Human Genome Epidemiology Literature Finder
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Records 1 - 27 (of 27 Records) |
| Query Trace: Disease and PAX8[original query] |
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| Mutations in TAZ/WWTR1, a co-activator of NKX2.1 and PAX8 are not a frequent cause of thyroid dysgenesis. Journal of endocrinological investigation 2009 Mar 32 (3): 3. Ferrara AM, De Sanctis L, Rossi G, Capuano S, Del Prete G, Zampella E, Gianino P, Corrias A, Fenzi G, Zannini M, Macchia PE |
| Screening of PAX8 mutations in Chinese patients with congenital hypothyroidism. Journal of endocrinological investigation 2012 Nov 35 (10): 889-92. Liu S G, Zhang S S, Zhang L Q, Li W J, Zhang A Q, Lu K N, Wang M J, Yan S L, Ma |
| Mutation profile of differentiated thyroid tumours in an Australian urban population. Internal medicine journal 2014 Aug 44 (8): 727-34. Mond M, Alexiadis M, Fuller P J, Gilfillan |
Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study.
Molecular psychiatry 2015 Oct 20 (10): 1232-9. Gottlieb D J, Hek K, Chen T-H, Watson N F, Eiriksdottir G, Byrne E M, Cornelis M, Warby S C, Bandinelli S, Cherkas L, Evans D S, Grabe H J, Lahti J, Li M, Lehtimäki T, Lumley T, Marciante K D, Pérusse L, Psaty B M, Robbins J, Tranah G J, Vink J M, Wilk J B, Stafford J M, Bellis C, Biffar R, Bouchard C, Cade B, Curhan G C, Eriksson J G, Ewert R, Ferrucci L, Fülöp T, Gehrman P R, Goodloe R, Harris T B, Heath A C, Hernandez D, Hofman A, Hottenga J-J, Hunter D J, Jensen M K, Johnson A D, Kähönen M, Kao L, Kraft P, Larkin E K, Lauderdale D S, Luik A I, Medici M, Montgomery G W, Palotie A, Patel S R, Pistis G, Porcu E, Quaye L, Raitakari O, Redline S, Rimm E B, Rotter J I, Smith A V, Spector T D, Teumer A, Uitterlinden A G, Vohl M-C, Widen E, Willemsen G, Young T, Zhang X, Liu Y, Blangero J, Boomsma D I, Gudnason V, Hu F, Mangino M, Martin N G, O'Connor G T, Stone K L, Tanaka T, Viikari J, Gharib S A, Punjabi N M, Räikkönen K, Völzke H, Mignot E, Tiemeier |
| Identification of a novel germline FOXE1 variant in patients with familial non-medullary thyroid carcinoma (FNMTC). Endocrine 2015 May 49 (1): 204-14. Pereira Joana S, da Silva Joana Gomes, Tomaz Rute Alexandra, Pinto António Evaristo, Bugalho Maria João, Leite Valeriano, Cavaco Branca Mar |
| Genetic Alterations in Hungarian Patients with Papillary Thyroid Cancer. Pathology oncology research : POR 2015 Aug . Tobiás Bálint, Halászlaki Csaba, Balla Bernadett, Kósa János P, Árvai Kristóf, Horváth Péter, Takács István, Nagy Zsolt, Horváth Evelin, Horányi János, Járay Balázs, Székely Eszter, Székely Tamás, Gy?ri Gabriella, Putz Zsuzsanna, Dank Magdolna, Valkusz Zsuzsanna, Vasas Béla, Iványi Béla, Lakatos Pét |
| Tumor genotype determines phenotype and disease-related outcomes in thyroid cancer: a study of 1510 patients. Annals of surgery 2015 Sep 262 (3): 519-25. Yip Linwah, Nikiforova Marina N, Yoo Jenny Y, McCoy Kelly L, Stang Michael T, Armstrong Michaele J, Nicholson Kristina J, Ohori N Paul, Coyne Christopher, Hodak Steven P, Ferris Robert L, LeBeau Shane O, Nikiforov Yuri E, Carty Sally |
| Genome-wide significant risk associations for mucinous ovarian carcinoma.
Nature genetics 2015 Aug 47 (8): 888-97. , , |
| 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 |
| Genome-wide association analyses of sleep disturbance traits identify new loci and highlight shared genetics with neuropsychiatric and metabolic traits.
