Records 1 - 10 (of 10 Records)
|Query Trace: Thyroid Dysgenesis and TPO[original query]|
| Final diagnosis in children with subclinical hypothyroidism and mutation analysis of the thyroid peroxidase gene (TPO).
Journal of pediatric endocrinology & metabolism : JPEM 2009 Sep 22 (9): 845-51.
Turkkahraman Doga, Alper Ozgul M, Aydin Funda, Yildiz Akin, Pehlivanoglu Suray, Luleci Guven, Akcurin Sema, Bircan Iff
| Characterization of mutations in the FOXE1 gene in a cohort of unrelated Malaysian patients with congenital hypothyroidism and thyroid dysgenesis.
Biochemical genetics 2010 Feb 48 (1-2): 141-51.
Kang In-Nee, Musa Maslinda, Harun Fatimah, Junit Sarni M
| 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
| 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 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
| 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
| 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
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- Page last updated:Dec 04, 2023
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