Human Genome Epidemiology Literature Finder
Rare Diseases
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Query Trace: Thalassemia[original query] |
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Frequency of secondary modifiers in Beta Thalassemia intermedia in patients from Northern Punjab. Pakistan journal of medical sciences 2023 9 39 (5): 1517-1520. Fariha Nasreen, Attika Khalid, Lubna Zafar, Suhaib Ahmad, Asma Shai |
Molecular analysis and clinical significance of hemoglobin Quong Sze in Huizhou city, Southern China. Taiwanese journal of obstetrics & gynecology 2023 9 62 (5): 709-712. Zeyan Zhong, Zhiyang Guan, Dina Chen, Guoxing Zhong, Hailin He, Kunxiang Yang, Jianhong Ch |
Characterization of pediatric transfusion-dependent thalassemia patients in a large academic center. Journal of clinical laboratory analysis 2023 9 e24962. Dorsa Zarrabian, Mirette Han |
Correlations between Multiple SNPs and HbF Levels in ?-Thalassemia Carriers. Clinical laboratory 2023 9 69 (9): . Qin Xu, Ling Huang, Tingting Jin, Yuanyuan Han, Juan Liu, Wenqiu Zhang, Yao Biao, Bangquan An, Shengwen Hua |
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 |
OPG/RANK/RANKL axis relation to cardiac iron-overload in children with transfusion-dependent thalassemia. Scientific reports 2023 8 13 (1): 12568. Samira Zein Sayed, Asmaa Hosni Abd El-Hafez, Mostafa Ahmed Abu El-Ela, Mohamed Aboul-Fotouh Mourad, Suzan Omar Mou |
Beta Globin Gene Cluster Haplotypes in Beta Thalassemia in the Kurdistan Region of Iraq. Hemoglobin 2023 8 47 (3): 111-117. Shaima Al-Zebari, Nasir As Al-Allawi, Farida Nerwe |
Next-generation sequencing analysis of the molecular spectrum of thalassemia in Southern Jiangxi, China. Human genomics 2023 8 17 (1): 77. Tong Yang, Xuemei Luo, Yanqiu Liu, Min Lin, Qinfei Zhao, Wenqian Zhang, Zhigang Chen, Minghua Dong, Junli Wang, Qi Wang, Xiaokang Zhang, Tianyu Zho |
Genetic analysis of TMPRSS6 catalytic domain variants in Mexican patients with iron treatment refractoriness. Laboratory medicine 2023 8 . Rubiceli Hernández-Peña, Eric Jonathan Maciel-Cruz, Lourdes Del Carmen Rizo-De La Torre, Francisco Javier Perea-Díaz, Bertha Ibarra-Cort |
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 outcome and humoral immune responses of ?-thalassemia major patients with severe iron overload to SARS-CoV-2 infection and vaccination: a prospective cohort study. EClinicalMedicine 2023 8 62 102096. Hussam Ghoti, Hala Zreid, Israa Ghoti, Arno R Bourgonje, Arjan Diepstra, Harry van Goor, Irit Avivi, Hisham Jeadi, Larissa E van Eijk, Günter Wei |
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 |
Rare Case of Hemolytic Anemia and Distal Renal Tubular Acidosis in an adult due to Homozygous SLC4A1 Mutation. Indian journal of nephrology 2023 7 33 (3): 209-212. Wasiyeeullah Shaikh, Lohitaksha Suratkal, Abhay Bha |
Carrier rate of thalassemia among 25,910 high school students in Shaoguan area, China. Journal of medical screening 2023 7 9691413231188069. Yajun Chen, Rui Zhong, Xueqin Guo, Shiping Chen, Yan Wang, Jiufeng Li, Lichan Huang, Yi Li, Xiaoling Wang, Liting Wu, Mubao Huang, Xiaoyan Huang, Junbin Fang, Zhongjie Chu, Jun Sun, Zhiyu Peng, Yan S |
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 |
Significance of Zone 2 Peak on Capillary Electrophoresis in the Detection of Hemoglobin Constant Spring. Oman medical journal 2023 6 38 (3): e507. Marini Ramli, Nik Fatma Fairuz Nik Mohd Hasan, Majdan Ramli, Wan Suriana Wan Ab Rahman, Mohd Nazri Hassan, Noor Haslina Mohd Noor, Shafini Mohamed Yusoff, Salfarina Iberahim, Rosnah Bahar, Zefarina Zulkaf |
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 |
Hemoglobinopathies, merozoite surface protein-2 gene polymorphisms, and acquisition of Epstein Barr virus among infants in Western Kenya. BMC cancer 2023 6 23 (1): 566. Perez K Olewe, Shehu Shagari Awandu, Elly O Munde, Samuel B Anyona, Evans Raballah, Asito S Amolo, Sidney Ogola, Erick Ndenga, Clinton O Onyango, Rosemary Rochford, Douglas J Perkins, Collins Ou |
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 |
Molecular basis of a high Hb A/Hb F?-thalassemia trait: a retrospective analysis, genotype-phenotype interaction, diagnostic implication, and identification of a novel interaction with ?-globin gene triplication. PeerJ 2023 5 11 e15308. Chayada Soontornpanawet, Kritsada Singha, Hataichanok Srivorakun, Wanicha Tepakhan, Goonnapa Fucharoen, Supan Fucharo |
Human leukocyte antigen immunization in transfusion-dependent Moroccan patients with beta-thalassemia major: prevalence and risk factors. Hematology, transfusion and cell therapy 2023 5 . Sanae Ouadghiri, Kaoutar El Morabit, Naoual Elansari, Ouafae Atouf, Maria Elkababri, Laila Hessissen, Malika Essakal |
Analysis of genetic test results in 378 patients suspected of thalassaemia. Biotechnology & genetic engineering reviews 2023 5 1-15. Jing Jin, Weiying Feng, Zehao Fang, Jiaping Fu, Hongqiang Luo, Pan Hong, Li Hong, Lin Zha |
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 |
Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais. BMC medical genomics 2024 1 17 (1): 9. Wanna Chetruengchai, Prasit Phowthongkum, Vorasuk Shotelers |
CETP gene polymorphisms and haplotypes are explanatory variables for HDL cholesterol level in sickle cell disease. Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas 2024 1 57 e12879. N R C Cruz, T N S Valente, F O Ferreira, L R Macedo, A R Belisário, C M da Silva, N S Oliveira, A F F Gomides, C Velloso-Rodrigu |
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 |
Does TNF-? 308 G/A (rs1800629) gene polymorphism associate with liver and pancreas disorders in Iraqi adults with beta thalassemia major? Human antibodies 2024 1 . Hawraa Allawi Luaibi, Bushra Jasim Mohamm |
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- Page last updated:Mar 25, 2024
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