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Journal Abstract Search

262 related items for PubMed ID: 26097993

  • 1. Maternal Hypercalcemia Due to Failure of 1,25-Dihydroxyvitamin-D3 Catabolism in a Patient With CYP24A1 Mutations.
    Shah AD, Hsiao EC, O'Donnell B, Salmeen K, Nussbaum R, Krebs M, Baumgartner-Parzer S, Kaufmann M, Jones G, Bikle DD, Wang Y, Mathew AS, Shoback D, Block-Kurbisch I.
    J Clin Endocrinol Metab; 2015 Aug; 100(8):2832-6. PubMed ID: 26097993
    [Abstract] [Full Text] [Related]

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

  • 3. 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; 27(10):3121-5. PubMed ID: 27129455
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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; 100(10):E1343-52. PubMed ID: 26214117
    [Abstract] [Full Text] [Related]

  • 6. Vitamin D-Mediated Hypercalcemia: Mechanisms, Diagnosis, and Treatment.
    Tebben PJ, Singh RJ, Kumar R.
    Endocr Rev; 2016 Oct; 37(5):521-547. PubMed ID: 27588937
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

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  • 9. LC-MS/MS for Identifying Patients with CYP24A1 Mutations.
    Ketha H, Kumar R, Singh RJ.
    Clin Chem; 2016 Jan; 62(1):236-42. PubMed ID: 26585929
    [Abstract] [Full Text] [Related]

  • 10. Hypercalcemia and CYP24A1 Gene Mutation Diagnosed in the 2nd Trimester of a Twin Pregnancy: A Case Report.
    Romašovs A, Jaunozola L, Berga-Švītiņa E, Daneberga Z, Miklaševičs E, Pīrāgs V.
    Am J Case Rep; 2021 Oct 18; 22():e931116. PubMed ID: 34662328
    [Abstract] [Full Text] [Related]

  • 11. 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 18; 36(7):1340-1350. PubMed ID: 33856702
    [Abstract] [Full Text] [Related]

  • 12. Vitamin D and Diseases of Mineral Homeostasis: A Cyp24a1 R396W Humanized Preclinical Model of Infantile Hypercalcemia Type 1.
    St-Arnaud R, Arabian A, Kavame D, Kaufmann M, Jones G.
    Nutrients; 2022 Aug 06; 14(15):. PubMed ID: 35956396
    [Abstract] [Full Text] [Related]

  • 13. Hypervitaminosis D Secondary to a CYP24A1 Loss-of-Function Mutation: An Unusual Cause of Hypercalcemia in Two Siblings.
    Collins L, Boehm E, Luxford C, Clifton-Bligh R, Grill V.
    JBMR Plus; 2023 Sep 06; 7(9):e10788. PubMed ID: 37701149
    [Abstract] [Full Text] [Related]

  • 14. 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 06; 81():89-96. PubMed ID: 26117226
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. [A young girl with recurrent calculosis and hypercalcemia].
    Di Maio F, Vittori M, Bassi P, Fulignati P, D'Alonzo S, Ferraro PM.
    G Ital Nefrol; 2018 May 08; 35(3):. PubMed ID: 29786188
    [Abstract] [Full Text] [Related]

  • 17. Hypercalcemia in Pregnancy Due to CYP24A1 Mutations: Case Report and Review of the Literature.
    Pilz S, Theiler-Schwetz V, Pludowski P, Zelzer S, Meinitzer A, Karras SN, Misiorowski W, Zittermann A, März W, Trummer C.
    Nutrients; 2022 Jun 17; 14(12):. PubMed ID: 35745247
    [Abstract] [Full Text] [Related]

  • 18. 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 17; 58(3):349-353. PubMed ID: 28470390
    [Abstract] [Full Text] [Related]

  • 19. 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 Aug 17; 94(3-4):124-132. PubMed ID: 34320495
    [Abstract] [Full Text] [Related]

  • 20. 3' Untranslated Region Structural Elements in CYP24A1 Are Associated With Infantile Hypercalcemia Type 1.
    Ball N, Duncan S, Zhang Y, Payet R, Piec I, Whittle E, Tang JCY, Schoenmakers I, Lopez B, Chipchase A, Kumar A, Perry L, Maxwell H, Ding Y, Fraser WD, Green D.
    J Bone Miner Res; 2023 Mar 17; 38(3):414-426. PubMed ID: 36625425
    [Abstract] [Full Text] [Related]

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