270 related articles for article (PubMed ID: 31789978)
21. 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]
22. 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]
23. 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
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. 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]
26. 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]
27. 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
[TBL] [Abstract][Full Text] [Related]
28. Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure.
Colussi G; Ganon L; Penco S; De Ferrari ME; Ravera F; Querques M; Primignani P; Holtzman EJ; Dinour D
Nephrol Dial Transplant; 2014 Mar; 29(3):636-43. PubMed ID: 24235083
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. 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
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. 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]
33. 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]
34. 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]
35. 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]
36. Nephrolithiasis and Nephrocalcinosis in Children - Metabolic and Genetic Factors.
Tasic V; Gucev Z
Pediatr Endocrinol Rev; 2015 Sep; 13(1):468-76. PubMed ID: 26540764
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis.
Braun DA; Lawson JA; Gee HY; Halbritter J; Shril S; Tan W; Stein D; Wassner AJ; Ferguson MA; Gucev Z; Fisher B; Spaneas L; Varner J; Sayer JA; Milosevic D; Baum M; Tasic V; Hildebrandt F
Clin J Am Soc Nephrol; 2016 Apr; 11(4):664-72. PubMed ID: 26787776
[TBL] [Abstract][Full Text] [Related]
39. Vitamin D-dependent Hypercalcemia.
Schlingmann KP
Endocrinol Metab Clin North Am; 2021 Dec; 50(4):729-742. PubMed ID: 34774244
[TBL] [Abstract][Full Text] [Related]
40. Fluconazole in hypercalciuric patients with increased 1,25(OH)
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; 23(1):499. PubMed ID: 35710560
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
