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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 7 (of 7 Records)

Query Trace: Nephrolithiasis and CYP24A1[original query]
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
Genetic variants of calcium and vitamin D metabolism in kidney stone disease. GWAS Catalog
Nature communications 2019 Nov 10 (1): 5175.
Howles Sarah A, Wiberg Akira, Goldsworthy Michelle, Bayliss Asha L, Gluck Anna K, Ng Michael, Grout Emily, Tanikawa Chizu, Kamatani Yoichiro, Terao Chikashi, Takahashi Atsushi, Kubo Michiaki, Matsuda Koichi, Thakker Rajesh V, Turney Benjamin W, Furniss Domin
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
Association analysis of 10 candidate genes causing Mendelian calcium nephrolithiasis in the INCIPE study: a South European general population cohort.
Clinical kidney journal 2023 3 16 (3): 521-527.
Santoro Gloria, Lombardi Gianmarco, Andreola Stefano, Salvagno Gian Luca, Treccani Mirko, Locatelli Elena, Ferraro Pietro Manuel, Lippi Giuseppe, Malerba Giovanni, Gambaro Giovan
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