucharoen, Supan Fucharo |
[Analysis of rare mutations associated with Thalassemia and their hematological characteristics in Chenzhou region of Hunan Province]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 5 41 (6): 708-714. Caiyun Li, Jian Zhang, Yingli Cao, Haoqing Zhang, Dongqun Huang, Jufang Tan, Shuai Hou, Dongzhu L |
Molecular characterization of similar Hb Lepore Boston-Washington in four Chinese families using third generation sequencing. Scientific reports 2024 5 14 (1): 9966. Jianlong Zhuang, Na Zhang, Yu Zheng, Yuying Jiang, Yu'e Chen, Aiping Mao, Chunnuan Ch |
Screening for thalassemia carriers among the Han population of childbearing age in Southwestern of China. Frontiers in genetics 2024 4 15 1356068. Yepei Du, Cong Zhou, Jing Wang, Yanting Yang, Hui L |
Molecular epidemiology and hematological profiles of hemoglobin variants in southern Thailand. Scientific reports 2024 4 14 (1): 9255. Wanicha Tepakhan, Sataron Kanjanaopas, Korntip Sreworadechpisal, Tipparat Penglong, Pornpun Sripornsawan, Chaowanee Wangchauy, Chadaporn Nokkong, Chulalak Kongkan, Saristha Buatho |
[Study of the types of mutations of Thalassemia in Shanghai area]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 4 41 (4): 385-392. Yanying Gu, Beiying Wu, Yiyi Lu, Mingmin Gu, Jiafei L |
First clinical and pedigree study of rare HBB: c.316-90 A?>?G variant in ?-globin gene in Chinese population using third-generation sequencing. Annals of hematology 2024 12 . Jianlong Zhuang, Nan Huang, Yu Zheng, Na Zhang, Chunnuan Ch |
Clinical, laboratory, and molecular characteristics of a cohort of children with hemoglobinopathy S/beta-thalassemia. Hematology, transfusion and cell therapy 2024 1 . Érica Louback Oliveira, André Rolim Belisário, Natiely Pereira Silva, Paulo Val Rezende, Maristela Braga Muniz, Larissa Maira Moura Oliveira, Cibele Velloso-Rodrigues, Marcos Borato Via |
Enhancing Thalassemia Diagnosis: Advantages of Third-Generation Sequencing. Clinical laboratory 2025 1 71 (1): . Minjun Huang, Jiexiang Huang, Liumin Yu, Kun L |
- Page last reviewed:Feb 1, 2024
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