225 related articles for article (PubMed ID: 29959532)
1. Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations.
Hureaux M; Molin A; Jay N; Saliou AH; Spaggiari E; Salomon R; Benachi A; Vargas-Poussou R; Heidet L
Pediatr Nephrol; 2018 Oct; 33(10):1723-1729. PubMed ID: 29959532
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Rare Cause of Infantile Hypercalcemia: A Novel Mutation in the SLC34A1 Gene.
Kurnaz E; Savaş Erdeve Ş; Çetinkaya S; Aycan Z
Horm Res Paediatr; 2019; 91(4):278-284. PubMed ID: 30227399
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndrome.
Kenny J; Lees MM; Drury S; Barnicoat A; Van't Hoff W; Palmer R; Morrogh D; Waters JJ; Lench NJ; Bockenhauer D
Pediatr Nephrol; 2011 Aug; 26(8):1331-4. PubMed ID: 21597970
[TBL] [Abstract][Full Text] [Related]
10. Exome sequencing identifies a novel homozygous mutation in the phosphate transporter SLC34A1 in hypophosphatemia and nephrocalcinosis.
Rajagopal A; Braslavsky D; Lu JT; Kleppe S; Clément F; Cassinelli H; Liu DS; Liern JM; Vallejo G; Bergadá I; Gibbs RA; Campeau PM; Lee BH
J Clin Endocrinol Metab; 2014 Nov; 99(11):E2451-6. PubMed ID: 25050900
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
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. Infantile hypercalcemia with novel compound heterozygous mutation in SLC34A1 encoding renal sodium-phosphate cotransporter 2a: a case report.
Kang SJ; Lee R; Kim HS
Ann Pediatr Endocrinol Metab; 2019 Mar; 24(1):64-67. PubMed ID: 30943683
[TBL] [Abstract][Full Text] [Related]
16. Hypercalcemia, hypercalciuria and nephrocalcinosis in a breast-fed term newborn: a rare presentation.
Hazza IA; Ghandour MS; Almardini RI; Haddad RE; Salaita GM
Saudi J Kidney Dis Transpl; 2014 Jul; 25(4):849-53. PubMed ID: 24969200
[TBL] [Abstract][Full Text] [Related]
17. Prenatal bone abnormalities in three cases of familial hypocalciuric hypercalcemia.
Frerot A; Baudouin V; Rideau-Batista A; Couderc A; Garel C; Soltane S; Colella M; Vargas-Poussou R; Hureaux M
Prenat Diagn; 2022 May; 42(5):583-588. PubMed ID: 35301736
[TBL] [Abstract][Full Text] [Related]
18. Perinatal and infant outcome of fetuses with prenatally diagnosed hyperechogenic kidneys.
Yulia A; Napolitano R; Aiman A; Desai D; Johal N; Whitten M; Ushakov F; Pandya PP; Winyard PJD
Ultrasound Obstet Gynecol; 2021 Jun; 57(6):953-958. PubMed ID: 32530118
[TBL] [Abstract][Full Text] [Related]
19. Antenatal presentation and early postnatal treatment of infantile hypercalcemia type 2.
Verjans M; Hindryckx A; Rosier K; Devriendt K; Mekahli D; Bockenhauer D
Pediatr Nephrol; 2024 May; ():. PubMed ID: 38753084
[TBL] [Abstract][Full Text] [Related]
20. [Prenatal diagnosis and clinical prognosis of fetal hyperechogenic kidneys].
Li H; Liu T; Liu C; Shang T
Zhonghua Fu Chan Ke Za Zhi; 2007 Apr; 42(4):236-8. PubMed ID: 17631762
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]