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Journal Abstract Search

290 related items for PubMed ID: 28470390

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  • 2. Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia.
    Wang Q, Chen JJ, Wei LY, Ding Y, Liu M, Li WJ, Su C, Gong CX.
    Orphanet J Rare Dis; 2024 Mar 19; 19(1):126. PubMed ID: 38504242
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  • 4. 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 Mar 19; 12():736240. PubMed ID: 34721296
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  • 6. CYP24A1 and SLC34A1 genetic defects associated with idiopathic infantile hypercalcemia: from genotype to phenotype.
    De Paolis E, Scaglione GL, De Bonis M, Minucci A, Capoluongo E.
    Clin Chem Lab Med; 2019 Oct 25; 57(11):1650-1667. PubMed ID: 31188746
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  • 8. Analysis of vitamin D3 metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1 mutation or SLC34A1 mutation.
    Kowalska E, Rola R, Wójcik M, Łaszcz N, Płudowski P, Wierzbicka A, Janiec A, Książyk J, Halat P, Ciara E, Obrycki Ł, Pronicka E, Litwin M.
    J Steroid Biochem Mol Biol; 2021 Apr 25; 208():105824. PubMed ID: 33516786
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  • 10. [New Mutation of CYP24A1 in a Case of Idiopathic Infantile Hypercalcemia Diagnosed in Adulthood].
    Zanchelli F, Giudicissi A, Neri L, Sgarlato V, Bruno PF, Ruggeri M, Signorotti S, Vetrano D, Buscaroli A.
    G Ital Nefrol; 2023 Dec 22; 40(6):. PubMed ID: 38156538
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  • 11. Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study.
    Cools M, Goemaere S, Baetens D, Raes A, Desloovere A, Kaufman JM, De Schepper J, Jans I, Vanderschueren D, Billen J, De Baere E, Fiers T, Bouillon R.
    Bone; 2015 Dec 22; 81():89-96. PubMed ID: 26117226
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  • 13. 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 22; 65(1):122-6. PubMed ID: 25446019
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  • 17. Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant of SLC34A1 and CYP24A1.
    Bizerea-Moga TO, Chisavu F, Ilies C, Olah O, Marginean O, Gafencu M, Doros G, Stroescu R.
    Children (Basel); 2023 Oct 17; 10(10):. PubMed ID: 37892364
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  • 20. Molecular characterization of a recurrent 10.9 kb CYP24A1 deletion in Idiopathic Infantile Hypercalcemia.
    Molin A, Nowoczyn M, Coudray N, Ballandone C, Abéguilé G, Mittre H, Richard N, Eckart P, Castanet M, Kottler ML.
    Eur J Med Genet; 2019 Nov 17; 62(11):103577. PubMed ID: 30423445
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