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Items: 1 to 20 of 103

1.

Novel SLC34A3 mutation causing hereditary hypophosphataemic rickets with hypercalciuria in a Gambian family.

Braithwaite V, Pettifor JM, Prentice A.

Bone. 2013 Mar;53(1):216-20. doi: 10.1016/j.bone.2012.12.003. Epub 2012 Dec 13.

2.

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. Epub 2005 Dec 9.

3.

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. doi: 10.1016/j.bone.2013.11.008. Epub 2013 Nov 16.

PMID:
24246249
4.

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. doi: 10.1002/ajmg.a.33832. Epub 2011 Feb 22.

5.

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. doi: 10.1210/jc.2009-1535. Epub 2009 Oct 9.

6.

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. doi: 10.1016/j.bone.2012.02.015. Epub 2012 Feb 24. Erratum in: Bone. 2012 May;50(5):1206.

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. doi: 10.1055/s-2008-1076716. Epub 2008 Jun 3.

8.

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. doi: 10.1016/j.bone.2013.10.018. Epub 2013 Oct 29.

9.

Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria.

Ichikawa S, Sorenson AH, Imel EA, Friedman NE, Gertner JM, Econs MJ.

J Clin Endocrinol Metab. 2006 Oct;91(10):4022-7. Epub 2006 Jul 18.

PMID:
16849419
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. doi: 10.4274/jcrpe.601.

11.

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 14;5:1. doi: 10.1186/1750-1172-5-1.

12.

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. Epub 2005 Dec 9.

13.

Association between compound heterozygous mutations of SLC34A3 and hypercalciuria.

Abe Y, Nagasaki K, Watanabe T, Abe T, Fukami M.

Horm Res Paediatr. 2014;82(1):65-71. doi: 10.1159/000360291. Epub 2014 Jun 11.

PMID:
24924704
14.

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. doi: 10.1152/ajprenal.00090.2008. Epub 2008 May 14.

15.

[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. doi: CliCa131014451450. Review. Japanese.

PMID:
24076642
16.

Hereditary hypophosphatemic rickets with hypercalciuria: case report.

Areses-Trapote R, López-García JA, Ubetagoyena-Arrieta M, Eizaguirre A, Sáez-Villaverde R.

Nefrologia. 2012 Jul 17;32(4):529-34. doi: 10.3265/Nefrologia.pre2012.Apr.11321. English, Spanish.

17.

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. Epub 2007 Oct 25.

PMID:
17968493
18.

Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.

Dasgupta D, Wee MJ, Reyes M, Li Y, Simm PJ, Sharma A, Schlingmann KP, Janner M, Biggin A, Lazier J, Gessner M, Chrysis D, Tuchman S, Baluarte HJ, Levine MA, Tiosano D, Insogna K, Hanley DA, Carpenter TO, Ichikawa S, Hoppe B, Konrad M, Sävendahl L, Munns CF, Lee H, Jüppner H, Bergwitz C.

J Am Soc Nephrol. 2014 Oct;25(10):2366-75. doi: 10.1681/ASN.2013101085. Epub 2014 Apr 3.

19.

A patient with hypophosphatemia, a femoral fracture, and recurrent kidney stones: report of a novel mutation in SLC34A3.

Page K, Bergwitz C, Jaureguiberry G, Harinarayan CV, Insogna K.

Endocr Pract. 2008 Oct;14(7):869-74.

20.

Hereditary hypophosphatemias: new genes in the bone-kidney axis.

Negri AL.

Nephrology (Carlton). 2007 Aug;12(4):317-20. Review.

PMID:
17635744

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