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PUBMED FOR HANDHELDS

Journal Abstract Search


211 related items for PubMed ID: 33099630

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  • 3. Overlapping Phenotypes Associated With CYP24A1, SLC34A1, and SLC34A3 Mutations: A Cohort Study of Patients With Hypersensitivity to Vitamin D.
    Molin A, Lemoine S, Kaufmann M, Breton P, Nowoczyn M, Ballandonne C, Coudray N, Mittre H, Richard N, Ryckwaert A, Lavillaureix A, Jones G, Bacchetta J, Kottler ML.
    Front Endocrinol (Lausanne); 2021; 12():736240. PubMed ID: 34721296
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  • 5. CYP24A1 and SLC34A1 Pathogenic Variants Are Uncommon in a Canadian Cohort of Children with Hypercalcemia or Hypercalciuria.
    Rousseau-Nepton I, Jones G, Schlingmann K, Kaufmann M, Zuijdwijk CS, Khatchadourian K, Gupta IR, Pacaud D, Pinsk MN, Mokashi A, Nour MA, Alexander RT, Rodd CJ.
    Horm Res Paediatr; 2021; 94(3-4):124-132. PubMed ID: 34320495
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  • 9. Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia.
    Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, Pronicka E, Ciara E, Akcay T, Bulus D, Cornelissen EA, Gawlik A, Sikora P, Patzer L, Galiano M, Boyadzhiev V, Dumic M, Vivante A, Kleta R, Dekel B, Levtchenko E, Bindels RJ, Rust S, Forster IC, Hernando N, Jones G, Wagner CA, Konrad M.
    J Am Soc Nephrol; 2016 Feb; 27(2):604-14. PubMed ID: 26047794
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  • 10. Kidney function and influence of sunlight exposure in patients with impaired 24-hydroxylation of vitamin D due to CYP24A1 mutations.
    Figueres ML, Linglart A, Bienaime F, Allain-Launay E, Roussey-Kessler G, Ryckewaert A, Kottler ML, Hourmant M.
    Am J Kidney Dis; 2015 Jan; 65(1):122-6. PubMed ID: 25446019
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  • 11. Persistent hypercalcaemia associated with two pathogenic variants in the CYP24A1 gene and a parathyroid adenoma-a case report and review.
    Leszczyńska D, Szatko A, Latocha J, Kochman M, Duchnowska M, Wójcicka A, Misiorowski W, Zgliczyníski W, Glinicki P.
    Front Endocrinol (Lausanne); 2024 Jan; 15():1355916. PubMed ID: 38665259
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  • 14. Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis.
    Dinour D, Beckerman P, Ganon L, Tordjman K, Eisenstein Z, Holtzman EJ.
    J Urol; 2013 Aug; 190(2):552-7. PubMed ID: 23470222
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  • 17. Differential diagnosis of vitamin D-related hypercalcemia using serum vitamin D metabolite profiling.
    Kaufmann M, Schlingmann KP, Berezin L, Molin A, Sheftel J, Vig M, Gallagher JC, Nagata A, Masoud SS, Sakamoto R, Nagasawa K, Uesugi M, Kottler ML, Konrad M, Jones G.
    J Bone Miner Res; 2021 Jul; 36(7):1340-1350. PubMed ID: 33856702
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  • 20. Do the Heterozygous Carriers of a CYP24A1 Mutation Display a Different Biochemical Phenotype Than Wild Types?
    Brancatella A, Cappellani D, Kaufmann M, Borsari S, Piaggi P, Baldinotti F, Caligo MA, Jones G, Marcocci C, Cetani F.
    J Clin Endocrinol Metab; 2021 Mar 08; 106(3):708-717. PubMed ID: 33249478
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