Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 58 Records) |
| Query Trace: Congenital Hypothyroidism and DUOX2[original query] |
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| 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 |
| 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 |
| 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 |
| Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects. Clinical genetics 2021 9 100 (6): 713-721. Sun Feng, Zhang Rui-Jia, Cheng Feng, Fang Ya, Yang Rui-Meng, Ye Xiao-Ping, Han Bing, Zhao Shuang-Xia, Dong Mei, Song Huai-Do |
| 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 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 |
| 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 |
| 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 |
| Genotype and phenotype correlation in a cohort of Chinese congenital hypothyroidism patients with DUOX2 mutations. Annals of translational medicine 2020 Dec 8 (24): 1649. Zheng Zhangqian, Yang Lin, Sun Chengjun, Wu Jing, Luo Feihong, Zhou Wenhao, Lu W |
| Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism. Journal of endocrinological investigation 2022 9 46 (2): 393-404. Gentilini D, Muzza M, de Filippis T, Vigone M C, Weber G, Calzari L, Cassio A, Di Frenna M, Bartolucci M, Grassi E S, Carbone E, Olivieri A, Persani |
| 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 |
| 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 |
| 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 |
| 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 |
| Case report: A reciprocal translocation-free and pathogenic DUOX2 mutation-free embryo selected by complicated preimplantation genetic testing resulted in a healthy live birth. Frontiers in genetics 2023 3 14 1066199. Shi Biwei, Ye Yingh |
| [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 |
| Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2023 12 1-10. Duo Zhou, Rulai Yang, Xinwen Huang, Xiaolei Huang, Xin Yang, Huaqing Mao, Jianbin Yang, Zhengyan Zh |
| Genetic etiology in patients diagnosed with congenital hypothyroidism with new-generation sequencing: A single-center experience. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2024 7 . Emel Hatun Aytaç Kaplan, Serdar Merm |
| Functional characterization of thyroid peroxidase missense variants causing thyroid dyshormonogenesis in Asian Indian population. Hormone research in paediatrics 2024 7 . Asodu Sandeep Sarma, Ankush Desai, Madhava Rao, Jaya Prakash Sahoo, Channabasappa Shivaprasad, Prajnya Ranganath, Pragna Lakshmi, Lorraine D'Sa, Ashwin Dal |
| Molecular and Clinical Features of Congenital Hypothyroidism due to Multiple DUOX2 Variants. Thyroid : official journal of the American Thyroid Association 2024 5 . Erika Uehara, Kiyomi Abe, Kanako Tanase-Nakao, Koji Muroya, Atsushi Hattori, Keiko Matsubara, Maki Fukami, Satoshi Naru |
| Mutation spectra and genotype?phenotype analysis of congenital hypothyroidism in a neonatal population. Biomedical reports 2024 12 22 (2): 30. Xiang Huang, Qiaoyi Shao, Shi Weng, Wenfang Chen, Weixi Yuan, Jiayu Tan, Xuexi Yang, Xi |
| Genetic analyses in a cohort of pediatric patients with congenital hypothyroidism based on congenital hypothyroidism consensus guideline. Hormone research in paediatrics 2024 10 1-16. Erdal Kurnaz, Ayberk Türky?lmaz, O?uzhan Yaral?, Ay?e Sena Dönmez, Atilla Çay |
| Digenic Inheritance Mode in Congenital Hypothyroidism due to Thyroid Dysgenesis: HYPOTYGEN translational cohort study. The Journal of clinical endocrinology and metabolism 2025 1 . Athanasia Stoupa, Dulanjalee Kariyawasam, Fabienne Jabot-Hanin, Adrien Nguyen Quoc, Sylvain Hanein, Tioka Rabeony, Caroline Elie, Sandra Colas, Caroline Thalassinos, Isabelle Oliver-Petit, Muriel Houang, Régis Coutant, Pascal Barat, Marc Nicolino, Rachel Reynaud, Marc de Kerdanet, Candace Ben Signor, Sabine Baron, Catherine Raynaud-Ravni, Pierre-François Souchon, Juliane Léger, Mireille Castanet, Christine Bole-Feysot, Patrick Nitschke, Stanislas Lyonnet, Michel Polak, Aurore Car |
- Page last reviewed:Feb 1, 2024
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