Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 37 Records) |
Query Trace: Congenital Hypothyroidism and TG[original query] |
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Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients. Clinica chimica acta; international journal of clinical chemistry 2016 Sep 462 127-132. Fu Chunyun, Wang Jin, Luo Shiyu, Yang Qi, Li Qifei, Zheng Haiyang, Hu Xuyun, Su Jiasun, Zhang Shujie, Chen Rongyu, Luo Jingsi, Zhang Yue, Shen Yiping, Wei Hongwei, Meng Dahua, Gui Baoheng, Zeng Zhangqin, Fan Xin, Chen Shao |
Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism. Clinica chimica acta; international journal of clinical chemistry 2017 Feb 468 76-80. Fan Xin, Fu Chunyun, Shen Yiping, Li Chuan, Luo Shiyu, Li Qifei, Luo Jingsi, Su Jiasun, Zhang Shujie, Hu Xuyun, Chen Rongyu, Gu Xuefan, Chen Shao |
Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population. Oncotarget 2017 1 8 (5): 8707-8716. Liu Shiguo, Wang Xueqin, Zou Hui, Ge Yinlin, Wang Fang, Wang Yangang, Yan Shengli, Xia Hongfei, Xing Mingzh |
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 |
Novel THRB mutation analysis in congenital hypothyroidism with thyroid dysgenesis. Journal of cellular biochemistry 2018 Aug . Zhou Zhixia, Yang Chengyu, Lv Fuyan, Liu Wenmiao, Yan Shengli, Zang Hongwei, Li Miaomiao, Wang Fang, Zang Yucui, Liu Shig |
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 |
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 |
Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformations. Clinica chimica acta; international journal of clinical chemistry 2018 12 489 103-108. Fu Chunyun, Luo Shiyu, Zhang Yue, Fan Xin, D'Gama Alissa M, Zhang Xiaofei, Zheng Haiyang, Su Jiasun, Li Chuan, Luo Jingsi, Agrawal Pankaj B, Li Qifei, Chen Shao |
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 |
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 |
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 |
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 |
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 |
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 |
Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism. The Journal of clinical endocrinology and metabolism 2021 10 107 (3): e1263-e1276. Albader Najla, Zou Minjing, BinEssa Huda A, Abdi Saba, Al-Enezi Anwar F, Meyer Brian F, Alzahrani Ali S, Shi Yuf |
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, 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 |
[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 |
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 |
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