Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 84 Records) |
| Query Trace: Disease and HBB[original query] |
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| Positive predictive value highlights four novel candidates for actionable genetic screening from analysis of 220,000 clinicogenomic records. Genetics in medicine : official journal of the American College of Medical Genetics 2021 8 23 (12): 2300-2308. Schiabor Barrett Kelly M, Bolze Alexandre, Ni Yunyun, White Simon, Isaksson Magnus, Sharma Lavania, Levin Elissa, Lee William, Grzymski Joseph J, Lu James T, Washington Nicole L, Cirulli Elizabeth |
| Haplotype-resolved germline and somatic alterations in renal medullary carcinomas. Genome medicine 2021 7 13 (1): 114. Tan Kar-Tong, Kim Hyunji, Carrot-Zhang Jian, Zhang Yuxiang, Kim Won Jun, Kugener Guillaume, Wala Jeremiah A, Howard Thomas P, Chi Yueh-Yun, Beroukhim Rameen, Li Heng, Ha Gavin, Alper Seth L, Perlman Elizabeth J, Mullen Elizabeth A, Hahn William C, Meyerson Matthew, Hong Andrew |
| Genomic Tools for the Identification of Loci Associated with Facial Eczema in New Zealand Sheep. Genes 2021 10 12 (10): . McRae Kathryn M, Rowe Suzanne J, Johnson Patricia L, Baird Hayley J, Cullen Neil G, Bixley Matthew J, Plowman Jeffrey E, Deb-Choudhury Santanu, Brauning Rudiger, Amyes Neville C, Dodds Ken G, Newman Sheryl-Anne N, McEwan John C, Clarke Shannon |
| 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 |
| Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks. Molecular genetics and metabolism reports 2022 9 33 100911. Pehrsson Minja, Heikkinen Hanna, Wartiovaara-Kautto Ulla, Mäntylahti Sampo, Bäckström Pia, Lassenius Mariann I, Uusi-Rauva Kristiina, Carpén Olli, Elomaa Kai |
| Genetic modulation of anemia severity, hemolysis level, and hospitalization rate in Angolan children with Sickle Cell Anemia. Molecular biology reports 2022 Sep . Germano Isabel, Santos Brígida, Delgadinho Mariana, Ginete Catarina, Lopes Pedro, Arez Ana Paula, Brito Miguel, Faustino Pau |
| 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 |
| A case of G6PD Utrecht associated with ?-thalassemia responding to splenectomy. Pediatric blood & cancer 2022 6 69 (9): e29837. Yang Kun, Liu Xiaodong, Chen Kai, Luo Shan, Kong Wenqiang, Huang Wenying, Xiao Ji |
| Vignette-Based Reflections to Inform Genetic Testing Policies in Living Kidney Donors. Genes 2022 4 13 (4): . Singh Gurmukteshwar, Gohh Reginald, Clark Dinah, Kalra Kartik, Das Manoj, Bradauskaite Gitana, Bleyer Anthony J, Tanriover Bekir, Chang Alex R, Anand Prince |
| Profiling of 35 Cases of Hb S/Hb E (HBB: c.20A>T/HBB: c.79G>a), Disease and Association with ?-Thalassemia and ?-Globin Gene Cluster Haplotypes from Odisha, India. Hemoglobin 2022 3 45 (6): 380-386. Dehury Snehadhini, Mohanty Pradeep K, Patel Siris, Meher Satyabrata, Das Kishalaya, Purohit Prasanta, Sahoo Sarmila, Ratha Jagnyesw |
| Fetal hemoglobin modulates neurocognitive performance in sickle cell anemia. Current research in translational medicine 2022 3 70 (3): 103335. Heitzer Andrew M, Longoria Jennifer, Rampersaud Evadnie, Rashkin Sara R, Estepp Jeremie H, Okhomina Victoria I, Wang Winfred C, Raches Darcy, Potter Brian, Steinberg Martin H, King Allison A, Kang Guolian, Hankins Jane |
| De novo mutation rates at the single-mutation resolution in a human HBB gene region associated with adaptation and genetic disease. Genome research 2022 1 32 (3): 488-498. Melamed Daniel, Nov Yuval, Malik Assaf, Yakass Michael B, Bolotin Evgeni, Shemer Revital, Hiadzi Edem K, Skorecki Karl L, Livnat A |
| 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 |
| 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 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 |
| Clinical and biological profile of Sickle Cell Anemia children in a rural area in Central Africa. Hematology (Amsterdam, Netherlands) 2023 4 28 (1): 2193770. Mbayabo Gloire, Ngole Mamy, Lumbala Paul Kabuyi, Lumaka Aimé, Race Valerie, Matthijs Gert, Mikobi Tite Minga, Devriendt Koenraad, Van Geet Chris, Lukusa Prosper Tshilo |
| ?- 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 |
| Alpha globin gene copy number and incident ischemic stroke risk among Black Americans. medRxiv : the preprint server for health sciences 2023 3 . Ruhl A Parker, Jeffries Neal, Yang Yu, Brooks Steven, Naik Rakhi P, Pecker Lydia H, Mott Bryan T, Winkler Cheryl A, Armstrong Nicole D, Zakai Neil A, Gutierrez Orlando M, Judd Suzanne, Howard Virginia, Howard George, Irvin Marguerite R, Cushman Mary, Ackerman Hans |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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, |
- Page last reviewed:Feb 1, 2024
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