HuGE Literature Finder
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| [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 |
| DUOX1 Gene Missense Mutation Confers Susceptibility on Type 2 Amiodarone-Induced Thyrotoxicosis. International journal of molecular sciences 2023 2 24 (4): . Biakina Olga, Mitina Yulia, Gognieva Daria, Axenova Marina, Ermolaeva Alexandra, Bestavashvili Afina, Fadeev Valentin, Syrkin Abram, Kopylov Phili |
| 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 |
| Association of TSHR gene single nucleotide intronic polymorphism with the risk of hypothyroid and hyperthyroid disorders in Yazd province. Scientific reports 2022 9 12 (1): 15745. Naghibi Fahime Sadat, Miresmaeili Seyed Mohsen, Javid Aman |
| 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 |
| Newborn Genetic Screening Revealed Increased Levels of Biochemical Indicators in Carriers of Heterozygous Variants. Genetic testing and molecular biomarkers 2022 12 26 (12): 573-581. Zhang Wenyan, Jin Feng, Guo Ruolan, Qi Zhan, Wang Yaling, Li Xueling, Wu Yali, Li Wei, Hu Xuyun, Hao Chanju |
| 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 |
| 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 |
| 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 |
| Congenital Hypothyroidism Patients With Thyroid Hormone Receptor Variants Are Not Rare: A Systematic Review. Inquiry : a journal of medical care organization, provision and financing 2021 12 58 469580211067943. Da Dong-Zhu, Wang Ye, Wang Min, Long Zhi, Wang Qian, Liu J |
| Further Evidence That Defects in Main Thyroid Dysgenesis-Related Genes Are an Uncommon Etiology for Primary Congenital Hypothyroidism in Mexican Patients: Report of Rare Variants in FOXE1, NKX2-5 and TSHR. Children (Basel, Switzerland) 2021 6 8 (6): . Alcántara-Ortigoza Miguel Angel, Sánchez-Verdiguel Iraís, Fernández-Hernández Liliana, Enríquez-Flores Sergio, González-Núñez Aidy, Hernández-Martínez Nancy Leticia, Sánchez Carmen, González-Del Angel Ariad |
| 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 |
| 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 |
| Variant of TSHR is Not a Frequent Cause of Congenital Hypothyroidism in Chinese Han Patients. International journal of general medicine 2021 14 4135-4143. Xue Peng, Yang Yuqi, Yun Qi, Cui Yue, Yu Bin, Long W |
| 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 |
| 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 |
| 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 |
| The rs1991517 polymorphism is a genetic risk factor for congenital hypothyroidism. 3 Biotech 2020 6 10 (6): 285. Kollati Yedukondalu, Akella Radha Rama Devi, Naushad Shaik Mohammad, Thalla Maunika, Reddy G Bhanuprakash, Dirisala Vijaya |
| Mutation screening of the TSHR gene in 220 Chinese patients with congenital hypothyroidism. Clinica chimica acta; international journal of clinical chemistry 2019 Jul . Fang Ya, Sun Feng, Zhang Rui-Jia, Zhang Chang-Run, Yan Chen-Yan, Zhou Zheng, Zhang Qian-Yue, Li Lu, Ying Ying-Xia, Zhao Shuang-Xia, Liang Jun, Song Huai-Do |
| Double variants in TSHR and DUOX2 in a patient with hypothyroidism: case report. Journal of pediatric endocrinology & metabolism : JPEM 2019 9 32 (11): 1299-1303. Sasivari Zerin, Szinnai Gabor, Seebauer Britta, Konrad Daniel, Lang-Muritano Mariarosar |
| Association between genetic polymorphism and levothyroxine bioavailability in hypothyroid patients. Endocrine journal 2018 1 65 (3): 317-323. Arici Merve, Oztas Ezgi, Yanar Fatih, Aksakal Nihat, Ozcinar Beyza, Ozhan G |
| Association of TSHR Gene Copy Number Variation with TSH Abnormalities. Biological trace element research 2018 3 186 (1): 85-90. Pang Yi, Guan Yunfeng, Jin Xing, Shen Hongmei, Liu Lixiang, Jia Qingzhen, Meng Fangang, Zhang Xiao |
| Concurrent TSHR mutations and DIO2 T92A polymorphism result in abnormal thyroid hormone metabolism. Scientific reports 2018 7 8 (1): 10090. Park Eunkuk, Jung Jaehoon, Araki Osamu, Tsunekawa Katsuhiko, Park So Young, Kim Jeonghyun, Murakami Masami, Jeong Seon-Yong, Lee Siho |
| 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 |
| 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 |
| 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 |
| Subclinical thyroid disease and single nucleotide polymorphisms in reproductive-age women in areas of Shanxi Province, China, where iodine exposure is excessive. Asia Pacific journal of clinical nutrition 0 27 (6): 1366-1373. Su Chang, Yu Tianlong, Zhao Rencheng, Wang Yunan, Jia Haihan, Jing Miao, Liu Pe |
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- Page last updated:Mar 22, 2023
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