HuGE Literature Finder
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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 |
| Mutation analysis of the NKX2.5 gene in Iranian pediatric patients with congenital hypothyroidism. Journal of pediatric endocrinology & metabolism : JPEM 2017 Jul . Khatami Mehri, Heidari Mohammad Mehdi, Tabesh Fatemeh, Ordooei Mahtab, Salehifar Zohr |
| 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 |
| Genetic analysis of the paired box transcription factor (PAX8) gene in a cohort of Polish patients with primary congenital hypothyroidism and dysgenetic thyroid glands. Journal of pediatric endocrinology & metabolism : JPEM 2015 Jul 28 (7-8): 735-43. Kumorowicz-Czoch Malgorzata, Madetko-Talowska Anna, Dudek Adam, Tylek-Lemanska Doro |
| A De novo PAX8 mutation in a Chinese child with congenital thyroid dysgenesis. International journal of clinical and experimental pathology 2015 8 (9): 11434-9. Zou Hui, Chai Jian, Liu Shiguo, Zang Hongwei, Yu Xiaoxia, Tian Liping, Li Huichao, Han Bingju |
| Screening of PAX8 mutations in Chinese patients with congenital hypothyroidism. Journal of endocrinological investigation 2012 Nov 35 (10): 889-92. Liu S G, Zhang S S, Zhang L Q, Li W J, Zhang A Q, Lu K N, Wang M J, Yan S L, Ma |
| Mutations in the gene encoding paired box domain (PAX8) are not a frequent cause of congenital hypothyroidism (CH) in Iranian patients with thyroid dysgenesis. Arquivos brasileiros de endocrinologia e metabologia 2010 Aug 54 (6): 555-9. Mahjoubi Frouzandeh, Mohammadi Mona Malek, Montazeri Maryam, Aminii Masoud, Hashemipour Mah |
| Mutations in TAZ/WWTR1, a co-activator of NKX2.1 and PAX8 are not a frequent cause of thyroid dysgenesis. Journal of endocrinological investigation 2009 Mar 32 (3): 3. Ferrara AM, De Sanctis L, Rossi G, Capuano S, Del Prete G, Zampella E, Gianino P, Corrias A, Fenzi G, Zannini M, Macchia PE |
| Screening for Pax8 mutations in patients with congenital hypothyroidism in South-West Germany. Hormone research 2006 66 (2): 96-100. Lanzerath Kirsten, Bettendorf Markus, Haag Christine, Kneppo Caroline, Schulze Egbert, Grulich-Henn Jürg |
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