Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 16 (of 16 Records) |
Query Trace: Familial Hypocalciuric Hypercalcemia[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 |
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 |
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 |
MAJOR MOLECULAR GENETIC DRIVERS IN SPORADIC PRIMARY HYPERPARATHYROIDISM. Transactions of the American Clinical and Climatological Association 2017 1 127 235-244. Arnold Andr |
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, |
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 |
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 |
GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism. Frontiers in endocrinology 2023 12 14 1254156. Auryan Szalat, Shoshana Shpitzen, Rena Pollack, Haggi Mazeh, Ronen Durst, Vardiella Mein |
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- Page last updated:May 13, 2024
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