226 related articles for article (PubMed ID: 29959532)
21. 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]
22. 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]
23. 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]
24. 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]
25. 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]
26. Uncommon cribfellows: an infant with hypercalcemia, nephrocalcinosis, and acidosis: Answers.
Ehlayel AM; Copelovitch L
Pediatr Nephrol; 2018 Oct; 33(10):1697-1699. PubMed ID: 29460158
[No Abstract] [Full Text] [Related]
27. 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]
28. 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]
29. Phenotype of Idiopathic Infantile Hypercalcemia Associated with the Heterozygous Pathogenic Variant of
Bizerea-Moga TO; Chisavu F; Ilies C; Olah O; Marginean O; Gafencu M; Doros G; Stroescu R
Children (Basel); 2023 Oct; 10(10):. PubMed ID: 37892364
[TBL] [Abstract][Full Text] [Related]
30. Loss of function of NaPiIIa causes nephrocalcinosis and possibly kidney insufficiency.
Dinour D; Davidovits M; Ganon L; Ruminska J; Forster IC; Hernando N; Eyal E; Holtzman EJ; Wagner CA
Pediatr Nephrol; 2016 Dec; 31(12):2289-2297. PubMed ID: 27378183
[TBL] [Abstract][Full Text] [Related]
31. Mild infantile hypercalcemia: diagnostic tests and outcomes.
Koltin D; Rachmiel M; Wong BY; Cole DE; Harvey E; Sochett E
J Pediatr; 2011 Aug; 159(2):215-21.e1. PubMed ID: 21414629
[TBL] [Abstract][Full Text] [Related]
32. Clinical Heterogeneity and Phenotypic Expansion of NaPi-IIa-Associated Disease.
Demir K; Yildiz M; Bahat H; Goldman M; Hassan N; Tzur S; Ofir A; Magen D
J Clin Endocrinol Metab; 2017 Dec; 102(12):4604-4614. PubMed ID: 29029121
[TBL] [Abstract][Full Text] [Related]
33. A novel SLC12A1 gene mutation associated with hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis in four patients.
Wongsaengsak S; Vidmar AP; Addala A; Kamil ES; Sequeira P; Fass B; Pitukcheewanont P
Bone; 2017 Apr; 97():121-125. PubMed ID: 28095294
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. Hyperechogenic kidneys and polyhydramnios associated with HNF1B gene mutation.
Gondra L; Décramer S; Chalouhi GE; Muller F; Salomon R; Heidet L
Pediatr Nephrol; 2016 Oct; 31(10):1705-8. PubMed ID: 27286685
[TBL] [Abstract][Full Text] [Related]
36. Prenatal diagnosis of bilateral isolated fetal hyperechogenic kidneys. Is it possible to predict long term outcome?
Tsatsaris V; Gagnadoux MF; Aubry MC; Gubler MC; Dumez Y; Dommergues M
BJOG; 2002 Dec; 109(12):1388-93. PubMed ID: 12504976
[TBL] [Abstract][Full Text] [Related]
37. A missense mutation in the sodium phosphate co-transporter Slc34a1 impairs phosphate homeostasis.
Iwaki T; Sandoval-Cooper MJ; Tenenhouse HS; Castellino FJ
J Am Soc Nephrol; 2008 Sep; 19(9):1753-62. PubMed ID: 18550648
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. [Prenatal diagnosis of hyperechogenic kidneys: A study of 17 cases].
Emmanuelli V; Lahoche-Manucci A; Holder-Espinasse M; Devisme L; Vaast P; Dieux-Coeslier A; Dehennault M; Petit S; Besson R; Houfflin-Debarge V
J Gynecol Obstet Biol Reprod (Paris); 2010 Dec; 39(8):637-46. PubMed ID: 20832953
[TBL] [Abstract][Full Text] [Related]
40. The human pathogenic 91del7 mutation in SLC34A1 has no effect in mineral homeostasis in mice.
Bieri C; Daryadel A; Bettoni C; Pastor-Arroyo EM; Schnitzbauer U; Hernando N; Wagner CA
Sci Rep; 2022 Apr; 12(1):6102. PubMed ID: 35414099
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]