HuGE Literature Finder
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| Genetic Evaluation of Congenital Hypothyroidism with Gland in situ Using Targeted Exome Sequencing. Annals of clinical and laboratory science 2021 Jan 51 (1): 73-81. Shin Jung Hyun, Kim Hye Young, Kim Young Mi, Lee Heirim, Bae Mi Hye, Park Kyung Hee, Lee Sae-Mi, Kwak Min Ju |
| 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 |
| High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis. Frontiers in endocrinology 2020 11 545339. Stoupa Athanasia, Al Hage Chehade Ghada, Chaabane Rim, Kariyawasam Dulanjalee, Szinnai Gabor, Hanein Sylvain, Bole-Feysot Christine, Fourrage Cécile, Nitschke Patrick, Thalassinos Caroline, Pinto Graziella, Mnif Mouna, Baron Sabine, De Kerdanet Marc, Reynaud Rachel, Barat Pascal, Hachicha Mongia, Belguith Neila, Polak Michel, Carré Auro |
| 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 |
| A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing 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:May 20, 2022
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