Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 30 Records) |
| Query Trace: Congenital Hypothyroidism 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 |
| 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 |
| Biallelic p.R2223H mutation in the thyroglobulin gene causes thyroglobulin retention and severe hypothyroidism with subsequent development of thyroid carcinoma. The Journal of clinical endocrinology and metabolism 2010 1 95 (3): 1000-6. Raef Hussein, Al-Rijjal Roua, Al-Shehri Sameerah, Zou Minjing, Al-Mana Hadeel, Baitei Essa Y, Parhar Ranjit S, Al-Mohanna Futwan A, Shi Yuf |
| 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 |
| PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism. Clinica chimica acta; international journal of clinical chemistry 2015 Sep . Fu Chunyun, Chen Rongyu, Zhang Shujie, Luo Shiyu, Wang Jin, Chen Yun, Zheng Haiyang, Su Jiasun, Hu Xuyun, Fan Xin, Luo Jingsi, Yi Shang, Lai Yunli, Li Chuan, Xie Bobo, Shen Yiping, Gu Xuefan, Chen Shao |
| 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 |
| DUOX2 Mutations Are Frequently Associated With Congenital Hypothyroidism in the Korean Population. Annals of laboratory medicine 2016 Mar 36 (2): 145-53. Park Kyoung Jin, Park Hyun Kyung, Kim Young Jin, Lee Kyoung Ryul, Park Jong Ho, Park June Hee, Park Hyung Doo, Lee Soo Youn, Kim Jong W |
| 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 |
| Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort. Thyroid : official journal of the American Thyroid Association 2016 Jul . Löf Christoffer, Patyra Konrad, Kuulasmaa Teemu, Vangipurapu Jagadish, Undeutsch Henriette, Jäschke Holger, Pajunen Tuulia, Kero Andreina, Krude Heiko, Biebermann Heike, Kleinau Gunnar, Kühnen Peter, Rantakari Krista, Miettinen Päivi, Kirjavainen Turkka, Pursiheimo Juha-Pekka, Mustila Taina, Jääskeläinen Jarmo, Ojaniemi Marja, Toppari Jorma, Ignatius Jaakko, Laakso Markku, Kero Juk |
| Heterozygous Mutations of the DUOXA2 and DUOX2 Genes in Dizygotic Twins with Congenital Hypothyroidism. Clinical laboratory 2016 62 (5): 849-54. Yang Liu-Xue, Ma Shao-Gang, Qiu Ya-Li, Zheng Xi |
| 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 |
| 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 |
| Transient PAX8 Expression in Islets During Pregnancy Correlates With ?-Cell Survival, Revealing a Novel Candidate Gene in Gestational Diabetes Mellitus. Diabetes 2018 10 68 (1): 109-118. Martin-Montalvo Alejandro, López-Noriega Livia, Jiménez-Moreno Carmen, Herranz Amanda, Lorenzo Petra I, Cobo-Vuilleumier Nadia, Tamayo Alejandra, González-Guerrero Cristian, Hofsteede Jonathan S W R, Lebreton Fanny, Bosco Domenico, García Toscano Miguel, Herranz Lucrecia, Anselmo Joao, Moreno José Carlos, Gauthier Benoit |
| 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 |
| Novel non-synonymous mutations of PAX8 in a cohort of Chinese with congenital hypothyroidism. Chinese medical journal 2019 Mar . Qian Fang, Li Gui-Yu, Wu Xiang-Jun, Jia Qin, Lyu Guan-Ting, Wang Man-Li, Wang J |
| 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 |
| Screening of frequent variants associated with congenital hypothyroidism: a comparison with next generation sequencing. Endocrine journal 2021 7 68 (12): 1411-1419. Watanabe Daisuke, Yagasaki Hideaki, Narusawa Hiromune, Saito Tomohiro, Mitsui Yumiko, Miyake Kunio, Ohta Masanori, Inukai Takes |
| 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 |
| Genetic Variability of the Paired Box Transcription Factor; PAX8 Gene: Guidance Towards Treatment Strategies in a Cohort of Congenital Hypothyroidism. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2021 4 53 (5): 311-318. El-Ella Sohier S Abou, Khattab Essam Shawky A E H, Beddah Rehab K, Barseem Naglaa Fat |
| 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 |
| Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome. American journal of human genetics 2021 Jan . Chen Na, Zhao Sen, Jolly Angad, Wang Lianlei, Pan Hongxin, Yuan Jian, Chen Shaoke, Koch André, Ma Congcong, Tian Weijie, Jia Ziqi, Kang Jia, Zhao Lina, Qin Chenglu, Fan Xin, Rall Katharina, Coban-Akdemir Zeynep, Chen Zefu, Jhangiani Shalini, Liang Ze, Niu Yuchen, Li Xiaoxin, Yan Zihui, Wu Yong, Dong Shuangshuang, Song Chengcheng, Qiu Guixing, Zhang Shuyang, Liu Pengfei, Posey Jennifer E, Zhang Feng, Luo Guangnan, Wu Zhihong, , Su Jianzhong, Zhang Jianguo, Chen Eugenia Y, Rouskas Konstantinos, Glentis Stavros, Bacopoulou Flora, Deligeoroglou Efthymios, Chrousos George, Lyonnet Stanislas, Polak Michel, Rosenberg Carla, Dingeldein Irene, Bonilla Ximena, Borel Christelle, Gibbs Richard A, Dietrich Jennifer E, Dimas Antigone S, Antonarakis Stylianos E, Brucker Sara Y, Lupski James R, Wu Nan, Zhu L |
| 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 |
| A Case-Control Study of the Relationship Between Genetic Polymorphism and Cretinism in Xinjiang. Pharmacogenomics and personalized medicine 2023 8 16 785-794. Jia Huang, Haiyan Wu, Guiqiang Zhao, Yan Ma, Yunping An, Li Sun, Fuye Li, Shengling Wa |
- Page last reviewed:Feb 1, 2023
- Page last updated:Sep 29, 2023
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