Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 134 Records) |
Query Trace: Thalassemia and HBB[original query] |
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Epidemiological and molecular study of hemoglobinopathies in Mauritanian patients. Molecular genetics & genomic medicine 2022 9 10 (10): e2048. Mahmoud Taher, Sahli Chaima, Hadj Fredj Sondess, Amri Yessine, Othmani Rim, Mohamed Ghaber S, Zein Ekhtelbenina, Messaoud Tai |
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 |
?-Thalassemia Intermedia Caused by the ?-Globin Gene 3' Untranslated Region: Another Case Report. Hemoglobin 2022 8 46 (2): 137-139. Jiang Fan, Chen Gui-Lan, Li Jian, Tang Xue-Wei, Li Dong-Z |
Clinical Severity of ?-Thalassemia Pediatric Patients in Myanmar. Hemoglobin 2022 8 46 (1): 66-70. Khaing Aye Aye, Myint Phyu Phyu, Paiboonsukwong Kittiphong, Win Ne, Fucharoen Suthat, Sripichai Orap |
Thalassemia in Malaysia. Hemoglobin 2022 8 46 (1): 45-52. Alwi Zilfalil Bin, Syed-Hassan Sharifah-Nany Rahayu-Karmil |
Analysis of Common Beta-Thalassemia (?-Thalassemia) Mutations in East Java, Indonesia. Frontiers in pediatrics 2022 10 925599. Hernaningsih Yetti, Syafitri Yuli, Indrasari Yulia Nadar, Rahmawan Prafa Alif, Andarsini Mia Ratwita, Lesmana Indra, Moses Emmanuel Jairaj, Abdul Rahim Nur Arzuar, Yusoff Narazah Mo |
[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 |
Spectrum of ?-Thalassemia Mutations in Some Areas of Guangxi Zhuang Autonomous Region of Southern China: A Study on a Pediatric Population Aged 0-15 Years. Hemoglobin 2022 5 45 (5): 318-321. Huang Li-Fang, Yu Li-Li, Nikuze Lauriane, Singh Sanjeev, Jiang Jin-Xia, Jiang Jia-Li, Li Yu-Ping, Qin Yu-Hui, Wei Hong-Yi |
The Clinical Significance of the Spectrum of Interactions of the Rare IVS-II-5 G>C (HBB: c.315+5 G>C) Variation with Other ?-Thalassemia Mutations in Southern China. Mediterranean journal of hematology and infectious diseases 2022 5 14 (1): e2022034. Liao Guiping, Zhou Yali, Yin Xiaolin, He Sheng, Wu Yi, Xiao Jian, Geng Zhili, Huang Qiuying, Luo Ganghui, Yang K |
?-Thalassemia Intermedia: Interaction of ?-Globin Gene Triplication With ?-thalassemia Heterozygous in Spain. Frontiers in medicine 2022 4 9 866396. Ropero Paloma, González Fernández Fernando Ataúlfo, Nieto Jorge M, Torres-Jiménez Williana Melissa, Benavente Celi |
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 |
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 |
A review of the main genetic factors influencing the course of COVID-19 in Sardinia: the role of human leukocyte antigen-G. Frontiers in immunology 2023 6 14 1138559. Stefano Mocci, Roberto Littera, Luchino Chessa, Marcello Campagna, Maurizio Melis, Carla Maria Ottelio, Ignazio S Piras, Sara Lai, Davide Firinu, Stefania Tranquilli, Alessia Mascia, Monica Vacca, Daniele Schirru, Luigi Isaia Lecca, Stefania Rassu, Federica Cannas, Celeste Sanna, Mauro Giovanni Carta, Francesca Sedda, Erika Giuressi, Selene Cipri, Michela Miglianti, Andrea Perra, Sabrina Gigl |
Molecular Basis and Hematologic Phenotype of Hemoglobin H Disease Combined with Two Rare ?-Globin Mutations. Hemoglobin 2023 6 1-4. Yuling Qiu, Shilu Wei, Wei Hou, Ketong Lai, Hengying Zhu, Wenwei Li, Qi Li, Zheng Yang, Qisheng Shu, Ping Chen, Wuning |
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 |
?- and ?-Globin Gene Mutations in Individuals with Hemoglobinopathies in the Chattogram and Sylhet Regions of Bangladesh. Hemoglobin 2023 3 1-8. Kabir Tamanna, Anwar Saeed, Mourosi Jarin Taslem, Akter Shanjida, Hosen Mohammad Jak |
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 |
Evaluating the Clinical Utility of a Long-Read Sequencing-Based Approach in Prenatal Diagnosis of Thalassemia. Clinical chemistry 2023 1 69 (3): 239-250. Liang Qiaowei, He Jun, Li Qing, Zhou Yulin, Liu Yanqiu, Li Youqiong, Tang Lingfang, Huang Shengwen, Li Rong, Zeng Fanqian, Mao Aiping, Liu Yinyin, Liang Desheng, Wu Lingqi |
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 |
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- Page last updated:Mar 25, 2024
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