Human Genome Epidemiology Literature Finder
Records 1 - 13 (of 13 Records) |
Query Trace: Thyroid Dysgenesis 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 |
FOXE1 gene mutation screening by multiplex PCR/DHPLC in CHARGE syndrome and syndromic and non-syndromic cleft palate. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 2006 May 836 (1-2): 39-46. Venza Mario, Visalli Maria, Venza Isabella, Torino Claudia, Saladino Rita, Teti Dia |
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 |
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 |
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 |
Genetic investigation of FOXE1 polyalanine tract in thyroid diseases: new insight on the role of FOXE1 in thyroid carcinoma. Cancer biomarkers : section A of Disease markers 2011 9 8 (1): 43-51. Kallel Rihab, Belguith-Maalej Salima, Akdi Abdelmounaim, Mnif Mouna, Charfeddine Ilhem, Galofré Pere, Ghorbel Abdelmonaim, Abid Mohamed, Marcos Ricard, Ayadi Hammadi, Velázquez Antonia, Hadj Kacem Hass |
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 |
Does the Polymorphism in the Length of the Polyalanine Tract of FOXE1 Gene Influence the Risk of Thyroid Dysgenesis Occurrence? Journal of thyroid research 2017 2017 2793205. Pimentel Clebson Pantoja, Cortinhas-Alves Erik Artur, de Oliveira Edivaldo Herculano Correa, Santana-da-Silva Luiz Carl |
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 |
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 |
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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- Page last updated:May 20, 2024
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