Human Genome Epidemiology Literature Finder
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Records 1 - 10 (of 10 Records) |
| Query Trace: Hypocalcemia and CASR[original query] |
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| Identification of a novel calcium-sensing receptor gene mutation causing familial hypocalciuric hypercalcemia by single-strand conformation polymorphism analysis. Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association 2005 1 113 (1): 31-4. Felderbauer P, Hoffmann P, Klein W, Bulut K, Ansorge N, Epplen J T, Schmitz F, Schmidt W |
| Calcium-sensing receptor gene A986S polymorphism and bone mass in hypertensive women. Archives of medical research 2006 Jul 37 (5): 607-11. Pérez-Castrillón José Luis, Sanz Alberto, Silva Jesús, Justo Isabel, Velasco Eladio, Dueñas Anton |
| Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. Journal of molecular endocrinology 2009 Apr 42 (4): 331-9. Cole David E C, Yun Francisco H J, Wong Betty Y L, Shuen Andrew Y, Booth Ronald A, Scillitani Alfredo, Pidasheva Svetlana, Zhou Xiang, Canaff Lucie, Hendy Geoffrey |
| 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 |
| 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, |
| Rare diseases caused by abnormal calcium sensing and signalling. Endocrine 2021 2 71 (3): 611-617. T?ke Judit, Czirják Gábor, Enyedi Péter, Tóth Mikl |
| GNA11 variants identified in patients with hypercalcemia or hypocalcemia. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2023 3 . Howles Sarah A, Gorvin Caroline M, Cranston Treena, Rogers Angela, Gluck Anna K, Boon Hannah, Gibson Kate, Rahman Mushtaqur, Root Allen, Nesbit M Andrew, Hannan Fadil M, Thakker Rajesh |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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