Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 60 Records) |
Query Trace: Hypothyroidism and TSHR[original query] |
---|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 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 |
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 |
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 |
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 |
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 |
Interactions between Polygenetic Variants and Lifestyle Factors in Hypothyroidism: A Hospital-Based Cohort Study. Nutrients 2023 9 15 (17): . Da Sol Kim, Sunmin Pa |
A Case-Control Study of the Relationship Between Genetic Polymorphism and Cretinism in Xinjiang. Pharmacogenomics and personalized medicine 2023 8 16 785-794. Jia Huang, Haiyan Wu, Guiqiang Zhao, Yan Ma, Yunping An, Li Sun, Fuye Li, Shengling Wa |
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 |
Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants. Nagoya journal of medical science 2023 6 85 (2): 369-374. Daisuke Watanabe, Hideaki Yagasaki, Yumiko Mitsui, Takeshi Inuk |
[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 |
Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T knock-in model. JCI insight 2024 1 . Kristiina Makkonen, Meeri Jännäri, Luís Crisóstomo, Matilda Kuusi, Konrad Patyra, Vladyslav Melnyk, Veli M Linnossuo, Johanna O Ojala, Rowmika Ravi, Christoffer Löf, Juho-Antti Mäkelä, Päivi J Miettinen, Saila Laakso, Marja Ojaniemi, Jarmo Jääskeläinen, Markku Laakso, Filip Bossowski, Beata Sawicka, Karolina Sto?ek, Artur Bossowski, Gunnar Kleinau, Patrick Scheerer, Finngen Finngen, Mary Pat Reeve, Jukka Ke |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 16, 2024
- Content source: