Human Genome Epidemiology Literature Finder
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Records 1 - 23 (of 23 Records) |
| Query Trace: Disease and DUOX2[original query] |
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| Genetic polymorphisms and susceptibility to lung disease. Journal of negative results in biomedicine 2006 5 (): 5. Lee Pauline L, West Carol, Crain Karen, Wang L |
| NOD2 status and human ileal gene expression. Inflammatory bowel diseases 2010 Oct 16 (10): 1649-57. Hamm Christina M, Reimers Melissa A, McCullough Casey K, Gorbe Elizabeth B, Lu Jianyun, Gu C Charles, Li Ellen, Dieckgraefe Brian K, Gong Qingqing, Stappenbeck Thaddeus S, Stone Christian D, Dietz David W, Hunt Steven |
| High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China. European journal of medical genetics 2016 Aug . Jiang Hong, Wu Jinhua, Ke Shengzhong, Hu Yue, Fei Anxing, Zhen Yan, Yu Jin, Zhu Kuich |
| 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 |
| Genetic Complexity of Crohn's Disease in Two Large Ashkenazi Jewish Families. Gastroenterology 2016 Jun . Levine Adam P, Pontikos Nikolas, Schiff Elena R, Jostins Luke, Speed Doug, , Lovat Laurence B, Barrett Jeffrey C, Grasberger Helmut, Plagnol Vincent, Segal Anthony |
| Next-generation sequencing analysis of DUOX2 in 192 Chinese subclinical congenital hypothyroidism (SCH) and CH patients. Clinica chimica acta; international journal of clinical chemistry 2016 Apr . Fu Chunyun, Luo Shiyu, Zhang Shujie, Wang Jin, Zheng Haiyang, Yang Qi, Xie Bobo, Hu Xuyun, Fan Xin, Luo Jingsi, Chen Rongyu, Su Jiasun, Shen Yiping, Gu Xuefan, Chen Shao |
| A genome-wide association study for equine recurrent airway obstruction in European Warmblood horses reveals a suggestive new quantitative trait locus on chromosome 13. Animal genetics 2017 7 48 (6): 691-693. Schnider D, Rieder S, Leeb T, Gerber V, Neuditschko |
| 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 |
| Mutational Spectrum Analysis of Seven Genes Associated with Thyroid Dyshormonogenesis. International journal of endocrinology 2018 8 2018 8986475. Chen Xi, Kong Xiaohong, Zhu Jie, Zhang Tingting, Li Yanwei, Ding Guifeng, Wang Huiju |
| Increased risk for inflammatory bowel disease in congenital hypothyroidism supports the existence of a shared susceptibility factor. Scientific reports 2018 Jul 8 (1): 10158. Grasberger Helmut, Noureldin Mohamed, Kao Timothy D, Adler Jeremy, Lee Joyce M, Bishu Shrinivas, El-Zaatari Mohamad, Kao John Y, Waljee Akbar |
| 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 |
| Genetic Variants Implicate Dual Oxidase-2 in Familial and Sporadic Nonmedullary Thyroid Cancer. Cancer research 2019 Sep . Bann Darrin V, Jin Qunyan, Sheldon Kathryn E, Houser Kenneth R, Nguyen Lan, Warrick Joshua I, Baker Maria J, Broach James R, Gerhard Glenn S, Goldenberg Dav |
| DUOX2 variants are a frequent cause of congenital primary hypothyroidism in Thai patients. Endocrine connections 2020 12 9 (11): 1121-1134. Sorapipatcharoen Kinnaree, Tim-Aroon Thipwimol, Mahachoklertwattana Pat, Chantratita Wasun, Iemwimangsa Nareenart, Sensorn Insee, Panthan Bhakbhoom, Jiaranai Poramate, Noojarern Saisuda, Khlairit Patcharin, Pongratanakul Sarunyu, Suprasongsin Chittiwat, Korwutthikulrangsri Manassawee, Sriphrapradang Chutintorn, Poomthavorn Preamrud |
| Analysis of Mutation Spectra of 28 Pathogenic Genes Associated With Congenital Hypothyroidism in the Chinese Han Population. Frontiers in endocrinology 2021 12 695426. Huang Miao, Lu Xiyan, Dong Guoqing, Li Jianxu, Chen Chengcong, Yu Qiuxia, Li Mingzhu, Su Yuey |
| 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 |
| 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 |
| Clinical and genetic investigation in patients with permanent congenital hypothyroidism. Clinica chimica acta; international journal of clinical chemistry 2022 11 539 1-6. Zhou Lingna, Liu Shuang, Long Wei, Wang Lei-Lei, Yu B |
| [A prospective study of genetic screening of 2 060 neonates by high-throughput sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 5 40 (6): 641-647. Danyan Zhuang, Fei Wang, Shuxia Ding, Zhoushu Zheng, Qi Yu, Lanqiu Lyu, Shuni Sun, Rulai Yang, Wenwen Que, Haibo |
| Case report: A reciprocal translocation-free and pathogenic DUOX2 mutation-free embryo selected by complicated preimplantation genetic testing resulted in a healthy live birth. Frontiers in genetics 2023 3 14 1066199. Shi Biwei, Ye Yingh |
| Genotype-Phenotype Correlations in Autosomal Dominant and Recessive APC Mutation-Negative Colorectal Adenomatous Polyposis. Digestive diseases and sciences 2023 3 . Zhu Li-Hua, Dong Jian, Li Wen-Liang, Kou Zhi-Yong, Yang J |
| Functional characterization of thyroid peroxidase missense variants causing thyroid dyshormonogenesis in Asian Indian population. Hormone research in paediatrics 2024 7 . Asodu Sandeep Sarma, Ankush Desai, Madhava Rao, Jaya Prakash Sahoo, Channabasappa Shivaprasad, Prajnya Ranganath, Pragna Lakshmi, Lorraine D'Sa, Ashwin Dal |
| Digenic Inheritance Mode in Congenital Hypothyroidism due to Thyroid Dysgenesis: HYPOTYGEN translational cohort study. The Journal of clinical endocrinology and metabolism 2025 1 . Athanasia Stoupa, Dulanjalee Kariyawasam, Fabienne Jabot-Hanin, Adrien Nguyen Quoc, Sylvain Hanein, Tioka Rabeony, Caroline Elie, Sandra Colas, Caroline Thalassinos, Isabelle Oliver-Petit, Muriel Houang, Régis Coutant, Pascal Barat, Marc Nicolino, Rachel Reynaud, Marc de Kerdanet, Candace Ben Signor, Sabine Baron, Catherine Raynaud-Ravni, Pierre-François Souchon, Juliane Léger, Mireille Castanet, Christine Bole-Feysot, Patrick Nitschke, Stanislas Lyonnet, Michel Polak, Aurore Car |
- Page last reviewed:Feb 1, 2024
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