Human Genome Epidemiology Literature Finder
Records 1 - 4 (of 4 Records) |
Query Trace: Hypercalcemia and AP2S1[original query] |
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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 |
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 |
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 |
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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