Human Genome Epidemiology Literature Finder
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Records 1 - 15 (of 15 Records) |
| Query Trace: Hypoparathyroidism and PTH[original query] |
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| Parathyroid hormone gene polymorphism and sporadic idiopathic hypoparathyroidism. The Journal of clinical endocrinology and metabolism 2004 Oct 89 (10): 4840-5. Goswami Ravinder, Mohapatra Trilochan, Gupta Nandita, Rani Rajni, Tomar Neeraj, Dikshit Anupam, Sharma Ram Kum |
| Mutational analysis of GCMB, a parathyroid-specific transcription factor, in parathyroid adenoma of primary hyperparathyroidism. The Journal of endocrinology 2011 Aug 210 (2): 165-71. Mannstadt Michael, Holick Emily, Zhao Wenping, Jüppner Hara |
| Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study. Journal of Korean medical science 2013 Oct 28 (10): 1489-95. Park So Young, Eom Young Sil, Choi Byoungho, Yi Hyon-Seung, Yu Seung-Hee, Lee Kiyoung, Jin Hyun-Seok, Chung Yoon-Sok, Jung Tae Sik, Lee Siho |
| Comprehensive next-generation sequencing analyses of hypoparathyroidism: identification of novel GCM2 mutations. The Journal of clinical endocrinology and metabolism 2014 Nov 99 (11): E2421-8. Mitsui Toshikatsu, Narumi Satoshi, Inokuchi Mikako, Nagasaki Keisuke, Nakazawa Mie, Sasaki Goro, Hasegawa Tomono |
| Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidism. The Journal of clinical endocrinology and metabolism 2014 Mar 99 (3): E469-73. Lambert Anne-Sophie, Grybek Virginie, Francou Bruno, Esterle Laure, Bertrand Guylène, Bouligand Jérôme, Guiochon-Mantel Anne, Hieronimus Sylvie, Voitel Dorit, Soskin Sylvie, Magdelaine Corinne, Lienhardt Anne, Silve Caroline, Linglart Agn |
| [A genomic study of adult-onset idiopathic hypoparathyroidism in Chinese by targeted next-generation sequencing]. Zhonghua nei ke za zhi 2016 Aug 55 (8): 604-8. Li Y P, Wang O, Quan T T, Xia W B, Jiang Y, Li M, Meng X W, Xing X |
| Homozygous Calcium-Sensing Receptor Polymorphism R544Q Presents as Hypocalcemic Hypoparathyroidism. The Journal of clinical endocrinology and metabolism 2018 5 103 (8): 2879-2888. Cavaco Branca M, Canaff Lucie, Nolin-Lapalme Alexis, Vieira Margarida, Silva Tiago N, Saramago Ana, Domingues Rita, Rutter Meilan M, Hudon Jonathan, Gleason James L, Leite Valeriano, Hendy Geoffrey |
| Effects of genetic variants on serum parathyroid hormone in hyperparathyroidism and end-stage renal disease patients: A systematic review and meta-analysis. Medicine 2018 May 97 (21): e10834. Matana Antonela, Popovi? Marijana, Torlak Vesela, Punda Ante, Barbali? Maja, Zemunik Tatija |
| Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study. European journal of endocrinology 2018 11 180 (1): 59-70. García-Castaño Alejandro, Madariaga Leire, Pérez de Nanclares Gustavo, Ariceta Gema, Gaztambide Sonia, Castaño Lu |
| Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2019 8 34 (12): 2254-2263. Wang Yabing, Nie Min, Wang Ou, Li Yuepeng, Jiang Yan, Li Mei, Xia Weibo, Xing Xiaopi |
| Treatment of Autosomal Dominant Hypocalcemia Type 1 With the Calcilytic NPSP795 (SHP635). Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2019 5 34 (9): 1609-1618. Roberts Mary Scott, Gafni Rachel I, Brillante Beth, Guthrie Lori C, Streit Jamie, Gash David, Gelb Jeff, Krusinska Eva, Brennan Sarah C, Schepelmann Martin, Riccardi Daniela, Bin Khayat Mohd Ezuan, Ward Donald T, Nemeth Edward F, Rosskamp Ralf, Collins Michael |
| CLINICAL AND GENETIC FINDINGS IN A CHINESE COHORT OF PATIENTS WITH DIGEORGE SYNDROME-RELATED HYPOPARATHYROIDISM. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2020 2 26 (6): 642-650. Wang Yabing, Wang Ou, Nie Min, Li Yuepeng, Jiang Yan, Li Mei, Xia Weibo, Xing Xiaopi |
| Therapy with PTH 1-34 or calcitriol and calcium in diverse etiologies of hypoparathyroidism over 27 years at a single tertiary care center. Bone 2021 5 149 115977. Winer Karen K, Ye Shangyuan, Ferré Elise M N, Schmitt Monica M, Zhang Bo, Cutler Gordon B, Lionakis Michail |
| Novel Glial Cells Missing-2 (GCM2) variants in parathyroid disorders. European journal of endocrinology 2022 1 186 (3): 351-366. Canaff Lucie, Guarnieri Vito, Kim Yoojung, Wong Betty Y L, Nolin-Lapalme Alexis, Cole David E C, Minisola Salvatore, Eller-Vainicher Cristina, Cetani Filomena, Repaci Andrea, Turchetti Daniela, Corbetta Sabrina, Scillitani Alfredo, Goltzman Dav |
| Clinical and genetic characteristics of hypoparathyroidism in children: a multicenter experience in China. Journal of endocrinological investigation 2024 11 . Yingxiao Shen, Wei Yang, Qin He, Xiaoqin Xu, Yan Sun, Zhihua Wang, Xiaohong Yang, Guanping Dong, Ke Huang, Haiyan Wei, Wei Wu, Junfen |
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