BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

266 related articles for article (PubMed ID: 23001465)

  • 1. Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene.
    Fencl F; Bláhová K; Schlingmann KP; Konrad M; Seeman T
    Eur J Pediatr; 2013 Jan; 172(1):45-9. PubMed ID: 23001465
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations in CYP24A1 and idiopathic infantile hypercalcemia.
    Schlingmann KP; Kaufmann M; Weber S; Irwin A; Goos C; John U; Misselwitz J; Klaus G; Kuwertz-Bröking E; Fehrenbach H; Wingen AM; Güran T; Hoenderop JG; Bindels RJ; Prosser DE; Jones G; Konrad M
    N Engl J Med; 2011 Aug; 365(5):410-21. PubMed ID: 21675912
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia.
    Skalova S; Cerna L; Bayer M; Kutilek S; Konrad M; Schlingmann KP
    Iran J Kidney Dis; 2013 Mar; 7(2):160-4. PubMed ID: 23485543
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [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; 40(6):. PubMed ID: 38156538
    [TBL] [Abstract][Full Text] [Related]  

  • 6. CYP24A1 Mutation in a Girl Infant with Idiopathic Infantile Hypercalcemia.
    Madsen JOB; Sauer S; Beck B; Johannesen J
    J Clin Res Pediatr Endocrinol; 2018 Mar; 10(1):83-86. PubMed ID: 28874334
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia.
    Dauber A; Nguyen TT; Sochett E; Cole DE; Horst R; Abrams SA; Carpenter TO; Hirschhorn JN
    J Clin Endocrinol Metab; 2012 Feb; 97(2):E268-74. PubMed ID: 22112808
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. CYP3A4 Induction by Rifampin: An Alternative Pathway for Vitamin D Inactivation in Patients With CYP24A1 Mutations.
    Hawkes CP; Li D; Hakonarson H; Meyers KE; Thummel KE; Levine MA
    J Clin Endocrinol Metab; 2017 May; 102(5):1440-1446. PubMed ID: 28324001
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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; 62(11):103577. PubMed ID: 30423445
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH).
    De Paolis E; Minucci A; De Bonis M; Scaglione GL; Gervasoni J; Primiano A; Ferraro PM; Cappellani D; Marcocci C; Gambaro G; Capoluongo E
    Clin Chim Acta; 2018 Jul; 482():8-13. PubMed ID: 29574006
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Lightwood syndrome revisited with a novel mutation in CYP24 and vitamin D supplement recommendations.
    Castanet M; Mallet E; Kottler ML
    J Pediatr; 2013 Oct; 163(4):1208-10. PubMed ID: 23768816
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Idiopathic Infantile Hypercalcemia, Presenting in Adulthood--No Longer Idiopathic Nor Infantile: Two Case Reports and Review.
    Tray KA; Laut J; Saidi A
    Conn Med; 2015; 79(10):593-7. PubMed ID: 26731879
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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; 22():e931116. PubMed ID: 34662328
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis.
    Jobst-Schwan T; Pannes A; Schlingmann KP; Eckardt KU; Beck BB; Wiesener MS
    Kidney Blood Press Res; 2015; 40(5):443-51. PubMed ID: 26304832
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.