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Journal Abstract Search

182 related items for PubMed ID: 36156733

  • 1. Idiopathic infantile hypercalcemia in children with chronic kidney disease due to kidney hypodysplasia.
    Gurevich E, Borovitz Y, Levi S, Perlman S, Landau D.
    Pediatr Nephrol; 2023 Apr; 38(4):1067-1073. PubMed ID: 36156733
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  • 2. Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings.
    Lenherr-Taube N, Young EJ, Furman M, Elia Y, Assor E, Chitayat D, Uster T, Kirwin S, Robbins K, Vinette KMB, Daneman A, Marshall CR, Collins C, Thummel K, Sochett E, Levine MA.
    J Clin Endocrinol Metab; 2021 Sep 27; 106(10):2915-2937. PubMed ID: 34125233
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  • 3. 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 27; 65(1):122-6. PubMed ID: 25446019
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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 Jan 27; 12():736240. PubMed ID: 34721296
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  • 5. 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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  • 7. Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.
    Pronicka E, Ciara E, Halat P, Janiec A, Wójcik M, Rowińska E, Rokicki D, Płudowski P, Wojciechowska E, Wierzbicka A, Książyk JB, Jacoszek A, Konrad M, Schlingmann KP, Litwin M.
    J Appl Genet; 2017 Aug 19; 58(3):349-353. PubMed ID: 28470390
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  • 9. 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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  • 13. Mild Idiopathic Infantile Hypercalcemia-Part 2: A Longitudinal Observational Study.
    Lenherr-Taube N, Furman M, Assor E, Elia Y, Collins C, Thummel K, Levine MA, Sochett E.
    J Clin Endocrinol Metab; 2021 Sep 27; 106(10):2938-2948. PubMed ID: 34139759
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  • 15. 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 27; 62(11):103577. PubMed ID: 30423445
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  • 17. Fluconazole in hypercalciuric patients with increased 1,25(OH)2D levels: the prospective, randomized, placebo-controlled, double-blind FLUCOLITH trial.
    Bertholet-Thomas A, Portefaix A, Flammier S, Dhelens C, Subtil F, Dubourg L, Laudy V, Le Bouar M, Boussaha I, Ndiaye M, Molin A, Lemoine S, Bacchetta J.
    Trials; 2022 Jun 16; 23(1):499. PubMed ID: 35710560
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  • 18. 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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  • 19. Childhood Hypercalciuric Hypercalcemia With Elevated Vitamin D and Suppressed Parathyroid Hormone: Long-Term Follow Up.
    Gurevich E, Levi S, Borovitz Y, Alfandary H, Ganon L, Dinour D, Davidovits M.
    Front Pediatr; 2021 Oct 17; 9():752312. PubMed ID: 34858904
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  • 20. 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 17; 190(2):552-7. PubMed ID: 23470222
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