HuGE Literature Finder
Records 1-26
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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 |
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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 |
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Mutation screening of the TSHR gene in 220 Chinese patients with congenital hypothyroidism.
Clinica chimica acta; international journal of clinical chemistry 2019 Jul . Fang Ya, Sun Feng, Zhang Rui-Jia, Zhang Chang-Run, Yan Chen-Yan, Zhou Zheng, Zhang Qian-Yue, Li Lu, Ying Ying-Xiang, Zhao Shuang-Xia, Liang Jun, Song Huai-Do |
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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 |
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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 |
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Association between monoallelic TSHR mutations and congenital hypothyroidism: a Statistical approach.
European journal of endocrinology 2017 Nov . Abe Kiyomi, Narumi Satoshi, Suwanai Ayuko Suzuki, Adachi Masanori, Muroya Koji, Asakura Yumi, Nagasaki Keisuke, Abe Takayuki, Hasegawa Tomono |
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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 |
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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 |
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Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients.
Clinica chimica acta; international journal of clinical chemistry 2016 Sep 462 127-132. Fu Chunyun, Wang Jin, Luo Shiyu, Yang Qi, Li Qifei, Zheng Haiyang, Hu Xuyun, Su Jiasun, Zhang Shujie, Chen Rongyu, Luo Jingsi, Zhang Yue, Shen Yiping, Wei Hongwei, Meng Dahua, Gui Baoheng, Zeng Zhangqin, Fan Xin, Chen Shao |
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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 |
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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 |
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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 |
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Two novel TSHR gene mutations (p.R528C and c.392+4del4) associated with congenital hypothyroidism.
Endocrine research 2016 Feb 1-5. Qiu Ya-Li, Ma Shao-Gang, Liu Hong, Yue Hong- |
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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 |
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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 |
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Evaluation of the tshr gene reveals polymorphisms associated with typical symptoms in primary congenital hypothyroidism.
Journal of pediatric endocrinology & metabolism : JPEM 2015 Sep . Cortinhas Alves Erik Artur, Andrade Raissa Coelho, de Melo Amaral Carlos Eduardo, Fernandes Caldato Milena Coelho, Rocha Bastos Adriana Maria, da Silva Luiz Carlos Santa |
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Loss-of-Function Variants in a Hungarian Cohort Reveal Structural Insights on TSH Receptor Maturation and Signaling.
The Journal of clinical endocrinology and metabolism 2015 Jul 100 (7): E1039-45. Lábadi Árpád, Grassi Elisa Stellaria, Gellén Balázs, Kleinau Gunnar, Biebermann Heike, Ruzsa Beáta, Gelmini Giulia, Rideg Orsolya, Miseta Attila, Kovács Gábor L, Patócs Attila, Felszeghy Enik?, Nagy Endre V, Mez?si Emese, Persani Lu |
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R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children.
Clinica chimica acta; international journal of clinical chemistry 2012 Jun 413 (11-12): 1004-7. Chang Wei-Chiao, Liao Cheng-Yu, Chen Wei-Chiao, Fan Yung-Ching, Chiu Siou-Jin, Kuo Ho-Chang, Woon Peng-Yeong, Chao Mei-Ch |
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Molecular screening of the TSH receptor and Thyroid peroxidase (TPO) genes in Korean patients with non-syndromic congenital hypothyroidism.
Clinical endocrinology 2011 Jun . Lee ST, Lee DH, Kim JY, Kwon MJ, Kim JW, Hong YH, Lee YW, Ki CS |
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High frequency of D727E polymorphisms in exon 10 of the TSHR gene in Brazilian patients with congenital hypothyroidism.
Journal of pediatric endocrinology & metabolism : JPEM 2010 Dec 23 (12): 1321-8. Alves Erik A C, Cruz Cleber M, Pimentel Clebson P, Ribeiro Rita C M, Santos Andrea K C R, Caldato Milena C F, Santana-da-silva Luiz |
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Thyrotropin-stimulating hormone receptor gene analysis in pediatric patients with non-autoimmune subclinical hypothyroidism.
The Journal of clinical endocrinology and metabolism 2009 Nov 94 (11): 4187-94. Nicoletti Annalisa, Bal Milva, De Marco Giuseppina, Baldazzi Lilia, Agretti Patrizia, Menabò Soara, Ballarini Elisa, Cicognani Alessandro, Tonacchera Massimo, Cassio Alessand |
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TSHR mutations as a cause of congenital hypothyroidism in Japan: a population-based genetic epidemiology study.
The Journal of clinical endocrinology and metabolism 2009 Apr 94 (4): 1317-23. Narumi Satoshi, Muroya Koji, Abe Yoichiro, Yasui Masato, Asakura Yumi, Adachi Masanori, Hasegawa Tomono |
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Thyrotropin receptor and thyroid transcription factor-1 genes variant in Chinese children with congenital hypothyroidism.
Endocrine journal 2008 May 55 (2): 415-23. Yuan Zhe Feng, Mao Hua Qing, Luo Yan Fei, Wu Yi Dong, Shen Zheng, Zhao Zheng Y |
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[Thyrotropin receptor gene inactivating mutation in Chinese children with congenital hypothyroidism].
Zhonghua er ke za zhi. Chinese journal of pediatrics 2007 Jul 45 (7): 508-12. Yuan Zhe-feng, Luo Yan-fei, Wu Yi-dong, Shen Zheng, Zhao Zheng-y |
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Thyrotropin receptor gene mutations and TSH resistance: variable expressivity in the heterozygotes.
Clinical endocrinology 2005 Aug 63 (2): 146-51. Camilot Marta, Teofoli Francesca, Gandini Alberto, Franceschi Roberto, Rapa Anna, Corrias Andrea, Bona Gianni, Radetti Giorgio, Tatò Lucia |
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Polymorphisms in the TSHR (thyrotropin receptor) gene on chromosome 14q31 are not associated with mental retardation in the iodine-deficient areas of China.
Neuroscience letters 0 382 (1-2): 179-84. Guo Ting-Wei, Zhang Fu-Chang, Gao Jian-Jun, Bian Li, Gao Xiao-cai, Ma Jie, Yang Maosheng, Ji Qian, Duan Shi-wei, Zheng Zi-jian, Li Rui-lin, Feng Guo-yin, St Clair David, He L |
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- Page last updated:Aug 05, 2020
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