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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 4, 2023. (Total: 217641Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Hypercalcemia and AP2S1[original query]
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
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