HuGE Literature Finder
Records 1-9
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 |
Mutation spectrum analysis of 29 causative genes in 43 Chinese patients with congenital hypothyroidism.
Molecular medicine reports 2020 Apr . Wang Huijuan, Kong Xiaohong, Pei Yanrui, Cui Xuemei, Zhu Yijie, He Zixuan, Wang Yanxia, Zhang Lirong, Zhuo Lixia, Chen Chao, Yan Xiao |
Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ.
The Journal of clinical endocrinology and metabolism 2016 Aug jc20161879. Nicholas A K, Serra E G, Cangul H, Alyaarubi S, Ullah I, Schoenmakers E, Deeb A, Habeb A M, AlMaghamsi M, Peters C, Nathwani N, Aycan Z, Saglam H, Bober E, Dattani M, Shenoy S, Murray P G, Babiker A, Willemsen R, Thankamony A, Lyons G, Irwin R, Padidela R, Tharian K, Davies J H, Puthi V, Park S-M, Massoud A F, Gregory J W, Albanese A, Pease-Gevers E, Martin H, Brugger K, Maher E R, Chatterjee K, Anderson C A, Schoenmakers |
High prevalence of DUOX2 mutations in Japanese patients with permanent congenital hypothyroidism or transient hypothyroidism.
Journal of pediatric endocrinology & metabolism : JPEM 2016 May . Matsuo Kumihiro, Tanahashi Yusuke, Mukai Tokuo, Suzuki Shigeru, Tajima Toshihiro, Azuma Hiroshi, Fujieda Ken |
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 |
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 |
Novel c.554+5C>T Mutation in the DUOXA2 gene Combinated with p.R885Q Mutation in the DUOX2 Gene Causes Congenital Hypothyroidism.
Journal of clinical research in pediatric endocrinology 2015 Dec . Zheng Xiao, Ma Shao Gang, Qiu Ya Li, Guo Man Li, Shao Xiao Ju |
Novel genetic variants in the TPO gene cause congenital hypothyroidism.
Scandinavian journal of clinical and laboratory investigation 2015 Jul 1-5. Ma Shao-Gang, Qiu Ya-Li, Zhu Hong, Liu Hong, Li Qing, Ji Chun-M |
A novel dual oxidase maturation factor 2 gene mutation for congenital hypothyroidism.
International journal of molecular medicine 2012 Dec . Yi RH, Zhu WB, Yang LY, Lan L, Chen Y, Zhou JF, Wang J, Su YQ |
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- Page last updated:Jan 19, 2021
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