Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 52 Records) |
| Query Trace: Congenital Hypothyroidism and TPO[original query] |
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| 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 |
| Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism. Journal of pediatric endocrinology & metabolism : JPEM 2019 8 32 (11): 1265-1273. Santos-Silva Rita, Rosário Marta, Grangeia Ana, Costa Carla, Castro-Correia Cíntia, Alonso Isabel, Leão Miguel, Fontoura Manu |
| Novel non-synonymous mutations of PAX8 in a cohort of Chinese with congenital hypothyroidism. Chinese medical journal 2019 Mar . Qian Fang, Li Gui-Yu, Wu Xiang-Jun, Jia Qin, Lyu Guan-Ting, Wang Man-Li, Wang J |
| Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism. The Journal of clinical endocrinology and metabolism 2019 12 105 (5): 1564-72. Bruellman Ryan J, Watanabe Yui, Ebrhim Reham S, Creech Matthew K, Abdullah Mohamed A, Dumitrescu Alexandra M, Refetoff Samuel, Weiss Roy |
| 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 |
| The TPO mutation screening and genotype-phenotype analysis in 230 Chinese patients with congenital hypothyroidism. Molecular and cellular endocrinology 2020 2 506 110761. Zhang Rui-Jia, Sun Feng, Chen Feng, Fang Ya, Yan Chen-Yan, Zhang Chang-Run, Ying Ying-Xia, Wang Zheng, Zhang Cao-Xu, Wu Feng-Yao, Han Bing, Liang Jun, Zhao Shuang-Xia, 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 |
| Long-Term Outcome of Patients with TPO Mutations. Journal of clinical medicine 2021 9 10 (17): . Tobias Leraz, Elias-Assad Ghadir, Khayat Morad, Admoni Osnat, Almashanu Shlomo, Tenenbaum-Rakover Yarde |
| 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 |
| 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 |
| 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 |
| 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 |
| Screening and Functional Analysis of TPO Gene Mutations in a Cohort of Chinese Patients With Congenital Hypothyroidism. Frontiers in endocrinology 2022 1 12 774941. Wang Huijjuan, Wang Wenxia, Chen Xi, Shi Hailong, Shi Yinmin, Ding Guife |
| Genetic screening and functional analysis of TPO variants in Chinese patients with congenital hypothyroidism. Hormone research in paediatrics 2023 9 . Hai-Yang Zhang, Feng-Yao Wu, Xue-Song Li, Cao-Xu Zhang, Ping-Hui Tu, Rui-Meng Yang, Xiao-Yu Liu, Ren-Jie Cui, Liu Yang, Chen-Yang Wu, Rui-Jia Zhang, Ya Fang, Feng Sun, Jun Liang, Feng Cheng, Huai-Dong Song, Shuang-Xia Zh |
| 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 |
| Case Report - Multinodular goiter in a patient with Congenital Hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome: the possible synergic role of TPO and PTEN mutation. Frontiers in endocrinology 2023 6 14 1205785. Gaia Vincenzi, Ilenia Teresa Petralia, Marco Abbate, Giulia Tarantola, Silvia Laura Carla Meroni, Riccardo Maggiore, Gilberto Mari, Maria Grazia Patricelli, Marco Schiavo Lena, Graziano Barera, Maria Cristina Vigo |
| [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 |
| Frequency of Mutations in the TPO Gene in Patients with Congenital Hypothyroidism Due to Dyshormonogenesis in Chile. Medicina (Kaunas, Lithuania) 2024 7 60 (7): . María Clara Arteaga-Jacobo, Ángel Roco-Videla, Claudio Villota Arcos, Patricio González-Hormazábal, Víctor Gonzalo-Castro, María Virginia Pérez-Flor |
| 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 |
| 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 |
- Page last reviewed:Feb 1, 2024
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