Human Genome Epidemiology Literature Finder
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Records 1 - 22 (of 22 Records) |
| Query Trace: Hypercalcemia 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 |
| 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 |
| Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population. The Journal of clinical endocrinology and metabolism 2007 Nov 92 (11): 4373-9. Nissen Peter H, Christensen Signe E, Heickendorff Lene, Brixen Kim, Mosekilde Le |
| 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 |
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
Human molecular genetics 2010 Nov 19 (21): 4296-303. O'Seaghdha Conall M, Yang Qiong, Glazer Nicole L, Leak Tennille S, Dehghan Abbas, Smith Albert V, Kao W H Linda, Lohman Kurt, Hwang Shih-Jen, Johnson Andrew D, Hofman Albert, Uitterlinden Andre G, Chen Yii-Der Ida, , Brown Edward M, Siscovick David S, Harris Tamara B, Psaty Bruce M, Coresh Josef, Gudnason Vilmundur, Witteman Jacqueline C, Liu Yong Mei, Kestenbaum Bryan R, Fox Caroline S, Köttgen An |
| Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years. The Journal of clinical endocrinology and metabolism 2010 Apr 95 (4): 1819-29. Guarnieri Vito, Canaff Lucie, Yun Francisco H J, Scillitani Alfredo, Battista Claudia, Muscarella Lucia A, Wong Betty Y L, Notarangelo Angelantonio, D'Agruma Leonardo, Sacco Michele, Cole David E C, Hendy Geoffrey |
| Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations. The Journal of clinical endocrinology and metabolism 2014 Jul 99 (7): E1311-5. Hendy Geoffrey N, Canaff Lucie, Newfield Ron S, Tripto-Shkolnik Liana, Wong Betty Y L, Lee Bonnie S P, Cole David E |
| Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype. European journal of endocrinology / European Federation of Endocrine Societies 2016 Nov 175 (5): 421-31. Glaudo Markus, Letz Saskia, Quinkler Marcus, Bogner Ulrich, Elbelt Ulf, Strasburger Christian J, Schnabel Dirk, Lankes Erwin, Scheel Sandra, Feldkamp Joachim, Haag Christine, Schulze Egbert, Frank-Raue Karin, Raue Friedhelm, Mayr Bernhard, Schöfl Christ |
| Pharmacogenetic analysis of cinacalcet response in secondary hyperparathyroidism patients. Drug design, development and therapy 2016 10 2211-25. Jeong Sohyun, Kim In-Wha, Oh Kook-Hwan, Han Nayoung, Joo Kwon Wook, Kim Hyo Jin, Oh Jung |
| The cardiovascular system in familial hypocalciuric hypercalcemia: a cross-sectional study on physiological effects of inactivating variants in the calcium-sensing receptor gene. European journal of endocrinology / European Federation of Endocrine Societies 2016 Jul . Jakobsen Niels Frederik Breum, Laugesen Esben, Rolighed Lars, Nissen Peter H, Poulsen Per L, Pedersen Erling Bjerregaard, Mosekilde Leif, Rejnmark La |
| Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences. The Journal of clinical endocrinology and metabolism 2016 Mar jc20153442. Vargas-Poussou Rosa, Mansour-Hendili Lamisse, Baron Stéphanie, Bertocchio Jean-Philippe, Travers Caroline, Simian Christophe, Treard Cyrielle, Baudouin Véronique, Beltran Sonia, Broux Françoise, Camard Odile, Cloarec Sylvie, Cormier Catherine, Debussche Xavier, Dubosclard Emmanuelle, Eid Celine, Haymann Jean-Philippe, Romuald Kiando Soto, Kuhn Jean-Marc, Lefort Guy, Linglart Agnes, Lucas-Pouliquen Bernadette, Macher Marie-Alice, Maruani Gérard, Ouzounian Sophie, Polak Michel, Requeda Elisabeth, Robier Dominique, Silve Caroline, Souberbielle Jean-Claude, Tack Ivan, Vezzosi Delphine, Jeunemaitre Xavier, Houillier Pasc |
| 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 |
| Expanding the spectrum of genetic variants in the calcium-sensing receptor (CASR) gene in hypercalcemic individuals. Clinical endocrinology 2019 8 91 (5): 683-690. Nissen Peter H, Rejnmark La |
| 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, |
| Calcium-Sensing Receptor Polymorphisms at rs1801725 Are Associated with Increased Risk of Secondary Malignancies. Journal of personalized medicine 2021 Jul 11 (7): . Actkins Ky'Era V, Beasley Heather K, Faucon Annika B, Davis Lea K, Sakwe Amos |
| The three common polymorphisms p.A986S, p.R990G and p.Q1011E in the calcium sensing receptor (CASR) are not associated with chronic pancreatitis. Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 2021 8 21 (7): 1299-1304. Ewers Maren, Canaff Lucie, Weh Antonia Em, Masson Emmanuelle, Eiseler Katharina, Chen Jian-Min, Rebours Vinciane, Bugert Peter, Michl Patrick, Rosendahl Jonas, Férec Claude, Goltzman David, Witt Hei |
| Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis. BMC medical genomics 2021 11 14 (1): 266. Ullah Ihsan, Ottlewski Isabel, Shehzad Wasim, Riaz Amjad, Ijaz Sadaqat, Tufail Asad, Ammara Hafiza, Mane Shrikant, Shril Shirlee, Hildebrandt Friedhelm, Zahoor Muhammad Yasir, Majmundar Amar |
| Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing. Frontiers in endocrinology 2022 5 13 853171. Park Hye-Sun, Lee Yeon Hee, Hong Namki, Won Dongju, Rhee Yum |
| Novel mutations of the calcium-sensing receptor impede differential diagnosis of primary hyperparathyroidism and familial hypocalciuric hypercalcemia. Gland surgery 2022 3 11 (1): 12-22. Bhangu Jagdeep Singh, Baumgartner-Parzer Sabina, Hargitai Lindsay, Mazal Peter, Scheuba Christian, Riss Phili |
| Haplotype of CaSR gene is associated with risk of renal stone disease in West Indian population. Urolithiasis 2022 12 51 (1): 25. Patel Yash P, Pandey Sachchida Nand, Patel Sandip B, Parikh Aditya, Soni Shailesh, Shete Nitiraj, Srivastava Ratika, Raval Manan A, Ganpule Arvind P, Patel Samir G, Desai Mahesh |
| 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:Sep 18, 2023
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