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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: May 28, 2023. (Total: 217323Documents)
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Records 1 - 16 (of 16 Records)

Query Trace: Hypercalcemia and PTH[original query]
Vitamin D receptor gene polymorphism and calcium metabolism in sarcoidosis patients.
Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG / World Association of Sarcoidosis and Other Granulomatous Disorders 2000 Oct 17 (3): 266-9.
Niimi T, Tomita H, Sato S, Akita K, Maeda H, Kawaguchi H, Mori T, Sugiura Y, Yoshinouchi T, Ueda
Influence of Bsml vitamin D receptor gene polymorphism on the response to a single bolus of calcitrol in hemodialysis patients.
Clinical nephrology 2001 Aug 56 (2): 111-6.
Marco M P, Martínez I, Betriu A, Craver L, Fibla M J, Fernández
Treatment with intermittent calcitriol and calcium reduces bone loss after renal transplantation.
Kidney international 2004 1 65 (2): 705-12.
Torres Armando, García Sagrario, Gómez Angeles, González Antonieta, Barrios Ysamar, Concepción María Teresa, Hernández Domingo, García José J, Checa María Dolores, Lorenzo Victor, Salido Eduar
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
Mutational analysis of GCMB, a parathyroid-specific transcription factor, in parathyroid adenoma of primary hyperparathyroidism.
The Journal of endocrinology 2011 Aug 210 (2): 165-71.
Mannstadt Michael, Holick Emily, Zhao Wenping, Jüppner Hara
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
Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia.
Nephron 2016 Jul 133 (3): .
Gigante Maddalena, Santangelo Luisa, Diella Sterpeta, Caridi Gianluca, Argentiero Lucia, D'Alessandro Maria Michela, Martino Marida, Stea Emma Diletta, Ardissino Gianluigi, Carbone Vincenza, Pepe Silvana, Scrutinio Domenico, Maringhini Silvio, Ghiggeri Gian Marco, Grandaliano Giuseppe, Giordano Mario, Gesualdo Lore
Clinical and biochemical phenotypes of adults with monoallelic and biallelic CYP24A1 mutations: evidence of gene dose effect.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2016 Apr .
O'Keeffe D T, Tebben P J, Kumar R, Singh R J, Wu Y, Wermers R
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
Gestational hypercalcemia: Prevalence and biochemical profile.
The Journal of steroid biochemistry and molecular biology 2020 2 199 105611.
Schoenmakers I, Piec I, Baban S, Bärebring L, Green D, Washbourne C J, Tang J C Y, Fraser W D, Augustin
Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D.
Frontiers in endocrinology 2021 11 12 736240.
Molin Arnaud, Lemoine Sandrine, Kaufmann Martin, Breton Pierre, Nowoczyn Marie, Ballandonne Céline, Coudray Nadia, Mittre Hervé, Richard Nicolas, Ryckwaert Amélie, Lavillaureix Alinoe, Jones Glenville, Bacchetta Justine, Kottler Marie-Lau
Idiopathic infantile hypercalcemia in children with chronic kidney disease due to kidney hypodysplasia.
Pediatric nephrology (Berlin, Germany) 2022 9 38 (4): 1067-1073.
Gurevich Evgenia, Borovitz Yael, Levi Shelli, Perlman Sharon, Landau Dani
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
Clinical and genetic analysis of atypical parathyroid adenoma compared with parathyroid carcinoma and benign lesions in a Chinese cohort.
Frontiers in endocrinology 2023 2 14 1027598.
Chen Yingyu, Song An, Nie Min, Jiang Yan, Li Mei, Xia Weibo, Wang Ou, Xing Xiaopi
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