Human Genome Epidemiology Literature Finder
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Records 1 - 20 (of 20 Records) |
| Query Trace: Congenital Hypothyroidism and NKX2-5[original query] |
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| 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 |
| 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 |
| 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 |
| 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 |
| Chromosomal microarray and whole exome sequencing identify genetic causes of congenital hypothyroidism with extra-thyroidal congenital malformations. Clinica chimica acta; international journal of clinical chemistry 2018 12 489 103-108. Fu Chunyun, Luo Shiyu, Zhang Yue, Fan Xin, D'Gama Alissa M, Zhang Xiaofei, Zheng Haiyang, Su Jiasun, Li Chuan, Luo Jingsi, Agrawal Pankaj B, Li Qifei, Chen Shao |
| 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 |
| 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 |
| Clinical and genetic investigation of 136 Japanese patients with congenital hypothyroidism. Journal of pediatric endocrinology & metabolism : JPEM 2020 May . Tanaka Tatsushi, Aoyama Kohei, Suzuki Atsushi, Saitoh Shinji, Mizuno Har |
| 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 |
| Stochastic epigenetic mutations as possible explanation for phenotypical discordance among twins with congenital hypothyroidism. Journal of endocrinological investigation 2022 9 46 (2): 393-404. Gentilini D, Muzza M, de Filippis T, Vigone M C, Weber G, Calzari L, Cassio A, Di Frenna M, Bartolucci M, Grassi E S, Carbone E, Olivieri A, Persani |
| Mutational and bioinformatics analysis of the NKX2.1 gene in a cohort of Iranian pediatric patients with congenital hypothyroidism (CH). Physiology international 2022 Jun 109 (2): 261-277. Heidari Mohammad Mehdi, Madani Manshadi Seyed Ali, Eshghi Ahmad Reza, Talebi Fatemeh, Khatami Mehri, Bragança José, Ordooei Mahtab, Chamani Reyhane, Ghasemi Farzan |
| 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 |
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