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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 4, 2023. (Total: 221739Documents)
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Records 1 - 12 (of 12 Records)

Query Trace: Hypercalcemia and CYP24A1[original query]
Vitamin D pathway gene variants and prostate cancer prognosis.
The Prostate 2010 Sep 70 (13): 1448-60.
Holt Sarah K, Kwon Erika M, Koopmeiners Joseph S, Lin Daniel W, Feng Ziding, Ostrander Elaine A, Peters Ulrike, Stanford Janet
Mutations in CYP24A1 and idiopathic infantile hypercalcemia.
The New England journal of medicine 2011 Aug 365 (5): 410-21.
Schlingmann Karl P, Kaufmann Martin, Weber Stefanie, Irwin Andrew, Goos Caroline, John Ulrike, Misselwitz Joachim, Klaus Günter, Kuwertz-Bröking Eberhard, Fehrenbach Henry, Wingen Anne M, Güran Tülay, Hoenderop Joost G, Bindels René J, Prosser David E, Jones Glenville, Konrad Mart
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
Sources of variation evaluation of 24,25(OH)2D levels and the ratio of 25OHD to 24,25(OH)2D in apparently healthy Chinese adults: a multicenter cross-sectional study.
The Journal of steroid biochemistry and molecular biology 2019 6 192 105407.
Yu Songlin, Wang Danchen, Yin Yicong, Cheng Qian, Xie Shaowei, Yu Jialei, Sun Dandan, Cheng Xinqi, Qiu Li
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
Do the Heterozygous Carriers of a CYP24A1 Mutation Display a Different Biochemical Phenotype Than Wild Types?
The Journal of clinical endocrinology and metabolism 2020 11 106 (3): 708-717.
Brancatella Alessandro, Cappellani Daniele, Kaufmann Martin, Borsari Simona, Piaggi Paolo, Baldinotti Fulvia, Caligo Maria Adelaide, Jones Glenville, Marcocci Claudio, Cetani Filome
CYP24A1 and SLC34A1 Pathogenic Variants Are Uncommon in a Canadian Cohort of Children with Hypercalcemia or Hypercalciuria.
Hormone research in paediatrics 2021 7 94 (3-4): 124-132.
Rousseau-Nepton Isabelle, Jones Glenville, Schlingmann Karlpiet, Kaufmann Martin, Zuijdwijk Caroline S, Khatchadourian Karine, Gupta Indra R, Pacaud Danièle, Pinsk Maury N, Mokashi Arati, Nour Munier A, Alexander R Todd, Rodd Celia
High Prevalence of Kidney Cysts in Patients With CYP24A1 Deficiency.
Kidney international reports 2021 7 6 (7): 1895-1903.
Hanna Christian, Potretzke Theodora A, Cogal Andrea G, Mkhaimer Yaman G, Tebben Peter J, Torres Vicente E, Lieske John C, Harris Peter C, Sas David J, Milliner Dawn S, Chebib Fouad
Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH).
Molecular biology reports 2021 4 48 (4): 3303-3311.
De Bonis Maria, De Paolis Elisa, Onori Maria Elisabetta, Mazzuccato Giorgia, Gatto Antonio, Ferrara Pietro, Ferraro Pietro Manuel, Urbani Andrea, Minucci Ange
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
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