Nature genetics 2017 Feb 49 (2): 274-281. Lane Jacqueline M, Liang Jingjing, Vlasac Irma, Anderson Simon G, Bechtold David A, Bowden Jack, Emsley Richard, Gill Shubhroz, Little Max A, Luik Annemarie I, Loudon Andrew, Scheer Frank A J L, Purcell Shaun M, Kyle Simon D, Lawlor Deborah A, Zhu Xiaofeng, Redline Susan, Ray David W, Rutter Martin K, Saxena Ric |
| Changes in the clinicopathological characteristics and genetic alterations of follicular thyroid cancer. European journal of endocrinology 2017 Sep . Song Young Shin, Lim Jung Ah, Min Hye Sook, Kim Min Joo, Choi Hoon Sung, Cho Sun Wook, Moon Jae Hoon, Yi Ka Hee, Park Do Joon, Cho Bo Youn, Park Young J |
| Identification and characterization of novel PAX8 mutations in Congenital Hypothyroidism(CH) in a Chinese population. Oncotarget 2017 1 8 (5): 8707-8716. Liu Shiguo, Wang Xueqin, Zou Hui, Ge Yinlin, Wang Fang, Wang Yangang, Yan Shengli, Xia Hongfei, Xing Mingzh |
| 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 |
| Long non-coding RNA PAX8-AS1 polymorphisms increase the risk of childhood acute lymphoblastic leukemia. Biomedical reports 2018 Feb 8 (2): 184-190. Bahari Gholamreza, Hashemi Mohammad, Naderi Majid, Sadeghi-Bojd Simin, Taheri Mohs |
| Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism. Journal of pediatric endocrinology & metabolism : JPEM 2019 8 32 (11): 1265-1273. Santos-Silva Rita, Rosário Marta, Grangeia Ana, Costa Carla, Castro-Correia Cíntia, Alonso Isabel, Leão Miguel, Fontoura Manu |
| Rethinking Malignancy Risk in Indeterminate Thyroid Nodules with Positive Molecular Studies: Southern California Permanente Experience. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2019 Apr 194599819842859. Cohen David S, Tongson-Ignacio Jane E, Lolachi Christopher M, Ghaderi Vanessa S, Jahan-Parwar Babak, Thompson Lester D |
| Molecular Modelling of Islet ?-Cell Adaptation to Inflammation in Pregnancy and Gestational Diabetes Mellitus. International journal of molecular sciences 2019 12 20 (24): . Lorenzo Petra I, Martín-Montalvo Alejandro, Cobo Vuilleumier Nadia, Gauthier Benoit |
| Female adnexal tumors of probable Wolffian origin: morphological, immunohistochemical, and molecular analysis of 15 cases. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2019 10 33 (4): 734-747. Bennett Jennifer A, Ritterhouse Lauren L, Furtado Larissa V, Lastra Ricardo R, Pesci Anna, Newell Jordan M, Burandt Eike, Kooreman Loes, Van de Vijver Koen, Krausz Thomas, Felix Ana, Zannoni Gian Franco, Young Robert H, Oliva Esth |
| 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 |
| Therapeutic options for mucinous ovarian carcinoma. Gynecologic oncology 2020 Jan . Gorringe Kylie L, Cheasley Dane, Wakefield Matthew J, Ryland Georgina L, Allan Prue E, Alsop Kathryn, Amarasinghe Kaushalya C, Ananda Sumitra, Bowtell David D L, Christie Michael, Chiew Yoke-Eng, Churchman Michael, DeFazio Anna, Fereday Sian, Gilks C Blake, Gourley Charlie, Hadley Alison M, Hendley Joy, Hunter Sally M, Kaufmann Scott H, Kennedy Catherine J, Köbel Martin, Le Page Cecile, Li Jason, Lupat Richard, McNally Orla M, McAlpine Jessica N, Pyman Jan, Rowley Simone M, Salazar Carolina, Saunders Hugo, Semple Timothy, Stephens Andrew N, Thio Niko, Torres Michelle C, Traficante Nadia, Zethoven Magnus, Antill Yoland C, Campbell Ian G, Scott Clare |
| PAX8 expression and TERT promoter mutations in the nested variant of urothelial carcinoma: a clinicopathologic study with immunohistochemical and molecular correlates. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2020 1 33 (6): 1165-1171. Taylor Alexander S, McKenney Jesse K, Osunkoya Adeboye O, Chan May P, Al-Ahmadie Hikmat A, Spratt Daniel E, Fullen Douglas R, Chinnaiyan Arul M, Brown Noah A, Mehra Roh |
| Association of genomic variants at PAX8 and PBX2 with cervical cancer risk. International journal of cancer 2021 4 . Ramachandran Dhanya, Wang Yingying, Schürmann Peter, Hülse Fabienne, Mao Qianqian, Jentschke Matthias, Böhmer Gerd, Strauß Hans-Georg, Hirchenhain Christine, Schmidmayr Monika, Müller Florian, Runnebaum Ingo, Hein Alexander, Koch Martin, Ruebner Matthias, Beckmann Matthias W, Fasching Peter A, Luyten Alexander, Dürst Matthias, Hillemanns Peter, Dörk Thi |
| Molecular and clinical characteristics of congenital hypothyroidism in a large cohort study based on comprehensive thyroid transcription factor mutation screening in Henan. Clinica chimica acta; international journal of clinical chemistry 2021 3 518 162-169. Li Liangshan, Jia Chenlu, Li Xiaole, Wang Fang, Wang Yangang, Chen Yanping, Liu Shiguo, Zhao Deh |
| 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 |
| Molecular pathology and clinical treatment of independent HPV primary serous carcinoma of the uterine cervix (USCC): A case report. Clinical case reports 2023 9 11 (9): e7833. Lina Niu, Fangying Ruan, Qisheng Yang, Chaoran Xia, Tao Xu, Fei Dong, Lizhen Zhang, Sheng Guo, Weiqin Lv, Junxia Wang, Yun Sha |
| A comparison of the histopathologic features of thyroid carcinomas with NTRK fusions to those with other malignant fusions. Human pathology 2024 6 149 29-38. I Tondi Resta, A Rind, K T Montone, V A Livolsi, Z W Balo |
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