192 related articles for article (PubMed ID: 21344632)
1. Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis-identification of a novel SLC34A3/NaPi-IIc mutation.
Phulwani P; Bergwitz C; Jaureguiberry G; Rasoulpour M; Estrada E
Am J Med Genet A; 2011 Mar; 155A(3):626-33. PubMed ID: 21344632
[TBL] [Abstract][Full Text] [Related]
2. A compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient.
Chi Y; Zhao Z; He X; Sun Y; Jiang Y; Li M; Wang O; Xing X; Sun AY; Zhou X; Meng X; Xia W
Bone; 2014 Feb; 59():114-21. PubMed ID: 24246249
[TBL] [Abstract][Full Text] [Related]
3. Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis.
Tencza AL; Ichikawa S; Dang A; Kenagy D; McCarthy E; Econs MJ; Levine MA
J Clin Endocrinol Metab; 2009 Nov; 94(11):4433-8. PubMed ID: 19820004
[TBL] [Abstract][Full Text] [Related]
4. SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis.
Bergwitz C; Roslin NM; Tieder M; Loredo-Osti JC; Bastepe M; Abu-Zahra H; Frappier D; Burkett K; Carpenter TO; Anderson D; Garabedian M; Sermet I; Fujiwara TM; Morgan K; Tenenhouse HS; Juppner H
Am J Hum Genet; 2006 Feb; 78(2):179-92. PubMed ID: 16358214
[TBL] [Abstract][Full Text] [Related]
5. Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred.
Yu Y; Sanderson SR; Reyes M; Sharma A; Dunbar N; Srivastava T; Jüppner H; Bergwitz C
Bone; 2012 May; 50(5):1100-6. PubMed ID: 22387237
[TBL] [Abstract][Full Text] [Related]
6. Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria.
Ichikawa S; Tuchman S; Padgett LR; Gray AK; Baluarte HJ; Econs MJ
Bone; 2014 Feb; 59():53-6. PubMed ID: 24176905
[TBL] [Abstract][Full Text] [Related]
7. Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications.
Kremke B; Bergwitz C; Ahrens W; Schütt S; Schumacher M; Wagner V; Holterhus PM; Jüppner H; Hiort O
Exp Clin Endocrinol Diabetes; 2009 Feb; 117(2):49-56. PubMed ID: 18523928
[TBL] [Abstract][Full Text] [Related]
8. Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3/NPT2c.
Dhir G; Li D; Hakonarson H; Levine MA
Bone; 2017 Apr; 97():15-19. PubMed ID: 27939817
[TBL] [Abstract][Full Text] [Related]
9. A novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc.
Jaureguiberry G; Carpenter TO; Forman S; Jüppner H; Bergwitz C
Am J Physiol Renal Physiol; 2008 Aug; 295(2):F371-9. PubMed ID: 18480181
[TBL] [Abstract][Full Text] [Related]
10. SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria.
Hasani-Ranjbar S; Amoli MM; Ebrahim-Habibi A; Dehghan E; Soltani A; Amiri P; Larijani B
J Clin Res Pediatr Endocrinol; 2012 Jun; 4(2):89-93. PubMed ID: 22672866
[TBL] [Abstract][Full Text] [Related]
11. Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
Lorenz-Depiereux B; Benet-Pages A; Eckstein G; Tenenbaum-Rakover Y; Wagenstaller J; Tiosano D; Gershoni-Baruch R; Albers N; Lichtner P; Schnabel D; Hochberg Z; Strom TM
Am J Hum Genet; 2006 Feb; 78(2):193-201. PubMed ID: 16358215
[TBL] [Abstract][Full Text] [Related]
12.
Hasani-Ranjbar S; Ejtahed HS; Amoli MM; Bitarafan F; Qorbani M; Soltani A; Yarjoo B
J Clin Res Pediatr Endocrinol; 2018 Nov; 10(4):343-349. PubMed ID: 29809158
[TBL] [Abstract][Full Text] [Related]
13. Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy.
Bergwitz C; Miyamoto KI
Pflugers Arch; 2019 Jan; 471(1):149-163. PubMed ID: 30109410
[TBL] [Abstract][Full Text] [Related]
14. Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function.
Yamamoto T; Michigami T; Aranami F; Segawa H; Yoh K; Nakajima S; Miyamoto K; Ozono K
J Bone Miner Metab; 2007; 25(6):407-13. PubMed ID: 17968493
[TBL] [Abstract][Full Text] [Related]
15. Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report.
Mejia-Gaviria N; Gil-Peña H; Coto E; Pérez-Menéndez TM; Santos F
Orphanet J Rare Dis; 2010 Jan; 5():1. PubMed ID: 20074341
[TBL] [Abstract][Full Text] [Related]
16. Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria.
Haito-Sugino S; Ito M; Ohi A; Shiozaki Y; Kangawa N; Nishiyama T; Aranami F; Sasaki S; Mori A; Kido S; Tatsumi S; Segawa H; Miyamoto K
Am J Physiol Cell Physiol; 2012 May; 302(9):C1316-30. PubMed ID: 22159077
[TBL] [Abstract][Full Text] [Related]
17. [Updates on rickets and osteomalacia: the role of NaPi-2c/SLC34A3 and hypophosphataemic rickets].
Segawa H; Shiozaki Y; Minoshima S; Miyamoto K
Clin Calcium; 2013 Oct; 23(10):1445-50. PubMed ID: 24076642
[TBL] [Abstract][Full Text] [Related]
18. Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria.
Gordon RJ; Li D; Doyle D; Zaritsky J; Levine MA
J Clin Endocrinol Metab; 2020 Jul; 105(7):2392-400. PubMed ID: 32311027
[TBL] [Abstract][Full Text] [Related]
19. Hereditary hypophosphatemic rickets with hypercalciuria (HHRH), a complex disorder in need of precision medicine.
Schinke T; Oheim R
Kidney Int; 2024 May; 105(5):927-929. PubMed ID: 38642991
[TBL] [Abstract][Full Text] [Related]
20. Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting.
Schönauer R; Petzold F; Lucinescu W; Seidel A; Müller L; Neuber S; Bergmann C; Sayer JA; Werner A; Halbritter J
Urolithiasis; 2019 Dec; 47(6):511-519. PubMed ID: 30798342
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]