Human Genome Epidemiology Literature Finder
Records 1 - 19 (of 19 Records) |
Query Trace: Hypothyroidism and DUOXA2[original query] |
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A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism. International journal of molecular medicine 2012 Dec . Yi RH, Zhu WB, Yang LY, Lan L, Chen Y, Zhou JF, Wang J, Su YQ |
Novel genetic variants in the TPO gene cause congenital hypothyroidism. Scandinavian journal of clinical and laboratory investigation 2015 Jul 1-5. Ma Shao-Gang, Qiu Ya-Li, Zhu Hong, Liu Hong, Li Qing, Ji Chun-M |
DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population. Annals of laboratory medicine 2016 Mar 36 (2): 145-53. Park Kyoung Jin, Park Hyun Kyung, Kim Young Jin, Lee Kyoung Ryul, Park Jong Ho, Park June Hee, Park Hyung Doo, Lee Soo Youn, Kim Jong W |
Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ. The Journal of clinical endocrinology and metabolism 2016 Aug jc20161879. Nicholas A K, Serra E G, Cangul H, Alyaarubi S, Ullah I, Schoenmakers E, Deeb A, Habeb A M, AlMaghamsi M, Peters C, Nathwani N, Aycan Z, Saglam H, Bober E, Dattani M, Shenoy S, Murray P G, Babiker A, Willemsen R, Thankamony A, Lyons G, Irwin R, Padidela R, Tharian K, Davies J H, Puthi V, Park S-M, Massoud A F, Gregory J W, Albanese A, Pease-Gevers E, Martin H, Brugger K, Maher E R, Chatterjee K, Anderson C A, Schoenmakers |
Heterozygous Mutations of the DUOXA2 and DUOX2 Genes in Dizygotic Twins with Congenital Hypothyroidism. Clinical laboratory 2016 62 (5): 849-54. Yang Liu-Xue, Ma Shao-Gang, Qiu Ya-Li, Zheng Xi |
High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism. Journal of pediatric endocrinology & metabolism : JPEM 2016 May . Matsuo Kumihiro, Tanahashi Yusuke, Mukai Tokuo, Suzuki Shigeru, Tajima Toshihiro, Azuma Hiroshi, Fujieda Ken |
A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism. Journal of clinical research in pediatric endocrinology 2015 Dec . Zheng Xiao, Ma Shao Gang, Qiu Ya Li, Guo Man Li, Shao Xiao Ju |
[Characteristics of DUOXA2 gene mutation in children with congenital hypothyroidism]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2017 1 19 (1): 59-63. Tan Min-Yi, Huang Yong-Lan, Li Bei, Jiang Xiang, Chen Qian-Yu, Jia Xue-Fang, Tang Cheng-Fang, Liu |
Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism. Journal of pediatric endocrinology & metabolism : JPEM 2020 May . Tanaka Tatsushi, Aoyama Kohei, Suzuki Atsushi, Saitoh Shinji, Mizuno Har |
DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid Dysgenesis and Gland-in-situ With Congenital Hypothyroidism. Frontiers in endocrinology 2020 5 11 237. Wang Fengqi, Zang Yucui, Li Miaomiao, Liu Wenmiao, Wang Yangang, Yu Xiaolong, Li Hua, Wang Fang, Liu Shig |
Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism. Molecular medicine reports 2020 Apr . Wang Huijuan, Kong Xiaohong, Pei Yanrui, Cui Xuemei, Zhu Yijie, He Zixuan, Wang Yanxia, Zhang Lirong, Zhuo Lixia, Chen Chao, Yan Xiao |
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 |
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 |
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 |
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 |
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 |
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 |
[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 |
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- Page last updated:Apr 22, 2024
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