Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 146 Records) |
Query Trace: Congenital Hypothyroidism[original query] |
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Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects. Clinical genetics 2021 9 100 (6): 713-721. Sun Feng, Zhang Rui-Jia, Cheng Feng, Fang Ya, Yang Rui-Meng, Ye Xiao-Ping, Han Bing, Zhao Shuang-Xia, Dong Mei, Song Huai-Do |
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 |
Mutation Screening and Functional Study of SLC26A4 in Chinese Patients with Congenital Hypothyroidism. Journal of clinical research in pediatric endocrinology 2021 9 14 (1): 46-55. Zhang Chang-Run, Shi Yuan-Ping, Zhang Cao-Xu, Sun Feng, Zhu Wen-Jiao, Zhang Rui-Jia, Fang Ya, Zhang Qian-Yue, Yan Chen-Yan, Ying Ying-Xia, Zhao Shuang-Xia, Song Huai-Do |
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 |
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 |
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 |
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 |
Newborn Genetic Screening Revealed Increased Levels of Biochemical Indicators in Carriers of Heterozygous Variants. Genetic testing and molecular biomarkers 2022 12 26 (12): 573-581. Zhang Wenyan, Jin Feng, Guo Ruolan, Qi Zhan, Wang Yaling, Li Xueling, Wu Yali, Li Wei, Hu Xuyun, Hao Chanju |
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 |
Gene mutations in children with permanent congenital hypothyroidism in Yunnan, China. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2022 Jun 51 (3): 306-313. Gong Yanling, Zhang Yinhong, Liu Fan, Zhu Baosheng, Zhou Xiaoyan, Chan Ying, Li Suyun, Li |
TSHB R75G is a founder variant and prevalent cause of low or undetectable TSH in Indian Jews. European thyroid journal 2022 1 11 (1): . Shaki David, Eskin-Schwartz Marina, Hadar Noam, Bosin Emily, Carmon Lior, Refetoff Samuel, Hershkovitz Eli, Birk Ohad S, Haim Al |
Screening and Functional Analysis of TPO Gene Mutations in a Cohort of Chinese Patients With Congenital Hypothyroidism. Frontiers in endocrinology 2022 1 12 774941. Wang Huijjuan, Wang Wenxia, Chen Xi, Shi Hailong, Shi Yinmin, Ding Guife |
Genetic screening and functional analysis of TPO variants in Chinese patients with congenital hypothyroidism. Hormone research in paediatrics 2023 9 . Hai-Yang Zhang, Feng-Yao Wu, Xue-Song Li, Cao-Xu Zhang, Ping-Hui Tu, Rui-Meng Yang, Xiao-Yu Liu, Ren-Jie Cui, Liu Yang, Chen-Yang Wu, Rui-Jia Zhang, Ya Fang, Feng Sun, Jun Liang, Feng Cheng, Huai-Dong Song, Shuang-Xia Zh |
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 |
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China. Clinica chimica acta; international journal of clinical chemistry 2023 6 547 117459. Ting Zhang, Yaping Shen, Yanhua Xu, Dingwen Wu, Chi Chen, Rulai Ya |
Case Report - Multinodular goiter in a patient with Congenital Hypothyroidism and Bannayan-Riley-Ruvalcaba syndrome: the possible synergic role of TPO and PTEN mutation. Frontiers in endocrinology 2023 6 14 1205785. Gaia Vincenzi, Ilenia Teresa Petralia, Marco Abbate, Giulia Tarantola, Silvia Laura Carla Meroni, Riccardo Maggiore, Gilberto Mari, Maria Grazia Patricelli, Marco Schiavo Lena, Graziano Barera, Maria Cristina Vigo |
Eighteen-years follow-up of congenital hypothyroidism by TSHR gene p.Arg109Gln and p.Arg450His variants. Nagoya journal of medical science 2023 6 85 (2): 369-374. Daisuke Watanabe, Hideaki Yagasaki, Yumiko Mitsui, Takeshi Inuk |
