Human Genome Epidemiology Literature Finder
Records 1 - 15 (of 15 Records) |
Query Trace: Hypoparathyroidism and CASR[original query] |
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Association between total serum calcium and the A986S polymorphism of the calcium-sensing receptor gene. Molecular genetics and metabolism 2001 Feb 72 (2): 168-74. Cole D E, Vieth R, Trang H M, Wong B Y, Hendy G N, Rubin L |
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 |
Prevalence of calcium sensing receptor autoantibodies in patients with sporadic idiopathic hypoparathyroidism. European journal of endocrinology 2004 1 150 (1): 9-18. Goswami Ravinder, Brown Edward M, Kochupillai Narayana, Gupta Nandita, Rani Rajni, Kifor Olga, Chattopadhyay Naibed |
Multiplex ligation-dependent probe amplification (MLPA) screening for exon copy number variation in the calcium sensing receptor gene: no large rearrangements identified in patients with calcium metabolic disorders. Clinical endocrinology 2010 Jun 72 (6): 758-62. Nissen Peter H, Christensen Signe E, Wallace Andrew, Heickendorff Lene, Brixen Kim, Mosekilde Le |
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 |
De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism. Annals of pediatric endocrinology & metabolism 2018 7 23 (2): 107-111. Moon Jung-Eun, Lee Su-Jeong, Park Suk-Hyun, Kim Jinsup, Jin Dong-Kyu, Ko Cheol W |
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 |
Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population. American journal of human genetics 2020 5 106 (6): 734-747. Dershem Ridge, Gorvin Caroline M, Metpally Raghu P R, Krishnamurthy Sarathbabu, Smelser Diane T, Hannan Fadil M, Carey David J, Thakker Rajesh V, Breitwieser Gerda E, |
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 |
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- Page last updated:Apr 22, 2024
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