Human Genome Epidemiology Literature Finder
|
Records 1 - 30 (of 170 Records) |
| Query Trace: Carrier screening[original query] |
|---|
| Ethnically unique disease burden and limitations of current expanded carrier screening panels. International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2023 9 . Chih-Ling Chen, Ni-Chung Lee, Yin-Hsiu Chien, Wuh-Liang Hwu, Miao-Zi Hung, Yi-Lin Lin, Shin-Yu Lin, Chien-Nan L |
| 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 |
| Preconception Genetic Carrier Screening for Miscarriage Risk Assessment: A Bioinformatic Approach to Identifying Candidate Lethal Genes and Variants. medRxiv : the preprint server for health sciences 2023 7 . Mona Aminbeidokhti, Jia-Hua Qu, Shweta Belur, Hakan Cakmak, Eleni Jaswa, Ruth B Lathi, Marina Sirota, Michael P Snyder, Svetlana A Yatsenko, Aleksandar Rajkov |
| The Carrier Frequency of Two SMN1 Genes in Parents of Symptomatic Children with SMA and the Significance of SMN1 Exon 8 in Carriers. Genes 2023 7 14 (7): . Joanne E Davidson, Jacqueline S Russell, Noelia Nunez Martinez, David R Mowat, Kristi J Jones, Edwin P Kirk, Didu Kariyawasam, Michelle Farrar, Arlene D'Sil |
| Evaluating the performance of four assays for carrier screening of spinal muscular atrophy. Clinica chimica acta; international journal of clinical chemistry 2023 7 548 117496. Jianxin Tan, Jingjing Zhang, Ruihong Sun, Zhu Jiang, Yuguo Wang, Dingyuan Ma, Jiao Jiao, Hao Chen, Yingchun Lin, Qinxin Zhang, Zhengfeng Xu, Ping |
| Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients. Journal of human genetics 2023 6 . Li Zhang, Li Yu, Xianhong Shu, Jing Ding, Jingmin Zhou, Chunjiu Zhong, Baishen Pan, Wei Guo, Chunyan Zhang, Beili Wa |
| Clinical application value of expanded carrier screening in the population of childbearing age. European journal of medical research 2023 4 28 (1): 151. Fang Yuqin, Li Jingran, Zhang Miaomiao, Cheng Yuan, Wang Chaohong, Zhu Jianshe |
| Explanations for the discrepancy between variant frequency and homozygous disease occurrence: Lessons from Ashkenazi Jewish data. European journal of medical genetics 2023 4 104765. Zlotogora Joël, Harel Tamar, Meiner Vardiel |
| A Particular Focus on the Prevalence of ?- and ?-Thalassemia in Western Sicilian Population from Trapani Province in the COVID-19 Era. International journal of molecular sciences 2023 3 24 (5): . Daidone Rossella, Carollo Antonella, Perricone Maria Patrizia, Messina Renato, Balistreri Carmela Ri |
| [Carrier screening and prenatal diagnosis for thalassemia-associated mutations in Jiaxing area of Zhejiang]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 2 40 (3): 295-300. Jiang Huling, Zhou Chiyan, Yang Li, Li Suping, Liu Xiaod |
| Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population. Journal of human genetics 2023 12 . Li Shan Chen, Cheng Wei Yu, Wei Jiun Li, Wen Chi Hsieh, Yi Ping |
| 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 |
| Genetic screening of 15 hearing loss variants in 77,647 neonates with clinical follow-up. Molecular genetics & genomic medicine 2023 12 e2324. Lin Kun, Huang Jiexiang, Lin Hua, Han Junlin, Ruan Yijun, Zhang Lixian, Chen Mingqi |
| Molecular spectrum and prevalence of thalassemia investigated by third-generation sequencing in the Dongguan region of Guangdong Province, Southern China. Clinica chimica acta; international journal of clinical chemistry 2023 11 551 117622. Jiwu Lou, Manna Sun, Aiping Mao, Yinyin Liu, Ying Zhao, Youqing Fu, Yunshi Dai, Fu Xiong, Dongzhi Li, Juyan Zhang, Tizhen Yan, Yanhui L |
