BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

185 related articles for article (PubMed ID: 34320495)

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

  • 2. Analysis of vitamin D
    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; 208():105824. PubMed ID: 33516786
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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(1):126. PubMed ID: 38504242
    [TBL] [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; 58(3):349-353. PubMed ID: 28470390
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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; 33(10):1353-1358. PubMed ID: 32866123
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 106(10):2915-2937. PubMed ID: 34125233
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Overlapping Phenotypes Associated With
    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
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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; 36(8):1484-1492. PubMed ID: 33099630
    [TBL] [Abstract][Full Text] [Related]  

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

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

  • 12. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 106(3):708-717. PubMed ID: 33249478
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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; 57(11):1650-1667. PubMed ID: 31188746
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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; 38(3):414-426. PubMed ID: 36625425
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 81():89-96. PubMed ID: 26117226
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25-(OH)
    Kaufmann M; Morse N; Molloy BJ; Cooper DP; Schlingmann KP; Molin A; Kottler ML; Gallagher JC; Armas L; Jones G
    J Bone Miner Res; 2017 Jul; 32(7):1589-1596. PubMed ID: 28304097
    [TBL] [Abstract][Full Text] [Related]  

  • 20. AN INFANT WITH IDIOPATHIC HYPERCALCIURIA AND NEPHROLITHIASIS ASSOCIATED WITH CYP24A1 ENZYME POLYMORPHISM: A CASE REPORT.
    Trutin I; Škorić I
    Acta Clin Croat; 2022 Feb; 60(3):544-547. PubMed ID: 35282483
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.