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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 9, 2023. (Total: 223907Documents)
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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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