Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 53 Records) |
| Query Trace: Hypothyroidism and TG[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 |
| Visceral Adiposity Index Levels in Patients with Hypothyroidism. Journal of the National Medical Association 2018 8 110 (6): 606-613. Pekgor Selma, Duran Cevdet, Kutlu Ruhu?en, Solak Ibrahim, Pekgor Ahmet, Eryilmaz Mehmet A |
| 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 |
| 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 |
| Study of Vitamin D Level and Vitamin D Receptor Polymorphism in Hypothyroid Egyptian Patients. Journal of thyroid research 2019 2019 3583250. ElRawi Hoda A, Ghanem Nashwa S, ElSayed Naglaa M, Ali Hala M, Rashed Laila A, Mansour Mai |
| 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 |
| The Relationship Between the Impairment of Endothelial Function and Thyroid Antibodies in Hashimoto's Thyroiditis Patients with Euthyroidism. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2020 6 52 (9): 642-646. Hu Yanjin, Yao Zhi, Wang Gua |
| 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 |
| 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 |
| Antithyroid Antibody Status in Non-Pregnant Adult Bangladeshi Patients with Subclinical Hypothyroidism. Mymensingh medical journal : MMJ 2020 1 29 (1): 156-161. Rafiq-Uddin M, Kamrul-Hasan A B, Asaduzzaman M, Aminul-Islam A K, Islam M, Rauniyar B K, Hoque A, Mustari M, Fariduddin M, Hasanat M |
| 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 |
| Vitamin D status in Hashimoto's thyroiditis and its association with vitamin D receptor genetic variants. The Journal of steroid biochemistry and molecular biology 2021 5 212 105922. Hanna Hany William Z, Rizzo Cristiano, Abdel Halim Radwa Marawan, El Haddad Hemmat Elewa, Salam Randa, El-Sayed Abou-Youssef Haz |
| 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 |
| BDNF blood serum linkage with BDNF gene polymorphism (rs6265) in thyroid pathology patients in the West-Ukrainian population. Endocrine regulations 2021 12 55 (4): 193-203. Kamyshna Iryna I, Pavlovych Larysa B, Sydorchuk Larysa P, Malyk Igor V, Kamyshnyi Aleksandr |
| 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 |
| Association between NMDA gene polymorphism (rs4880213) and GRIN2B blood serum levels in thyroid pathology patients. Journal of medicine and life 2022 Jan 15 (1): 109-116. Kamyshna Iryna Ivanivna, Pavlovych Larysa Borysivna, Kamyshnyi Aleksandr Mychailovi |
| 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 |
| Protein tyrosine phosphatase non-receptor type 22 C1858T gene polymorphism in children with down syndrome and autoimmune thyroid diseases. La Pediatria medica e chirurgica : Medical and surgical pediatrics 2023 2 45 (1): . Faizi Muhammad, Rochmah Nur, Soetjipto Soetjipto, Endaryanto Anang, Basuki Sukmawati, Hisbiyah Yuni, Kurnia Perwitasari Ra |
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 18, 2023
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