Human Genome Epidemiology Literature Finder
Records 1 - 11 (of 11 Records) |
Query Trace: Goiter and DUOX2[original query] |
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The clinical and molecular characterization of patients with dyshormonogenic congenital hypothyroidism reveals specific diagnostic clues for DUOX2 defects. The Journal of clinical endocrinology and metabolism 2014 Mar 99 (3): E544-53. Muzza M, Rabbiosi S, Vigone M C, Zamproni I, Cirello V, Maffini M A, Maruca K, Schoenmakers N, Beccaria L, Gallo F, Park S-M, Beck-Peccoz P, Persani L, Weber G, Fugazzola |
Genotype-phenotype correlations of dyshormonogenetic goiter in children and adolescents from South India. Indian journal of endocrinology and metabolism 0 20 (6): 816-824. Ramesh Bangaraiah Gari, Bhargav Panchangam Ramakanth, Rajesh Bangaraiah Gari, Devi Nangedda Vimala, Vijayaraghavan Rajagopalan, Varma Bhongir Apar |
Zebrafish duox mutations provide a model for human congenital hypothyroidism. Biology open 2019 2 8 (2): . Chopra Kunal, Ishibashi Shoko, Amaya Enriq |
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 |
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 |
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 |
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 |
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 |
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 |
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- Page last updated:Mar 25, 2024
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