Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 154 Records) |
Query Trace: TSHR[original query] |
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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 |
High Prevalence of DICER1 Mutations and Low Frequency of Gene Fusions in Pediatric Follicular-Patterned Tumors of the Thyroid. Endocrine pathology 2021 7 32 (3): 336-346. Bae Ja-Seong, Jung Seung-Hyun, Hirokawa Mitsuyoshi, Bychkov Andrey, Miyauchi Akira, Lee Sohee, Chung Yeun-Jun, Jung Chan Kw |
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 |
Moderating Role of TSHR and PTPN22 Gene Polymorphisms in Effects of Excessive Fluoride on Thyroid: a School-Based Cross-Sectional Study. Biological trace element research 2021 May . Wang Yang, Cui Yushan, Zhang Dandan, Chen Chen, Hou Changchun, Cao Lich |
Differentiation of benign thyroid nodules from malignant thyroid nodules through miR-205-5p and thyroid-stimulating hormone receptor mRNA. Hormones (Athens, Greece) 2021 3 20 (3): 571-580. Zhou Jie, Cao Li, Chen Zh |
Somatic Mutational Profile of High-Grade Serous Ovarian Carcinoma and Triple-Negative Breast Carcinoma in Young and Elderly Patients: Similarities and Divergences. Cells 2021 12 10 (12): . Serio Pedro Adolpho de Menezes Pacheco, de Lima Pereira Gláucia Fernanda, Katayama Maria Lucia Hirata, Roela Rosimeire Aparecida, Maistro Simone, Folgueira Maria Aparecida Azevedo Koi |
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 |
High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing. NPJ breast cancer 2022 6 8 (1): 76. Kostecka Anna, Nowikiewicz Tomasz, Olszewski Pawe?, Koczkowska Magdalena, Horbacz Monika, Heinzl Monika, Andreou Maria, Salazar Renato, Mair Theresa, Madanecki Piotr, Gucwa Magdalena, Davies Hanna, Skokowski Jaros?aw, Buckley Patrick G, P?ksa Rafa?, ?rutek Ewa, Szylberg ?ukasz, Hartman Johan, Jankowski Micha?, Zegarski Wojciech, Tiemann-Boege Irene, Dumanski Jan P, Piotrowski Arkadiu |
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 |
Genome-wide scan for selection signatures and genes related to heat tolerance in domestic chickens in the tropical and temperate regions in Asia. Poultry science 2022 5 101 (7): 101821. Guo Xing, Xing Chao-Hui, Wei Wei, Zhang Xue-Fang, Wei Zheng-Yu, Ren Lei-Lei, Jiang Jin-Jin, Li Min, Wang Jiang-Xian, He Xin-Xin, Wang Ming-Shan, Jiang Run-Sh |
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 |
Mutation of Hashimoto's Thyroiditis and Papillary Thyroid Carcinoma Related Genes and the Screening of Candidate Genes. Frontiers in oncology 2022 1 11 813802. Zhang Lizhuo, Zhou Lingyan, Feng Qingqing, Li Qinglin, Ge Mingh |
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 |
Identification of pathogenic germline variants in a large Chinese lung cancer cohort by clinical sequencing. Molecular oncology 2023 10 . Zhe Yu, Zirui Zhang, Jun Liu, Xiaoying Wu, Xiaojun Fan, Jiaohui Pang, Hua Bao, Jiani Yin, Xue Wu, Yang Shao, Zhengcheng Liu, Fang L |
Risk of malignancy in cytologically indeterminate thyroid nodules harboring thyroid stimulating hormone receptor mutations. Frontiers in endocrinology 2023 1 13 1073592. Whitmer Dorota, Phay John E, Holt Shelby, O'Donnell Benjamin, Nguyen Jay, Joseph Dennis, Chi Anthony, Wu Shuyang, Hao Yangyang, Huang Jing, Klopper Joshua P, Kloos Richard T, Kennedy Giulia C, Shin Joy |
Prognostic Model for High-Grade Neuroendocrine Carcinoma of the Lung Incorporating Genomic Profiling and Poly (ADP-ribose) Polymerase-1 Expression. JCO precision oncology 2024 4 8 e2300495. Hye Sook Kim, Jong Kwang Kim, Jeong Hyeon Lee, Young Joo Lee, Geon-Kuk Lee, Ji-Youn H |
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 |
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- Page last updated:Apr 22, 2024
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