PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Annals of Pediatric Endocrinology & Metabolism10.6065/apem.2018.23.4.2352018234235-239Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR geneWon Kyoung Cho, Moon-Bae Ahn, Woori Jang, Hyojin Chae, Myungshin Kim, Byung-Kyu Suhhttp://e-apem.org/upload/pdf/apem-2018-23-4-235.pdf, http://e-apem.org/journal/view.php?doi=10.6065/apem.2018.23.4.235, http://e-apem.org/upload/pdf/apem-2018-23-4-235.pdf
Acta Paediatrica10.1080/08035250600774122200695121685-1687Subclinical hyperthyroidism due to a thyrotropin receptor (TSHR) gene mutation (S505R)Joachim Pohlenz, Nicole Pfarr, Silvia Krüger, Volker Hessehttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1080%2F08035250600774122, http://onlinelibrary.wiley.com/wol1/doi/10.1080/08035250600774122/fullpdf
Journal of the Endocrine Society10.1210/js.2019-mon-26420193Supplement_1MON-264 Familial Neonatal Nonautoimmune Hyperthyroidism Due To A Thyrotropin Receptor Gene Mutation (A619G).Doris Taha, Amita Adhikari, Rajeev Thirunagari, Rajan Senguttuvan, Leigh Anne Florehttps://academic.oup.com/jes/article/doi/10.1210/js.2019-MON-264/5484661
Thyroid10.1089/thy.2000.10.85920001010859-863Sporadic Nonautoimmune Congenital Hyperthyroidism due to a Strong Activating Mutation of the Thyrotropin Receptor GeneM. Tonacchera, P. Agretti, V. Rosellini, G. Ceccarini, A. Perri, M. Zampolli, R. Longhi, D. Larizza, A. Pinchera, P. Vitti, L. Chiovatohttps://www.liebertpub.com/doi/pdf/10.1089/thy.2000.10.859
Thyroid10.1089/thy.1997.7.765199775765-770Congenital Nonautoimmune Hyperthyroidism in a Nonidentical Twin Caused by a Sporadic Germline Mutation in the Thyrotropin Receptor GenePETER KOPP, J. LARRY JAMESON, THOMAS F. ROEhttps://www.liebertpub.com/doi/pdf/10.1089/thy.1997.7.765
Journal of the Endocrine Society10.1210/js.2019-mon-26520193Supplement_1MON-265 Congenital Hypothyroidism and Bilateral Ptosis Due to a Novel TSHR Gene MutationAndreea Marinescu, Francesco De Luca, Elizabeth Suarezhttps://academic.oup.com/jes/article/doi/10.1210/js.2019-MON-265/5484671
Hormone Research in Paediatrics10.1159/0000893482005644203-208Long-Term Carbimazole Treatment of Neonatal Nonautoimmune Hyperthyroidism due to a New Activating TSH Receptor Gene Mutation (Ala428Val)Kirsten Börgel, Joachim Pohlenz, Hans G. Koch, Jurgen H. Bramswighttps://www.karger.com/Article/Pdf/89348, https://www.karger.com/Article/Pdf/89348
European Journal of Pediatrics10.1007/s00431-012-1702-z201217171133-1137Sporadic congenital nonautoimmune hyperthyroidism caused by P639S mutation in thyrotropin receptor genePatrizia Agretti, Giuseppina De Marco, Martina Biagioni, Antonio Iannilli, Marco Marigliano, Aldo Pinchera, Paolo Vitti, Valentino Cherubini, Massimo Tonaccherahttp://link.springer.com/content/pdf/10.1007/s00431-012-1702-z.pdf, http://link.springer.com/article/10.1007/s00431-012-1702-z/fulltext.html, http://link.springer.com/content/pdf/10.1007/s00431-012-1702-z
Clinical Endocrinology10.1111/j.1365-2265.2004.02040.x2004606711-718Premature birth and low birth weight associated with nonautoimmune hyperthyroidism due to an activating thyrotropin receptor gene mutationBijay Vaidya, Viv Campbell, John H. Tripp, Gill Spyer, Andrew T. Hattersley, Sian Ellardhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1365-2265.2004.02040.x, http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2265.2004.02040.x/fullpdf
Pediatric Research10.1038/pr.2014.342014756749-753A Japanese family with nonautoimmune hyperthyroidism caused by a novel heterozygous thyrotropin receptor gene mutationAkie Nakamura, Shuntaro Morikawa, Hayato Aoyagi, Katsura Ishizu, Toshihiro Tajimahttp://www.nature.com/articles/pr201434.pdf, http://www.nature.com/articles/pr201434, http://www.nature.com/articles/pr201434.pdf