Human Genome Epidemiology Literature Finder
Records 1 - 15 (of 15 Records) |
Query Trace: Thyroid Dysgenesis and PAX8[original query] |
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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 |
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 |
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 |
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 |
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 |
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 |
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 testing of PAX8 mutations associated with thyroid dysgenesis in Chinese congenital hypothyroidism patients. Endokrynologia Polska 2020 2 71 (2): 153-159. Li Miaomiao, Wang Fang, Wang Xiuli, Zang Yucui, Liu Wenmiao, Wang Fengqi, Zhang Lu, Tang Qian, Liu Shiguo, Zhao Deh |
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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:May 06, 2024
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