Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 150 Records) |
| Query Trace: Thalassemia and Hbb[original query] |
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| 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 |
| The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran. Hemoglobin 2023 8 1-5. Niloofar Bazazzadegan, Seyedeh Sedigheh Abedini, Azita Azarkeivan, Susan Banihashemi, Nooshin Nikzat, Hossein Najmabadi, Maryam Neishabu |
| 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 |
| A Rare Case of Abnormal Hemoglobin Variant Hb Mizuho: [HBB: c.206T?>?C ? 68(E12) Leu-Pro]: A First Report in the Chinese Population. Hemoglobin 2023 7 1-5. Ya-Ping Chen, Peng Wu, Heng Wang, Jiang-Fen Wu, Dan Xie, Lei Wang, Bangquan An, Shengwen Hua |
| Mutation Spectrum of ?-Thalassemia in Some Ethnic Groups of North Maharashtra, India. Hemoglobin 2023 6 1-6. Ranjeet Kumar, Syed Abrar Ahmad, Mustafa Ozdemir, Sakthivel Sadayappan, Varsha Wankha |
| Two novel deletion mutations in ?-globin gene cause ?-thalassemia trait in two Chinese families. Human genomics 2023 12 17 (1): 111. Xiuqin Bao, Danqing Qin, Jicheng Wang, Jing Chen, Cuize Yao, Jie Liang, Kailing Liang, Yixia Wang, Yousheng Wang, Li Du, Aihua Y |
| 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 |
| 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 |
| Reliability of hemoglobin A value as measured by the Premier Resolution system for screening of ?-thalassemia carriers. Clinical chemistry and laboratory medicine 2023 10 . Surada Satthakarn, Kesorn Panyasai, Amphai Phasit, Sitthichai Panyas |
| First report of a patient with homozygous hemoglobin Ernz: Evidence to support a non-pathogenic variant. Blood cells, molecules & diseases 2023 10 104 102797. Zohreh Shojaei, Maryam Abiri, Fatemeh Zafarghandi Motlagh, Masoume Amini, Samira Dabbagh Bagheri, Sadaf Asnavandi, Sedighe Asadi, Hamideh Bagherian, Sirous Zeina |
| Prediction the Occurrence of Thalassemia With Hematological Phenotype by Diagnosis of Abnormal HbA1c. Journal of clinical laboratory analysis 2024 9 e25104. Yafang Wan, Yu Zhang, Tian Li, Shuyue Chen, Changchun N |
| SNPscan Combined With CNVplex as a High-Performance Diagnostic Method for Thalassemia. Prenatal diagnosis 2024 9 . Xiaofeng Wei, Xingmin Wang, Fu Xiong, Xinhua Zhang, Dun Liu, Wanjun Zhou, Fei He, Xuan Sha |
| Mutation Analysis of Exon 1 in the Hemoglobin Subunit Beta (HBB) Gene in Beta-Thalassemia. Cureus 2024 8 16 (7): e65198. K Sharath Kumar, Mallanagouda M Patil, Rudragouda Bulagouda, Gurushantappa S Kadak |
| Genetic Correlation of HBB, HFE and HAMP Genes to Endocrinal Complications in Egyptian Beta Thalassemia Major Patients. Biochemical genetics 2024 7 . Mona F Sokkar, Mona Hamdy, Mohamed B Taher, Heba El-Sayed, Eman Abdelmotaleb Bayomi, Khalda S Amr, Ghada Y El-Kam |
| 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 |
| 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 |
| Screening and Diagnosis of Rare Thalassemia Variants. Archives of pathology & laboratory medicine 2024 4 . Haishen Tang, Yi Xiong, Jiaqi Tang, Xiaohong Wang, Ya Wang, Liping Huang, Runli Wang, Degang Wa |
| [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 |
| Newborn Screening for ?-Thalassemia Identifies a Complex Genotype Involving a Novel ?-Globin Gene Mutation (HBB:c.336dup). Hemoglobin 2024 4 1-3. John S Waye, Meredith Hanna, Betty-Ann Hohenadel, Lisa Nakamura, Lynda Walker, Barry Eng, Landry E Nfons |
| 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 |
| Molecular Characterization of ?? Thalassemia/Hereditary Persistence of Fetal Hemoglobin and Its Correlation With Clinical and Hematological Profile; a Single Center Study in North India. International journal of laboratory hematology 2024 12 . R Gupta, A Shah, K Gupta, D Chandra, A Sharma, K Rahman, M K Singh, S Yadav, R Kashy |
| The Validation of Whole ?-Globin Gene Sequencing for Detecting ?-Thalassemia Mutations Found in Thailand Using Next-Generation Sequencing (NGS). Hemoglobin 2024 11 1-8. Rossarin Karnpean, Wanicha Tepakhan, Kittiphoom Rungruang, Parida Pongpatchara, Panai Kuttasirisuk, Pitchayut Asawarat, Wittaya Jomo |
| Characterization of a novel 8.2 kb deletion causing beta-thalassemia. Clinical biochemistry 2024 10 133-134 110832. Ge Wang, Haoyang Huang, Li Chen, Qizhi Xiao, Wei Zhang, Qianqian Zha |
| Distinct Distribution of HBB Variants in Two Cohorts of Beta Thalassemia Patients, and a Novel Variant from Turkey. Molecular syndromology 2024 10 15 (5): 362-370. Hatice Kocak Eker, Ozgur Balas |
| First Report of Filipino ?-Thalassemia/?-Thalassemia in a Chinese Family. Hemoglobin 2024 1 1-5. Meihuan Chen, Aixiang Lv, Siwen Zhang, Junhao Zheng, Min Zhang, Lingji Chen, Qianqian He, Jianlong Zhuang, Na Lin, Liangpu Xu, Hailong Hua |
| 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 |
| Genetic epidemiology of thalassemia in couples of childbearing age: over 6 years of a thalassemia intervention project. Molecular biology reports 2024 1 51 (1): 138. Xiujie Zheng, Yantao Bao, Qunyan Wu, Fang Yao, Jindi Su, Yuankai Yang, Zhiqiang Liu, Shan Du |
| A next-generation sequencing-based universal target panel and algorithm for one-stop detection of copy number alterations and single-nucleotide variations in the HBB gene cluster for rapid diagnosis of ?-thalassemia. Molecular biology reports 2025 1 52 (1): 128. Debashis Pal, Prosanto Kumar Chowdhury, Kaustav Nayek, Nidhan K Biswas, Subrata Das, Anupam Ba |
| 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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