Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 69 Records) |
Query Trace: DUOX2[original query] |
---|
Newborn screening and single nucleotide variation profiling of TSHR, TPO, TG and DUOX2 candidate genes for congenital hypothyroidism. Molecular biology reports 2020 Sep . Kollati Yedukondalu, Akella Radha Rama Devi, Naushad Shaik Mohammad, Borkar Divya, Thalla Maunika, Nagalingam Swapna, Lingappa Lokesh, Patel Rajesh K, Reddy G Bhanuprakash, Dirisala Vijaya |
Identification and analyzes of DUOX2 mutations in two familial congenital hypothyroidism cases. Endocrine 2020 8 72 (1): 147-156. Li Liangshan, Liu Wenmiao, Zhang Liqin, Wang Fang, Wang Fengqi, Gu Maosheng, Wang Xiuli, Liu Shig |
DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients. Endocrine connections 2020 12 9 (11): 1121-1134. Sorapipatcharoen Kinnaree, Tim-Aroon Thipwimol, Mahachoklertwattana Pat, Chantratita Wasun, Iemwimangsa Nareenart, Sensorn Insee, Panthan Bhakbhoom, Jiaranai Poramate, Noojarern Saisuda, Khlairit Patcharin, Pongratanakul Sarunyu, Suprasongsin Chittiwat, Korwutthikulrangsri Manassawee, Sriphrapradang Chutintorn, Poomthavorn Preamrud |
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects. Clinical genetics 2021 9 100 (6): 713-721. Sun Feng, Zhang Rui-Jia, Cheng Feng, Fang Ya, Yang Rui-Meng, Ye Xiao-Ping, Han Bing, Zhao Shuang-Xia, Dong Mei, Song Huai-Do |
Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort. Frontiers in endocrinology 2021 9 12 705773. Long Wei, Guo Fang, Yao Ruen, Wang Ying, Wang Huaiyan, Yu Bin, Xue Pe |
Genetic factors contributing to late adverse musculoskeletal effects in childhood acute lymphoblastic leukemia survivors. The pharmacogenomics journal 2021 8 22 (1): 19-24. Shalmiev A, Nadeau G, Aaron M, Ouimet-Grennan E, Drouin S, Bertout L, Beaulieu P, St-Onge P, Veilleux L-N, Rauch F, Rezgui A, Petrykey K, Laverdière C, Sinnett D, Alos N, Krajinovic |
Screening of frequent variants associated with congenital hypothyroidism: a comparison with next generation sequencing. Endocrine journal 2021 7 68 (12): 1411-1419. Watanabe Daisuke, Yagasaki Hideaki, Narusawa Hiromune, Saito Tomohiro, Mitsui Yumiko, Miyake Kunio, Ohta Masanori, Inukai Takes |
Analysis of Mutation Spectra of 28 Pathogenic Genes Associated With Congenital Hypothyroidism in the Chinese Han Population. Frontiers in endocrinology 2021 12 695426. Huang Miao, Lu Xiyan, Dong Guoqing, Li Jianxu, Chen Chengcong, Yu Qiuxia, Li Mingzhu, Su Yuey |
Next-Generation Sequencing Analysis Reveals Frequent Familial Origin and Oligogenism in Congenital Hypothyroidism With Dyshormonogenesis. Frontiers in endocrinology 2021 7 12 657913. Oliver-Petit Isabelle, Edouard Thomas, Jacques Virginie, Bournez Marie, Cartault Audrey, Grunenwald Solange, Savagner Frédériq |
Genetic Evaluation of Congenital Hypothyroidism with Gland in situ Using Targeted Exome Sequencing. Annals of clinical and laboratory science 2021 Jan 51 (1): 73-81. Shin Jung Hyun, Kim Hye Young, Kim Young Mi, Lee Heirim, Bae Mi Hye, Park Kyung Hee, Lee Sae-Mi, Kwak Min Ju |
High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis. Frontiers in endocrinology 2020 11 545339. Stoupa Athanasia, Al Hage Chehade Ghada, Chaabane Rim, Kariyawasam Dulanjalee, Szinnai Gabor, Hanein Sylvain, Bole-Feysot Christine, Fourrage Cécile, Nitschke Patrick, Thalassinos Caroline, Pinto Graziella, Mnif Mouna, Baron Sabine, De Kerdanet Marc, Reynaud Rachel, Barat Pascal, Hachicha Mongia, Belguith Neila, Polak Michel, Carré Auro |
A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.
