Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records)
|Query Trace: Thyroid Dysgenesis and TSHR[original query]|
| 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 of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis.
Clinica chimica acta; international journal of clinical chemistry 2017 Apr 470 36-41.
Wang Fang, Liu Chang, Jia Xiuhua, Liu Xiangju, Xu Yinglei, Yan Shengli, Jia Xuewen, Huang Zuzhou, Liu Shiguo, Gu Maoshe
| 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
| 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
| 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
| 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
| 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
- Page last reviewed:Feb 1, 2023
- Page last updated:May 30, 2023
- Content source: