Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 21 (of 21 Records) |
Query Trace: Hydrops Fetalis[original query] |
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PCR-based analysis of alpha-thalassemia in Southern Taiwan. International journal of hematology 2002 Apr 75 (3): 277-80. Chen Tyen-Po, Liu Ta-Chih, Chang Chao-Sung, Chang Jang-Gowth, Tsai Hui-Jen, Lin Sheng-Fu |
Molecular epidemiological study of alpha- and beta-thalassemia in Sihui city. Di 1 jun yi da xue xue bao = Academic journal of the first medical college of PLA 2003 Jul 23 (7): 716-9. Tan Jin-rong, Li Wen-jun, Ma Jian-ying, Mo Qiu-hua, Li Li-yun, Jia Shi-qi, Lao Xiong-wu, Li Li-yan, He Ru-qiao, Xu Xiang-m |
Is routine molecular screening for common alpha-thalassaemia deletions necessary as part of an antenatal screening programme? Journal of medical screening 2007 14 (2): 60-1. Sorour Y, Heppinstall S, Porter N, Wilson G A, Goodeve A C, Rees D, Wright |
Hb Constant Spring [alpha 142, Term-->Gln (TAA>CAA in alpha2)] in the alpha-thalassemia of anemic patients in Myanmar. Hemoglobin 2008 32 (5): 454-61. Ne-Win , Harano Keiko, Harano Teruo, Kyaw-Shwe , Aye-Aye-Myint , Khin-Thander-Aye , Okada Shige |
Simple method for screening of alpha-thalassaemia 1 carriers. International journal of hematology 2009 Jun 89 (5): 559-67. Tayapiwatana Chatchai, Kuntaruk Surakit, Tatu Thanusak, Chiampanichayakul Sawitree, Munkongdee Thongperm, Winichagoon Pranee, Fuchareon Suthat, Kasinrerk Watcha |
Rapid diagnosis of alpha-thalassemia by melting curve analysis. The Journal of molecular diagnostics : JMD 2010 May 12 (3): 354-8. Munkongdee Thongperm, Vattanaviboon Phantip, Thummarati Parichut, Sewamart Paijit, Winichagoon Pranee, Fucharoen Suthat, Svasti Saovar |
Alpha thalassemia gene mutations in neonates from Mazandaran, Iran, 2012. Hematology (Amsterdam, Netherlands) 2014 Jun 19 (4): 192-5. Jalali Hossein, Mahdavi Mohammad Reza, Roshan Payam, Kosaryan Mehrnoush, Karami Hosein, Mahdavi Mehr |
Rapid detection of a-thalassaemia alleles of --(SEA)/, -a(3.7)/ and -a(4.2)/ using a dual labelling, self-quenching hybridization probe/melting curve analysis. Molecular and cellular probes 2015 Jul . Gao Lan, Liu Yanhui, Sun Manna, Zhao Ying, Xie Rungui, He Yi, Xu Wanfang, Liu Jianxin, Lin Yangyang, Lou Ji |
Alpha thalassemia deletions found in suspected cases of beta thalassemia major in Pakistani population. Pakistan journal of medical sciences 0 33 (2): 411-416. Shahid Saba, Nadeem Muhammad, Zahid Danish, Hassan Jawad, Ansari Saqib, Shamsi Tah |
Invasive prenatal diagnosis of ?-thalassemia to control Hb Bart's hydrops fetalis syndrome: 15 years of experience. Archives of gynecology and obstetrics 2018 6 298 (2): 307-311. Lai Ketong, Li Shuquan, Lin Weixiong, Yang Dezhai, Chen Wenqiang, Li Minqing, Pang Lihong, Chen Pi |
Molecular characteristics of thalassemia and hemoglobin variants in prenatal diagnosis program in northern Thailand. International journal of hematology 2019 6 110 (4): 474-481. Mankhemthong Kanittha, Phusua Arunee, Suanta Sudjai, Srisittipoj Pitipong, Charoenkwan Pimlak, Sanguansermsri Torpo |