Communications biology 2021 Feb 4 (1): 156. Bell Steven, Rigas Andreas S, Magnusson Magnus K, Ferkingstad Egil, Allara Elias, Bjornsdottir Gyda, Ramond Anna, Sørensen Erik, Halldorsson Gisli H, Paul Dirk S, Burgdorf Kristoffer S, Eggertsson Hannes P, Howson Joanna M M, Thørner Lise W, Kristmundsdottir Snaedis, Astle William J, Erikstrup Christian, Sigurdsson Jon K, Vuckovic Dragana, Dinh Khoa M, Tragante Vinicius, Surendran Praveen, Pedersen Ole B, Vidarsson Brynjar, Jiang Tao, Paarup Helene M, Onundarson Pall T, Akbari Parsa, Nielsen Kaspar R, Lund Sigrun H, Juliusson Kristinn, Magnusson Magnus I, Frigge Michael L, Oddsson Asmundur, Olafsson Isleifur, Kaptoge Stephen, Hjalgrim Henrik, Runarsson Gudmundur, Wood Angela M, Jonsdottir Ingileif, Hansen Thomas F, Sigurdardottir Olof, Stefansson Hreinn, Rye David, , Peters James E, Westergaard David, Holm Hilma, Soranzo Nicole, Banasik Karina, Thorleifsson Gudmar, Ouwehand Willem H, Thorsteinsdottir Unnur, Roberts David J, Sulem Patrick, Butterworth Adam S, Gudbjartsson Daniel F, Danesh John, Brunak Søren, Di Angelantonio Emanuele, Ullum Henrik, Stefansson Ka |
Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism. Endocrinology 2021 2 162 (8): . Wang Fengqi, Xiaole Li, Ma Ruixin, Zhao Dehua, Liu Shig |
Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7. Journal of endocrinological investigation 2021 Nov . Acar S, Gürsoy S, Arslan G, Nalbanto?lu Ö, Hazan F, Köprülü Ö, Özkaya B, Özkan |
Clinical and Genetic Features of a Large Monocentric Series of Familial Non-Medullary Thyroid Cancers. Frontiers in endocrinology 2020 11 589340. Cirello Valentina, Colombo Carla, Karapanou Olga, Pogliaghi Gabriele, Persani Luca, Fugazzola Lau |
Genotype and phenotype correlation in a cohort of Chinese congenital hypothyroidism patients with DUOX2 mutations. Annals of translational medicine 2020 Dec 8 (24): 1649. Zheng Zhangqian, Yang Lin, Sun Chengjun, Wu Jing, Luo Feihong, Zhou Wenhao, Lu W |
Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism. Journal of endocrinological investigation 2022 9 46 (2): 393-404. Gentilini D, Muzza M, de Filippis T, Vigone M C, Weber G, Calzari L, Cassio A, Di Frenna M, Bartolucci M, Grassi E S, Carbone E, Olivieri A, Persani |
Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism. Endocrine 2022 9 79 (1): 125-134. Li Liangshan, Li Xiaole, Wang Xiaoyu, Han Mengmeng, Zhao Dehua, Wang Fang, Liu Shig |
Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis. Endocrine 2022 5 77 (1): 86-101. Molina Maricel F, Papendieck Patricia, Sobrero Gabriela, Balbi Viviana A, Belforte Fiorella S, Martínez Elena Bueno, Adrover Ezequiela, Olcese María C, Chiesa Ana, Miras Mirta B, González Verónica G, Pio Mauricio Gomes, González-Sarmiento Rogelio, Targovnik Héctor M, Rivolta Carina |
Clinical and genetic investigation in patients with permanent congenital hypothyroidism. Clinica chimica acta; international journal of clinical chemistry 2022 11 539 1-6. Zhou Lingna, Liu Shuang, Long Wei, Wang Lei-Lei, Yu B |
Gene mutations in children with permanent congenital hypothyroidism in Yunnan, China. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2022 Jun 51 (3): 306-313. Gong Yanling, Zhang Yinhong, Liu Fan, Zhu Baosheng, Zhou Xiaoyan, Chan Ying, Li Suyun, Li |
Whole-genome analysis identifies novel drivers and high-risk double-hit events in relapsed/refractory myeloma. Blood 2022 10 141 (6): 620-633. Ansari-Pour Naser, Samur Mehmet, Flynt Erin, Gooding Sarah, Towfic Fadi, Stong Nicholas, Estevez Maria Ortiz, Mavrommatis Konstantinos, Walker Brian, Morgan Gareth, Munshi Nikhil, Avet-Loiseau Herve, Thakurta Anj |
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China. Clinica chimica acta; international journal of clinical chemistry 2023 6 547 117459. Ting Zhang, Yaping Shen, Yanhua Xu, Dingwen Wu, Chi Chen, Rulai Ya |
[A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 5 40 (6): 641-647. Danyan Zhuang, Fei Wang, Shuxia Ding, Zhoushu Zheng, Qi Yu, Lanqiu Lyu, Shuni Sun, Rulai Yang, Wenwen Que, Haibo |
Case report: A reciprocal translocation-free and pathogenic DUOX2 mutation-free embryo selected by complicated preimplantation genetic testing resulted in a healthy live birth. Frontiers in genetics 2023 3 14 1066199. Shi Biwei, Ye Yingh |
Genotype-Phenotype Correlations in Autosomal Dominant and Recessive APC Mutation-Negative Colorectal Adenomatous Polyposis. Digestive diseases and sciences 2023 3 . Zhu Li-Hua, Dong Jian, Li Wen-Liang, Kou Zhi-Yong, Yang J |
[Genetic mutation profiles for children with congenital hypothyroidism in Fujian province]. Zhonghua yi xue za zhi 2023 2 103 (5): 336-343. Cheng F, Su Y Q, Wang X R, Wu F Y, Sun F, Fang Y, Zhang R J, Zhao S X, Song H |
Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2023 12 1-10. Duo Zhou, Rulai Yang, Xinwen Huang, Xiaolei Huang, Xin Yang, Huaqing Mao, Jianbin Yang, Zhengyan Zh |
[Analysis of the results for genetic disease screening among 1 000 newborns from Huzhou]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 4 41 (5): 551-555. Guosong Shen, Lin Zou, Wenwen Li, Kefeng Tang, Yaqin Zhang, Zhongying Ding, Xueping Sh |
Genetic and microbial determinants of azoxymethane-induced colorectal tumor susceptibility in Collaborative Cross mice and their implication in human cancer. Gut microbes 2024 4 16 (1): 2341647. Dan Li, Chenhan Zhong, Mengyuan Yang, Li He, Hang Chang, Ning Zhu, Susan E Celniker, David W Threadgill, Antoine M Snijders, Jian-Hua Mao, Ying Yu |
- Page last reviewed:Feb 1, 2024
- Page last updated:May 06, 2024
- Content source: