Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 252 Records) |
| Query Trace: HBB[original query] |
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| 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 |
| [Effects of Hemoglobin Variants on Glycosylated Hemoglobin Testing]. Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition 2023 10 54 (5): 1019-1023. Dan Ye, Yan Tang, Mei Zha |
| 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 |
| 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 |
| Influence of Hemoglobin Strasbourg, a Rare High Oxygen Affinity Hemoglobin Variant, on Different Methods of HbA1c Measurement. Hemoglobin 2024 8 1-3. Marcus Wagner, Birgit Stoffel-Wagner, Berndt Z |
| 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 |
| Integrative genomic analysis reveals cancer-associated mutations in patients with ophthalmic tumors. The Journal of international medical research 2024 7 52 (7): 3000605241258171. Fengjiao Zhu, Pengpeng Wang, Zhiyuan Zhang, Chunlei Yao, Yijie Wang, Juan Ye, Jian |
| 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 |
| Detection of Asymptomatic Sickle Cell Hemoglobin Carriers and Fetal Hemoglobin Regulating Genetic Variants in African Descendants from Oaxaca, Mexico. Anemia 2024 5 2024 4940760. María De Los Ángeles Romero-Tlalolini, Sergio Roberto Aguilar-Ruiz, Rafael Baltiérrez-Hoyos, Jaime Vargas-Arzola, Luis Alberto Hernández-Osorio, Verónica Rocío Vásquez-Garzón, Héctor Ulises Bernardino-Hernández, Honorio Torres-Aguil |
| Genetic association and transferability for urinary albumin-creatinine ratio as a marker of kidney disease in four Sub-Saharan African populations and non-continental individuals of African ancestry. Frontiers in genetics 2024 5 15 1372042. Jean-Tristan Brandenburg, Wenlong Carl Chen, Palwende Romuald Boua, Melanie A Govender, Godfred Agongo, Lisa K Micklesfield, Hermann Sorgho, Stephen Tollman, Gershim Asiki, Felistas Mashinya, Scott Hazelhurst, Andrew P Morris, June Fabian, Michèle Rams |
| 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 |
| Genetic Modifiers of Sickle Cell Anemia Phenotype in a Cohort of Angolan Children. Genes 2024 4 15 (4): . Catarina Ginete, Mariana Delgadinho, Brígida Santos, Armandina Miranda, Carina Silva, Paulo Guerreiro, Emile R Chimusa, Miguel Bri |
| 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 Association and Transferability for Urinary Albumin-Creatinine Ratio as a Marker of Kidney Function in four Sub-Saharan African Populations and non-continental Individuals of African Ancestry. medRxiv : the preprint server for health sciences 2024 1 . Jean-Tristan Brandenburg, Wenlong Carl Chen, Palwende Romuald Boua, Melanie Ann Govender, Godfred Agongo, Lisa K Micklesfield, Hermann Sorgho, Stephen Tollman, Gershim Asiki, Felistas Mashinya, Scott Hazelhurst, Andrew P Morris, June Fabian, Michèle Ramsay, |
| 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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