| Changing the standardised obstetric care by expanded carrier screening and counselling: a multicentre prospective cohort study. Journal of medical genetics 2023 10 . Han-Ying Chen, Shin-Yu Lin, Jin-Chung Shih, Jessica Kang, Yi-Yun Tai, Steven W Shaw, Kuang-Cheng Chen, Kevin Mai, Chien-Nan L |
| 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 |
| 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 |
| Evaluating the clinical efficacy of a long-read sequencing-based approach for carrier screening of spinal muscular atrophy. Human genomics 2024 9 18 (1): 110. Ju Long, Di Cui, Chunhui Yu, Wanli Me |
| 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 |
| Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology. BMC medical genomics 2024 8 17 (1): 214. Xiuhua Xu, Sijie He, Gang Li, Ziwei Wang, Luyi Lv, Zhiming Zhao, Qian Li, Baojun Shi, Gui-Min H |
| Application of whole exome sequencing in carrier screening for high-risk families without probands. Frontiers in genetics 2024 7 15 1415811. Qinlin Huang, Zhongjie Wang, Yanling Teng, Wen Zhang, Juan Wen, Huimin Zhu, Desheng Liang, Lingqian Wu, Zhuo |
| High carrier frequency for abetalipoproteinemia and evidence of a founder variant in a French-Canadian population. Journal of clinical lipidology 2024 6 . Simon-Pierre Guay, Martine Paquette, Lysanne Girard, Véronique Desgagné, Géraldine Gosse, Valérie Poulin, Luigi Bouchard, Alexis Baa |
| [Expert consensus on the genetic counseling for Dystrophinopathies]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 5 41 (6): 651-660. Genetic Counseling Consensus Expert Group For Monogenic Disease Carrier Screening, Genetic Counseling Group Of Medical Genetics Branch Of Chinese Medical Association, Medical Genetics Branch Of Chinese Medical Doctor Association, Genetic Diagnosis And Precision Medicine Branch Of The Chinese Association Of Birth Health And Science, Xiaoliang Liu, Yanyan Zhao, Hua Wang, Jesse Li-Ling, Lingqian Wu, Yanping Lu, Qingxian Cha |
| Comprehensive analysis of thalassemia alleles (CATSA) based on third-generation sequencing is a comprehensive and accurate approach for neonatal thalassemia screening. Clinica chimica acta; international journal of clinical chemistry 2024 5 560 119749. Ju Long, Chunhui Yu, Lei Sun, Mingkui Peng, Chuanlu Song, Aiping Mao, Jiahan Zhan, Enqi L |
| Screening of Spinal Muscular Atrophy Carriers and Prenatal Diagnosis in Pregnant Women in Yancheng, China. Biochemical genetics 2024 4 . Huilin Sun, Jianli Zheng, Qing'e Zhang, Feifei Ying, Yadong Fu, Yongjuan Guan, Jing Wu, Yueyun Zhou, Jingjing Dong, Mengjun Xu, Fangfang Yang, Ning An, Ning Shi, Lu Zhang, Shu Zhu, Jianbing Liu, Min |
| [Expanded carrier screening for 216 diseases in a cohort of 3 097 healthy Chinese individuals of childbearing age]. Zhonghua fu chan ke za zhi 2024 10 59 (10): 764-770. N Hao, K L Yin, H Z Zhang, Q W Qi, X Y Zhou, Y Lyu, Y L Jia |
| A capillary electrophoresis-based assay for carrier screening of the hotspot mutations in the CYP21A2 gene. Heliyon 2024 10 10 (19): e38222. Juan Tan, Shuping Jin, Linxiang Huang, Binbin Shao, Yan Wang, Yuguo Wang, Jingjing Zhang, Min Su, Jianxin Tan, Qing Cheng, Zhengfeng |
| 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 |
| Hereditary deafness carrier screening in 9,993 Chinese individuals. Frontiers in genetics 2024 1 14 1327258. Yanqiu Liu, Lei Wang, Lanlai Yuan, Yaqing Li, Zhengshi Chen, Bicheng Yang, Daqing Wang, Yu S |
| Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report. Heliyon 2024 1 10 (1): e23257. Xianglian Tang, Sheng Yi, Zailong Qin, Shang Yi, Junjie Chen, Qi Yang, Shanshan Li, Jingsi L |
- Page last reviewed:Feb 1, 2024
- Content source: