Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: Congenital Hypothyroidism and SLC26A4[original query] |
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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 |
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 screening of the SLC26A4 gene in a cohort of 192 Chinese patients with congenital hypothyroidism. Archives of endocrinology and metabolism 2016 Feb . Fu Chunyun, Zheng Haiyang, Zhang Shujie, Chen Yun, Su Jiasun, Wang Jin, Xie Bobo, Hu Xuyun, Fan Xin, Luo Jingsi, Li Chuan, Chen Rongyu, Shen Yiping, Chen Shao |
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 |
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 |
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 |
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 |
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 |
Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism. The Journal of clinical endocrinology and metabolism 2021 10 107 (3): e1263-e1276. Albader Najla, Zou Minjing, BinEssa Huda A, Abdi Saba, Al-Enezi Anwar F, Meyer Brian F, Alzahrani Ali S, Shi Yuf |
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 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 |
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- Page last updated:Apr 29, 2024
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