Human Genome Epidemiology Literature Finder
Records 1 - 14 (of 14 Records) |
Query Trace: Syndrome and CASR[original query] |
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Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. Journal of medical genetics 2004 Mar 41 (3): 155-60. Warner J, Epstein M, Sweet A, Singh D, Burgess J, Stranks S, Hill P, Perry-Keene D, Learoyd D, Robinson B, Birdsey P, Mackenzie E, Teh B T, Prins J B, Cardinal |
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 |
Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population. Hypertension 2008 Jun 51 (6): 1658-64. Tobin Martin D, Tomaszewski Maciej, Braund Peter S, Hajat Cother, Raleigh Stuart M, Palmer Thomas M, Caulfield Mark, Burton Paul R, Samani Nilesh |
Influence of gene variants related to calcium homeostasis on biochemical parameters of women with polycystic ovary syndrome. Journal of assisted reproduction and genetics 2011 Mar 28 (3): 225-32. Ranjzad Fariba, Mahban Aidin, Shemirani Atena Irani, Mahmoudi Touraj, Vahedi Mohsen, Nikzamir Abdolrahim, Zali Mohammad Re |
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 |
No association between the common calcium-sensing receptor polymorphism rs1801725 and irritable bowel syndrome. BMC medical genetics 2015 16 (1): 110. Romero Philipp, Schmitteckert Stefanie, Wouters Mira M, Houghton Lesley A, Czogalla Bastian, Sayuk Gregory S, Boeckxstaens Guy E, Guenther Patrick, Holland-Cunz Stefan, Niesler Bea |
Primary hyperparathyroidism in young patients in Russia: high frequency of hyperparathyroidism-jaw tumor syndrome. Endocrine connections 2017 9 6 (8): 557-565. Mamedova Elizaveta, Mokrysheva Natalya, Vasilyev Evgeny, Petrov Vasily, Pigarova Ekaterina, Kuznetsov Sergey, Kuznetsov Nikolay, Rozhinskaya Liudmila, Melnichenko Galina, Dedov Ivan, Tiulpakov Anato |
Autoantibodies against the calcium-sensing receptor and cytokines in autoimmune polyglandular syndromes types 2, 3 and 4. Clinical endocrinology 2017 9 88 (1): 139-145. Kemp E Helen, Kahaly George J, Porter Julie A, Frommer Lara, Weetman Anthony |
Mutational and large deletion study of genes implicated in hereditary forms of primary hyperparathyroidism and correlation with clinical features. PloS one 2017 10 12 (10): e0186485. Pardi Elena, Borsari Simona, Saponaro Federica, Bogazzi Fausto, Urbani Claudio, Mariotti Stefano, Pigliaru Francesca, Satta Chiara, Pani Fabiana, Materazzi Gabriele, Miccoli Paolo, Grantaliano Lorena, Marcocci Claudio, Cetani Filome |
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 |
[Analysis of genes related to hypothyroidism during pregnancy]. Zhonghua yi xue za zhi 2019 11 99 (42): 3350-3354. Liang L, Mao Y, Zhang J R, Zhang S C, Yang H |
Whole genome sequencing of apparently mutation-negative MEN1 patients. European journal of endocrinology 2019 10 182 (1): 35-45. Backman Samuel, Bajic Duska, Crona Joakim, Hellman Per, Skogseid Britt, Stålberg Pet |
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 |
Clinical and genetic evaluation of children with short stature of unknown origin. BMC medical genomics 2023 8 16 (1): 194. Qianqian Zhao, Yanying Li, Qian Shao, Chuanpeng Zhang, Shuang Kou, Wanling Yang, Mei Zhang, Bo B |
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- Page last updated:Apr 22, 2024
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