Strong Linkage of the Single Nucleotide Polymorphism rs77308790 with an ?-Thalassemia (- - deletion) Allele and Application for Double-Check Diagnosis of Hb Bart's Hydrops Fetalis Syndrome in Thailand. Hemoglobin 2019 10 43 (4-5): 236-240. Jomoui Wittaya, Tepakhan Wanicha, Karnpean Rossar |
[Genetic analysis of a family with recurrent hydrops fetalis and dilated cardiomyopathy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 10 36 (10): 1028-1030. Wu Qinghua, Ma Xiyang, Shi Huirong, Kong Xiangdong, Ren Shumin, Jiao Zhih |
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound. Prenatal diagnosis 2020 7 40 (10): 1300-1309. Corsten-Janssen Nicole, Bouman Katelijne, Diphoorn Janouk C D, Scheper Arjen J, Kinds Rianne, El Mecky Julia, Breet Hanna, Verheij Joke B G M, Suijkerbuijk Ron, Duin Leonie K, Manten Gwendolyn T R, van Langen Irene M, Sijmons Rolf H, Sikkema-Raddatz Birgit, Westers Helga, van Diemen Cleo |
Nonimmune hydrops fetalis: Genetic analysis and clinical outcome. Prenatal diagnosis 2020 Apr . Deng Qiong, Fu Fang, Yu Qiuxia, Li Ru, Li Fucheng, Wang Dan, Lei Tingying, Yang Xin, Liao C |
Spontaneous resolution of nonimmune hydrops fetalis in a fetus with TP63 gene mutation and LZTR1 gene variants. Clinical case reports 2021 8 9 (8): e04624. Hurni Yannick, Marangoni Martina, Garofalo Giulia, Cassart Marie, Tomasi Lisa, Vandernoot Isabelle, Smits Guillaume, Gounongbé Caroli |
Utility of fetal whole exome sequencing in the etiological evaluation and outcome of nonimmune hydrops fetalis. Prenatal diagnosis 2021 Jul . Correa Alec Reginald Errol, Naini Kamal, Mishra Pallavi, Dadhwal Vatsla, Agarwal Ramesh, Shukla Rashmi, Kabra Madhulika, Gupta Neer |
Hb Bart's Hydrops Fetalis Syndrome and Hb H Disease Caused by Deletional Chiang Rai (- -) ?-Thalassemia in Two Unrelated Thai Families. Hemoglobin 2021 4 45 (2): 75-79. Ruengdit Chedtapak, Khamphikham Pinyaphat, Jinorose Nathawat, Pornprasert Sako |
Genetics and Clinical Features of Noncompaction Cardiomyopathy in the Fetal Population. Frontiers in cardiovascular medicine 2021 2 7 617561. Sun Hairui, Hao Xiaoyan, Wang Xin, Zhou Xiaoxue, Zhang Ye, Liu Xiaowei, Han Jiancheng, Gu Xiaoyan, Sun Lin, Zhao Ying, Yi Tong, Zhang Hongjia, He Yih |
Whole-exome sequencing uncovered genetic diagnosis of severe inherited haemolytic anaemia: Correlation with clinical phenotypes. British journal of haematology 2022 7 198 (6): 1051-1064. Songdej Duantida, Kadegasem Praguywan, Tangbubpha Noppawan, Sasanakul Werasak, Deelertthaweesap Bhurichaya, Chuansumrit Ampaiwan, Sirachainan Nongnu |
Genetic disorders and pregnancy outcomes of non-immune hydrops fetalis in a tertiary referral center. BMC medical genomics 2023 4 16 (1): 83. Danhua Guo, Shuqiong He, Na Lin, Yifang Dai, Ying Li, Liangpu Xu, Xiaoqing |
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- Page last updated:Apr 22, 2024
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