Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: Thyroid Dysgenesis and DUOX2[original query] |
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The Prevalence, Clinical, and Molecular Characteristics of Congenital Hypothyroidism Caused by DUOX2 Mutations: A Population-Based Cohort Study in Guangzhou. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2016 Sep 48 (9): 581-8. Tan M, Huang Y, Jiang X, Li P, Tang C, Jia X, Chen Q, Chen W, Sheng H, Feng Y, Wu D, Liu |
Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients. Clinica chimica acta; international journal of clinical chemistry 2016 Sep 462 127-132. Fu Chunyun, Wang Jin, Luo Shiyu, Yang Qi, Li Qifei, Zheng Haiyang, Hu Xuyun, Su Jiasun, Zhang Shujie, Chen Rongyu, Luo Jingsi, Zhang Yue, Shen Yiping, Wei Hongwei, Meng Dahua, Gui Baoheng, Zeng Zhangqin, Fan Xin, Chen Shao |
High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism. PloS one 2018 13 (9): e0204323. Makretskaya Nina, Bezlepkina Olga, Kolodkina Anna, Kiyaev Alexey, Vasilyev Evgeny V, Petrov Vasily, Kalinenkova Svetlana, Malievsky Oleg, Dedov Ivan I, Tiulpakov Anato |
Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism. Endocrine journal 2018 7 65 (10): 1019-1028. Long Wei, Lu Guanting, Zhou Wenbai, Yang Yuqi, Zhang Bin, Zhou Hong, Jiang Lihua, Yu B |
Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis. The Journal of clinical endocrinology and metabolism 2018 3 103 (5): 1889-1898. Zou Minjing, Alzahrani Ali S, Al-Odaib Ali, Alqahtani Mohammad A, Babiker Omer, Al-Rijjal Roua A, BinEssa Huda A, Kattan Walaa E, Al-Enezi Anwar F, Al Qarni Ali, Al-Faham Manar S A, Baitei Essa Y, Alsagheir Afaf, Meyer Brian F, Shi Yuf |
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 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 |
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 |
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 |
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 |
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 |
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- Page last updated:May 20, 2024
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