Records 1 - 27
| Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1, and SLC26A7.
Journal of endocrinological investigation 2021 Nov .
Acar S, Gürsoy S, Arslan G, Nalbanto?lu Ö, Hazan F, Köprülü Ö, Özkaya B, Özkan
| 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
| Newborn screening and single nucleotide variation profiling of TSHR, TPO, TG and DUOX2 candidate genes for congenital hypothyroidism.
Molecular biology reports 2020 Sep .
Kollati Yedukondalu, Akella Radha Rama Devi, Naushad Shaik Mohammad, Borkar Divya, Thalla Maunika, Nagalingam Swapna, Lingappa Lokesh, Patel Rajesh K, Reddy G Bhanuprakash, Dirisala Vijaya
| 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
| Novel non-synonymous mutations of PAX8 in a cohort of Chinese with congenital hypothyroidism.
Chinese medical journal 2019 Mar .
Qian Fang, Li Gui-Yu, Wu Xiang-Jun, Jia Qin, Lyu Guan-Ting, Wang Man-Li, Wang J
| 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
| 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
| 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
| 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
| Mutation screening of the TPO gene in a cohort of 192 Chinese patients with congenital hypothyroidism.
BMJ open 2016 6 (5): e010719.
Fu Chunyun, Xie Bobo, Zhang Shujie, Wang Jin, Luo Shiyu, Zheng Haiyang, Su Jiasun, Hu Xuyun, Chen Rongyu, Fan Xin, Luo Jingsi, Gu Xuefan, Chen Shao
| [Association of thyroperoxidase gene polymorphisms with dyshormonogenesis in congenital hypothyroidism].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2015 Dec 32 (6): 861-5.
Su Yueqing, Wang Jing, Zhou Jinfu, Chen Yao, Zhao Hong, Zeng Yinglin, Lin Feng, Zhang Honghua, Zhu Wenbin, Chen Hanqia
| 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
| The Missense Alteration A5T of the Thyroid Peroxidase Gene is Pathogenic and Associated with Mild Congenital Hypothyroidism.
Journal of clinical research in pediatric endocrinology 2015 Sep 7 (3): 238-41.
Cangül Hakan, Demir Korcan, Babayi?it H Ömür, Abac? Ayhan, Böber E
| 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
| Prevalence of c.2268dup and detection of two novel alterations, c.670_672del and c.1186C>T, in the TPO gene in a cohort of Malaysian-Chinese with thyroid dyshormonogenesis.
BMJ open 2015 5 (1): e006121.
Lee Ching Chin, Harun Fatimah, Jalaludin Muhammad Yazid, Heh Choon Han, Othman Rozana, Junit Sarni M
| Genotypes and phenotypes of congenital goitre and hypothyroidism caused by mutations in dual oxidase 2 genes.
Clinical endocrinology 2014 Sep 81 (3): 452-7.
Wang Fang, Lu Kunna, Yang Zhifeng, Zhang Shasha, Lu Wei, Zhang Liqin, Liu Shiguo, Yan Sheng
| TPO genetic variants and risk of differentiated thyroid carcinoma in two European populations.
International journal of cancer. Journal international du cancer 2013 Dec 133 (12): 12.
Cipollini M, Pastor S, Gemignani F, Castell J, Garritano S, Bonotti A, Biarnés J, Figlioli G, Romei C, Marcos R, Cristaudo A, Elisei R, Landi S, Velázquez A
| Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients.
The Journal of clinical endocrinology and metabolism 2011 Nov 96 (11): E1838-42.
Narumi Satoshi, Muroya Koji, Asakura Yumi, Aachi Masanori, Hasegawa Tomono
| [Mutation of thyroid peroxidase gene in 35 patients with congenital hypothyroidism].
Zhonghua er ke za zhi. Chinese journal of pediatrics 2011 Aug 49 (8): 626-30.
Li Hai-fei, Liu Yi-xin, Xie Jian-sheng, Chen Bin, Li Su-
| Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism.
Clinical endocrinology 2011 Jun .
Lee ST, Lee DH, Kim JY, Kwon MJ, Kim JW, Hong YH, Lee YW, Ki CS
| Characterization of mutations in the FOXE1 gene in a cohort of unrelated Malaysian patients with congenital hypothyroidism and thyroid dysgenesis.
Biochemical genetics 2010 Feb 48 (1-2): 141-51.
Kang In-Nee, Musa Maslinda, Harun Fatimah, Junit Sarni M
| High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis.
European journal of endocrinology / European Federation of Endocrine Societies 2007 May 156 (5): 511-9.
Avbelj Magdalena, Tahirovic Husref, Debeljak Marusa, Kusekova Maria, Toromanovic Alma, Krzisnik Ciril, Battelino Tad
| Genotype-phenotype correlations of dyshormonogenetic goiter in children and adolescents from South India.
Indian journal of endocrinology and metabolism 0 20 (6): 816-824.
Ramesh Bangaraiah Gari, Bhargav Panchangam Ramakanth, Rajesh Bangaraiah Gari, Devi Nangedda Vimala, Vijayaraghavan Rajagopalan, Varma Bhongir Apar