Skip directly to search Skip directly to A to Z list Skip directly to navigation Skip directly to page options Skip directly to site content

Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Nov 28, 2023. (Total: 223416Documents)
   dataset        GWAS Only
Filtered By:

Previous    

Records 1 - 6 (of 6 Records)

Query Trace: Nephrocalcinosis and CYP24A1[original query]
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
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
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
TOP