Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 33 Records) |
Query Trace: Thalassemia and HBA1[original query] |
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Two ?1-Globin Gene Point Mutations Causing Severe Hb H Disease. Hemoglobin 2017 11 41 (4-6): 293-296. Jiang Hua, Huang Lv-Yin, Zhen Li, Jiang Fan, Li Dong-Z |
Hemoglobin A (HbA) has a measure of unreliability in diagnosing ?-thalassemia trait (?-TT). Current medical research and opinion 2018 2 34 (5): 945-951. Al-Amodi Amani M, Ghanem Neda Z, Aldakeel Sumayh A, Ibrahim Al Asoom Lubna, Rafique Ahmed Nazish, Almandil Noor B, Naserullah Zaki A, Al-Jarrash Sana, Shakil Akhtar Mohammed, AbdulAzeez Sayed, Al-Ali Amein K, Borgio J Franc |
Increased Prevalence of Thalassemia in Young People in Korea: Impact of Increasing Immigration. Annals of laboratory medicine 2018 11 39 (2): 133-140. Lee Hyun Ji, Shin Kyung Hwa, Kim Hyung Hoi, Yang Eu Jeen, Park Kyung Hee, Kim Min Ju, Kwon Jeong Ran, Choi Young Sil, Kim Jun Nyun, Shin Myung Geun, Cho Yong Gon, Kim Sun Jun, Kim Kyeong Hee, Jeong Seri, Kong Seom Gim, Jung Yu Jin, Lee Nayoung, Kim Man Jin, Seong Moon W |
Analysis of Gene Mutation Types of ?- and ?-Thalassemia in Fuzhou, Fujian Province in China. Hemoglobin 2018 10 42 (3): 143-147. Xu Chengbo, Liao Bin, Qi Yan, Huangfu Zhenping, Chen Jiawei, Chen Yini |
KLF1 gene and borderline hemoglobin A in Saudi population. Archives of medical science : AMS 2018 1 14 (1): 230-236. Borgio J Francis, AbdulAzeez Sayed, Al-Muslami Ahmed M, Naserullah Zaki A, Al-Jarrash Sana, Al-Suliman Ahmed M, Al-Madan Mohammed S, Al-Ali Amein |
The Spectrum of ?-Thalassemia Mutations in the Lak Population of Iran. Hemoglobin 2019 7 43 (2): 107-111. Moradi Keivan, Aznab Mozaffar, Tahmasebi Susan, Dastafkan Zahra, Omidniakan Leila, Ahmadi Mahsa, Alibakhshi Re |
Krüppel-Like Factor 1 Gene Mutations in Thalassemia Patients from North Iran: Report of a New Mutation Associated with ?-Thalassemia Intermedia. Hemoglobin 2019 2 43 (1): 12-17. Tamaddoni Ahmad, Khabaz Astaneh Sahar, Tabaripour Reza, Akhavan-Niaki Hal |
Co-inheritance of alpha globin gene deletion lowering serum iron level in female beta thalassemia patients. Molecular biology reports 2019 11 47 (1): 603-606. AbdulAzeez Sayed, Almandil Noor B, Naserullah Zaki A, Al-Jarrash Sana, Al-Suliman Ahmed M, ElFakharay Huda I, Borgio J Franc |
Molecular Genetic Analysis of ?-Thalassemia in Hamadan Province, West Iran. Hemoglobin 2020 9 44 (5): 319-324. Moradi Keivan, Aznab Mozaffar, Biglari Mostafa, Shafieenia Samaneh, Azimi Azam, Bijari Nushin, Alibakhshi Re |
?-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 |
The Spectrum of ?-Thalassemia Mutations in Kurdistan Province, West Iran. Hemoglobin 2020 6 44 (3): 156-161. Alibakhshi Reza, Moradi Keivan, Aznab Mozaffar, Dastafkan Zahra, Tahmasebi Susan, Ahmadi Mahsa, Omidniakan Lei |
[Effect of high-throughput sequencing for the prevention and control of thalassemia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 5 37 (6): 645-649. Chen Yang, Zhang Shufang, Wang Chan, Chen Shiping, Feng Nyu, Liu Haifang, Tang Xiaoyan, Wang J |
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 |
Alpha thalassemia and alpha-MRE haplotypes in Uruguayan patients with microcytosis and hypochromia without anemia. Genetics and molecular biology 2021 44 (2): e20200399. Soler Ana María, Piellusch Bruna Facanali, Silveira Lorena da, Pedroso Gisele Audrei, López Pablo, Savio Enrique, Sonati María de Fatima, Luz Julio |
Molecular and Hematological Analysis of Alpha- and Beta-Thalassemia in a Cohort of Mexican Patients. Genetic testing and molecular biomarkers 2021 3 25 (3): 247-252. Rizo-de la Torre Lourdes Del Carmen, Rentería-López Víctor Manuel, Sánchez-López Josefina Yoaly, Magaña-Torres María Teresa, Ibarra-Cortés Bertha, Perea-Díaz Francisco Javi |
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 |
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 |
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 |
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 |
Causal links of ?-thalassemia indices and cardiometabolic traits and diabetes: MR study. Life science alliance 2023 10 6 (12): . Lung-An Hsu, Semon Wu, Ming-Sheng Teng, Yu-Lin |
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population. Genes 2023 10 14 (10): . Aziz Suat Gunsel, Mahmut Cerkez Ergoren, Hatice Kemal, Haniyeh Rahbar Kafshboran, Levent Cerit, Ayla Turgay, Hamza Duy |
[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 |
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 |
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 |
IGHG4: innovative diagnostic biomarkers for iron overload in ?-thalassemia patients. Hematology (Amsterdam, Netherlands) 2024 12 30 (1): 2433154. Yang Liu, Jinfang Huang, Jianming L |
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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