Molecular genetic screening of full-term small for gestational age. BMC pediatrics 2023 5 23 (1): 217. Shuman Zhang, Lingna Zhou, Lin Zhang, Yu Wang, Huaiyan Wa |
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 |
Developmental Trends in Postnatal Thyroid Hormones and Thyroid Dysfunction in Preterm Infants Born at less than 34 weeks Gestation. Fetal and pediatric pathology 2023 4 1-11. Chen Shaohong, Lu Xiaoyan, Yang Bicheng, Wu Jieru, Huang Hui, Zou Yang, Tang Wenyan, Xu Ping, Yang |
Case report: A reciprocal translocation-free and pathogenic DUOX2 mutation-free embryo selected by complicated preimplantation genetic testing resulted in a healthy live birth. Frontiers in genetics 2023 3 14 1066199. Shi Biwei, Ye Yingh |
Neonatal Screening for Congenital Adrenal Hyperplasia in Indian Newborns with Reflex Genetic Analysis of 21-Hydroxylase Deficiency. International journal of neonatal screening 2023 3 9 (1): . Tippabathani Jayakrishna, Seenappa Venu, Murugan Alagupandian, Phani Nagaraja Mahishi, Hampe Mahesh H, Appaswamy Giridharan, Sadashiv Gambhir Praka |
[Genetic mutation profiles for children with congenital hypothyroidism in Fujian province]. Zhonghua yi xue za zhi 2023 2 103 (5): 336-343. Cheng F, Su Y Q, Wang X R, Wu F Y, Sun F, Fang Y, Zhang R J, Zhao S X, Song H |
Results of neonatal screening for congenital hypothyroidism and hyperphenylalaninemia in Zhejiang province from 1999 to 2022. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2023 12 1-10. Duo Zhou, Rulai Yang, Xinwen Huang, Xiaolei Huang, Xin Yang, Huaqing Mao, Jianbin Yang, Zhengyan Zh |
Frequency of Mutations in the TPO Gene in Patients with Congenital Hypothyroidism Due to Dyshormonogenesis in Chile. Medicina (Kaunas, Lithuania) 2024 7 60 (7): . María Clara Arteaga-Jacobo, Ángel Roco-Videla, Claudio Villota Arcos, Patricio González-Hormazábal, Víctor Gonzalo-Castro, María Virginia Pérez-Flor |
Genetic etiology in patients diagnosed with congenital hypothyroidism with new-generation sequencing: A single-center experience. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2024 7 . Emel Hatun Aytaç Kaplan, Serdar Merm |
Functional characterization of thyroid peroxidase missense variants causing thyroid dyshormonogenesis in Asian Indian population. Hormone research in paediatrics 2024 7 . Asodu Sandeep Sarma, Ankush Desai, Madhava Rao, Jaya Prakash Sahoo, Channabasappa Shivaprasad, Prajnya Ranganath, Pragna Lakshmi, Lorraine D'Sa, Ashwin Dal |
Molecular and Clinical Features of Congenital Hypothyroidism due to Multiple DUOX2 Variants. Thyroid : official journal of the American Thyroid Association 2024 5 . Erika Uehara, Kiyomi Abe, Kanako Tanase-Nakao, Koji Muroya, Atsushi Hattori, Keiko Matsubara, Maki Fukami, Satoshi Naru |
Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T knock-in model. JCI insight 2024 1 . Kristiina Makkonen, Meeri Jännäri, Luís Crisóstomo, Matilda Kuusi, Konrad Patyra, Vladyslav Melnyk, Veli M Linnossuo, Johanna O Ojala, Rowmika Ravi, Christoffer Löf, Juho-Antti Mäkelä, Päivi J Miettinen, Saila Laakso, Marja Ojaniemi, Jarmo Jääskeläinen, Markku Laakso, Filip Bossowski, Beata Sawicka, Karolina Sto?ek, Artur Bossowski, Gunnar Kleinau, Patrick Scheerer, Finngen Finngen, Mary Pat Reeve, Jukka Ke |
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