Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 45 Records) |
Query Trace: Thyroid Dysgenesis[original query] |
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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 |
The Prevalence, Clinical, and Molecular Characteristics of Congenital Hypothyroidism Caused by DUOX2 Mutations: A Population-Based Cohort Study in Guangzhou. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2016 Sep 48 (9): 581-8. Tan M, Huang Y, Jiang X, Li P, Tang C, Jia X, Chen Q, Chen W, Sheng H, Feng Y, Wu D, Liu |
Mutations in BOREALIN cause thyroid dysgenesis. Human molecular genetics 2016 12 26 (3): 599-610. Carré Aurore, Stoupa Athanasia, Kariyawasam Dulanjalee, Gueriouz Manelle, Ramond Cyrille, Monus Taylor, Léger Juliane, Gaujoux Sébastien, Sebag Frédéric, Glaser Nicolas, Zenaty Delphine, Nitschke Patrick, Bole-Feysot Christine, Hubert Laurence, Lyonnet Stanislas, Scharfmann Raphaël, Munnich Arnold, Besmond Claude, Taylor William, Polak Mich |
Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients. Clinica chimica acta; international journal of clinical chemistry 2016 Sep 462 127-132. Fu Chunyun, Wang Jin, Luo Shiyu, Yang Qi, Li Qifei, Zheng Haiyang, Hu Xuyun, Su Jiasun, Zhang Shujie, Chen Rongyu, Luo Jingsi, Zhang Yue, Shen Yiping, Wei Hongwei, Meng Dahua, Gui Baoheng, Zeng Zhangqin, Fan Xin, Chen Shao |
Screening of HHEX Mutations in Chinese Children with Thyroid Dysgenesis. Journal of clinical research in pediatric endocrinology 2015 Dec . Shiguo Liu, Jian Chai, Guohua Zheng, Huichao Li, Deguo |
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 |
Novel THRB mutation analysis in congenital hypothyroidism with thyroid dysgenesis. Journal of cellular biochemistry 2018 Aug . Zhou Zhixia, Yang Chengyu, Lv Fuyan, Liu Wenmiao, Yan Shengli, Zang Hongwei, Li Miaomiao, Wang Fang, Zang Yucui, Liu Shig |
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 |
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 |
Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis. Archives of endocrinology and metabolism 2018 Aug 62 (4): 466-471. Cerqueira Taíse Lima de Oliveira, Ramos Yanne Rocha, Strappa Giorgia Bruna, Jesus Mariana Souza de, Santos Jailciele Gonzaga, Sousa Camila, Carvalho Gildásio, Fernandes Vladimir, Boa-Sorte Ney, Amorim Tatiana, Silva Thiago Magalhães, Ladeia Ana Marice Teixeira, Acosta Angelina Xavier, Ramos Helton Estre |
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 |
[Epidemiology of congenital hypothyroidism in France: recent data]. Biologie aujourd'hui 2019 7 213 (1-2): 1-5. Léger Julia |
Gene Variants in NKX2-1 Do Not Represent a Major Etiological Factor of Primary Congenital Hypothyroidism in Mexican Population. Journal of pediatric genetics 2019 5 8 (2): 41-46. González-Del Angel Ariadna, Fernández-Hernández Liliana, Sánchez-Verdiguel Iraís, González-Núñez Aidy, Martínez-Cruz Víctor, Sánchez Carmen, Moreno-Rojas Rosario, Alcántara-Ortigoza Miguel Ang |
[TUBB1 mutation in children with congenital hypothyroidism and thyroid dysgenesis in Shandong, China]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2019 10 21 (10): 972-976. Sun Chun-Hui, Liu Wen-Miao, Li Miao-Miao, Zou Hui, Liu Shi-Guo, Wang Fa |
Identification and analyzes of DUOX2 mutations in two familial congenital hypothyroidism cases. Endocrine 2020 8 72 (1): 147-156. Li Liangshan, Liu Wenmiao, Zhang Liqin, Wang Fang, Wang Fengqi, Gu Maosheng, Wang Xiuli, Liu Shig |
Identification of Transient Receptor Potential Channel 4-Associated Protein as a Novel Candidate Gene Causing Congenital Primary Hypothyroidism. Hormone research in paediatrics 2020 5 93 (1): 16-29. Choukair Daniela, Eberle Birgit, Vick Philipp, Hermanns Pia, Weiss Birgit, Paramasivam Nagarajan, Schlesner Matthias, Lornsen Katharina, Roeth Ralph, Klutmann Carina, Kreis Jennifer, Hoffmann Georg F, Pohlenz Joachim, Rappold Gudrun A, Bettendorf Mark |
DUOX2 and DUOXA2 Variants Confer Susceptibility to Thyroid Dysgenesis and Gland-in-situ With Congenital Hypothyroidism. Frontiers in endocrinology 2020 5 11 237. Wang Fengqi, Zang Yucui, Li Miaomiao, Liu Wenmiao, Wang Yangang, Yu Xiaolong, Li Hua, Wang Fang, Liu Shig |
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 |
Nicotinamide nucleotide transhydrogenase mutation analysis in Chinese patients with thyroid dysgenesis. American journal of medical genetics. Part A 2021 9 188 (1): 89-98. Li Miaomiao, Tian Weibing, Wang Fengqi, Yang Chengyu, Zhang Lu, Tang Qian, Liu Shiguo, Wang Fa |
Genetic and Phenotypic Characteristics of Congenital Hypothyroidism in a Chinese Cohort. Frontiers in endocrinology 2021 9 12 705773. Long Wei, Guo Fang, Yao Ruen, Wang Ying, Wang Huaiyan, Yu Bin, Xue Pe |
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 |
Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism. Endocrine 2022 9 79 (1): 125-134. Li Liangshan, Li Xiaole, Wang Xiaoyu, Han Mengmeng, Zhao Dehua, Wang Fang, Liu Shig |
GWAS of thyroid dysgenesis identifies a risk locus at 2q33.3 linked to regulation of Wnt signaling.
Human molecular genetics 2022 5 31 (23): 3967-3974. Narumi Satoshi, Opitz Robert, Nagasaki Keisuke, Muroya Koji, Asakura Yumi, Adachi Masanori, Abe Kiyomi, Sugisawa Chiho, Kühnen Peter, Ishii Tomohiro, Nöthen Markus M, Krude Heiko, Hasegawa Tomono |
Clinical and genetic investigation in patients with permanent congenital hypothyroidism. Clinica chimica acta; international journal of clinical chemistry 2022 11 539 1-6. Zhou Lingna, Liu Shuang, Long Wei, Wang Lei-Lei, Yu B |
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:Apr 22, 2024
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