These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

350 related items for PubMed ID: 34721296

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 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
    [Abstract] [Full Text] [Related]

  • 3. Idiopathic infantile hypercalcemia: mutations in SLC34A1 and CYP24A1 in two siblings and fathers.
    Güven A, Konrad M, Schlingmann KP.
    J Pediatr Endocrinol Metab; 2020 Aug 31; 33(10):1353-1358. PubMed ID: 32866123
    [Abstract] [Full Text] [Related]

  • 4. 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 31; 58(3):349-353. PubMed ID: 28470390
    [Abstract] [Full Text] [Related]

  • 5. 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 31; 208():105824. PubMed ID: 33516786
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria.
    Gordon RJ, Li D, Doyle D, Zaritsky J, Levine MA.
    J Clin Endocrinol Metab; 2020 Jul 01; 105(7):2392-400. PubMed ID: 32311027
    [Abstract] [Full Text] [Related]

  • 8. 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 01; 27(2):604-14. PubMed ID: 26047794
    [Abstract] [Full Text] [Related]

  • 9. 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 Feb 01; 94(3-4):124-132. PubMed ID: 34320495
    [Abstract] [Full Text] [Related]

  • 10. CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait.
    Molin A, Baudoin R, Kaufmann M, Souberbielle JC, Ryckewaert A, Vantyghem MC, Eckart P, Bacchetta J, Deschenes G, Kesler-Roussey G, Coudray N, Richard N, Wraich M, Bonafiglia Q, Tiulpakov A, Jones G, Kottler ML.
    J Clin Endocrinol Metab; 2015 Oct 01; 100(10):E1343-52. PubMed ID: 26214117
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations.
    Janiec A, Halat-Wolska P, Obrycki Ł, Ciara E, Wójcik M, Płudowski P, Wierzbicka A, Kowalska E, Książyk JB, Kułaga Z, Pronicka E, Litwin M.
    Nephrol Dial Transplant; 2021 Jul 23; 36(8):1484-1492. PubMed ID: 33099630
    [Abstract] [Full Text] [Related]

  • 13. 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 23; 38(4):1067-1073. PubMed ID: 36156733
    [Abstract] [Full Text] [Related]

  • 14. Fluconazole as a New Therapeutic Tool to Manage Patients With NPTIIc (SLC34A3) Mutation: A Case Report.
    Bertholet-Thomas A, Tram N, Dubourg L, Lemoine S, Molin A, Bacchetta J.
    Am J Kidney Dis; 2019 Jun 23; 73(6):886-889. PubMed ID: 30765103
    [Abstract] [Full Text] [Related]

  • 15. 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 23; 65(1):122-6. PubMed ID: 25446019
    [Abstract] [Full Text] [Related]

  • 16. Clinical and biochemical phenotypes of adults with monoallelic and biallelic CYP24A1 mutations: evidence of gene dose effect.
    O'Keeffe DT, Tebben PJ, Kumar R, Singh RJ, Wu Y, Wermers RA.
    Osteoporos Int; 2016 Oct 23; 27(10):3121-5. PubMed ID: 27129455
    [Abstract] [Full Text] [Related]

  • 17. CYP24A1 loss of function: Clinical phenotype of monoallelic and biallelic mutations.
    Carpenter TO.
    J Steroid Biochem Mol Biol; 2017 Oct 23; 173():337-340. PubMed ID: 28093352
    [Abstract] [Full Text] [Related]

  • 18. Renal phosphate handling and inherited disorders of phosphate reabsorption: an update.
    Wagner CA, Rubio-Aliaga I, Hernando N.
    Pediatr Nephrol; 2019 Apr 23; 34(4):549-559. PubMed ID: 29275531
    [Abstract] [Full Text] [Related]

  • 19. Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations.
    Hureaux M, Molin A, Jay N, Saliou AH, Spaggiari E, Salomon R, Benachi A, Vargas-Poussou R, Heidet L.
    Pediatr Nephrol; 2018 Oct 23; 33(10):1723-1729. PubMed ID: 29959532
    [Abstract] [Full Text] [Related]

  • 20. Antenatal presentation and early postnatal treatment of infantile hypercalcemia type 2.
    Verjans M, Hindryckx A, Rosier K, Devriendt K, Mekahli D, Bockenhauer D.
    Pediatr Nephrol; 2024 Oct 23; 39(10):2911-2913. PubMed ID: 38753084
    [Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 18.