Human Genome Epidemiology Literature Finder
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Records 1 - 16 (of 16 Records) |
| Query Trace: Congenital Hypothyroidism and FOXE1[original query] |
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| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Analysis of Mutation Spectra of 28 Pathogenic Genes Associated With Congenital Hypothyroidism in the Chinese Han Population. Frontiers in endocrinology 2021 12 695426. Huang Miao, Lu Xiyan, Dong Guoqing, Li Jianxu, Chen Chengcong, Yu Qiuxia, Li Mingzhu, Su Yuey |
| 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 |
| Molecular and clinical characteristics of congenital hypothyroidism in a large cohort study based on comprehensive thyroid transcription factor mutation screening in Henan. Clinica chimica acta; international journal of clinical chemistry 2021 3 518 162-169. Li Liangshan, Jia Chenlu, Li Xiaole, Wang Fang, Wang Yangang, Chen Yanping, Liu Shiguo, Zhao Deh |
| 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 |
| Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis. Endocrine 2022 5 77 (1): 86-101. Molina Maricel F, Papendieck Patricia, Sobrero Gabriela, Balbi Viviana A, Belforte Fiorella S, Martínez Elena Bueno, Adrover Ezequiela, Olcese María C, Chiesa Ana, Miras Mirta B, González Verónica G, Pio Mauricio Gomes, González-Sarmiento Rogelio, Targovnik Héctor M, Rivolta Carina |
| The length of FOXE1 polyalanine tract in congenital hypothyroidism: Evidence for a pathogenic role from familial, molecular and cohort studies. Frontiers in endocrinology 2023 4 14 1127312. Grassi Elisa Stellaria, Rurale Giuditta, de Filippis Tiziana, Gentilini Davide, Carbone Erika, Coscia Francesca, Uraghi Sarah, Bullock Martyn, Clifton-Bligh Roderick J, Gupta Abhinav K, Persani Lu |
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