Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 244 Records) |
Query Trace: HBB[original query] |
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Exploring the host factors affecting asymptomatic Plasmodium falciparum infection: insights from a rural Burkina Faso study. Malaria journal 2023 9 22 (1): 252. Peter J Neyer, Bérenger Kaboré, Christos T Nakas, Britta Hartmann, Annelies Post, Salou Diallo, Halidou Tinto, Angelika Hammerer-Lercher, Carlo R Largiadèr, Andre J van der Ven, Andreas R Hub |
Molecular Detection of Hemoglobin O-Arab in the Sudanese Population. International journal of general medicine 2023 8 16 3323-3330. Izzeldin Elbashir, Tagwa Yousif Elsayed Yous |
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 |
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 |
Whole Exome Sequencing Reveals Novel Variants in Unexplained Erythrocytosis. Omics : a journal of integrative biology 2023 7 . Harshit Khurana, Babylakshmi Muthusamy, Uday Yanamandra, Kishore Garapati, Harikrishnan Premdeep, Shankar Subramanian, Akhilesh Pand |
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 |
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 |
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 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 |
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