HuGE Literature Finder
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| 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 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 |
| Next-generation sequencing analysis of twelve known causative genes in congenital hypothyroidism. Clinica chimica acta; international journal of clinical chemistry 2017 Feb 468 76-80. Fan Xin, Fu Chunyun, Shen Yiping, Li Chuan, Luo Shiyu, Li Qifei, Luo Jingsi, Su Jiasun, Zhang Shujie, Hu Xuyun, Chen Rongyu, Gu Xuefan, Chen Shao |
| FOXE1 polyalanine tract length polymorphism in patients with thyroid hemiagenesis and subjects with normal thyroid. Hormone research in pædiatrics 2011 75 (5): 329-34. Szczepanek Ewelina, Ruchala Marek, Szaflarski Witold, Budny Bartlomiej, Kilinska Lidia, Jaroniec Malgorzata, Niedziela Marek, Zabel Maciej, Sowinski Jer |
| Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients. The Journal of clinical endocrinology and metabolism 2010 Apr 95 (4): 1981-5. Narumi Satoshi, Muroya Koji, Asakura Yumi, Adachi Masanori, Hasegawa Tomono |
| 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 |
| 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 |
| Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis. Human genetics 2007 Dec 122 (5): 467-76. Carré Aurore, Castanet Mireille, Sura-Trueba Sylvia, Szinnai Gabor, Van Vliet Guy, Trochet Delphine, Amiel Jeanne, Léger Juliane, Czernichow Paul, Scotet Virginie, Polak Mich |
| TTF-2/FOXE1 gene polymorphisms in Sicilian patients with permanent primary congenital hypothyroidism. Journal of endocrinological investigation 2007 Jan 30 (1): 13-9. Santarpia L, Valenzise M, Di Pasquale G, Arrigo T, San Martino G, Cicciò M P, Trimarchi F, De Luca F, Benvenga |
| A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate. Human molecular genetics 2002 Aug 11 (17): 2051-9. Castanet Mireille, Park Soo-Mi, Smith Aaron, Bost Michel, Léger Juliane, Lyonnet Stanislas, Pelet Anna, Czernichow Paul, Chatterjee Krishna, Polak Mich |
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