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Items: 1 to 20 of 152

1.

Hypophosphatemic rickets.

Baroncelli GI, Toschi B, Bertelloni S.

Curr Opin Endocrinol Diabetes Obes. 2012 Dec;19(6):460-7. doi: 10.1097/MED.0b013e328358be97. Review.

PMID:
23108197
2.

Mutational analysis of patients with FGF23-related hypophosphatemic rickets.

Kinoshita Y, Saito T, Shimizu Y, Hori M, Taguchi M, Igarashi T, Fukumoto S, Fujita T.

Eur J Endocrinol. 2012 Aug;167(2):165-72. doi: 10.1530/EJE-12-0071. Epub 2012 May 10.

3.

A patient with hypophosphatemic rickets and ossification of posterior longitudinal ligament caused by a novel homozygous mutation in ENPP1 gene.

Saito T, Shimizu Y, Hori M, Taguchi M, Igarashi T, Fukumoto S, Fujitab T.

Bone. 2011 Oct;49(4):913-6. doi: 10.1016/j.bone.2011.06.029. Epub 2011 Jul 2.

PMID:
21745613
4.

Familial hypophosphatemic rickets caused by a large deletion in PHEX gene.

Saito T, Nishii Y, Yasuda T, Ito N, Suzuki H, Igarashi T, Fukumoto S, Fujita T.

Eur J Endocrinol. 2009 Oct;161(4):647-51. doi: 10.1530/EJE-09-0261. Epub 2009 Jul 6.

5.

Pathogenic role of Fgf23 in Dmp1-null mice.

Liu S, Zhou J, Tang W, Menard R, Feng JQ, Quarles LD.

Am J Physiol Endocrinol Metab. 2008 Aug;295(2):E254-61. doi: 10.1152/ajpendo.90201.2008. Epub 2008 Jun 17.

6.

A clinical and molecular genetic study of hypophosphatemic rickets in children.

Cho HY, Lee BH, Kang JH, Ha IS, Cheong HI, Choi Y.

Pediatr Res. 2005 Aug;58(2):329-33. Epub 2005 Jul 31.

PMID:
16055933
7.

A Novel PHEX Mutation in Japanese Patients with X-Linked Hypophosphatemic Rickets.

Kawahara T, Watanabe H, Omae R, Yamamoto T, Inazu T.

Case Rep Genet. 2015;2015:301264. doi: 10.1155/2015/301264. Epub 2015 Mar 15.

8.
9.

An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation.

Gribaa M, Younes M, Bouyacoub Y, Korbaa W, Ben Charfeddine I, Touzi M, Adala L, Mamay O, Bergaoui N, Saad A.

J Bone Miner Metab. 2010;28(1):111-5. doi: 10.1007/s00774-009-0111-5. Epub 2009 Aug 5.

PMID:
19655082
10.

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.

11.

FGF23 analysis of a Chinese family with autosomal dominant hypophosphatemic rickets.

Sun Y, Wang O, Xia W, Jiang Y, Li M, Xing X, Hu Y, Liu H, Meng X, Zhou X.

J Bone Miner Metab. 2012 Jan;30(1):78-84. doi: 10.1007/s00774-011-0285-5. Epub 2011 Jun 28.

PMID:
21710177
12.

Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets.

Ruppe MD, Brosnan PG, Au KS, Tran PX, Dominguez BW, Northrup H.

Clin Endocrinol (Oxf). 2011 Mar;74(3):312-8. doi: 10.1111/j.1365-2265.2010.03919.x.

13.

FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets.

Imel EA, Hui SL, Econs MJ.

J Bone Miner Res. 2007 Apr;22(4):520-6.

14.

[X-linked hypophosphatemic rickets].

Michigami T.

Nihon Naika Gakkai Zasshi. 2007 Apr 10;96(4):725-30. Review. Japanese. No abstract available.

PMID:
17506311
15.

Fibroblast growth factor 23 and its receptors.

Yu X, White KE.

Ther Apher Dial. 2005 Aug;9(4):308-12. Review.

PMID:
16076372
17.

Clinical usefulness of measurement of fibroblast growth factor 23 (FGF23) in hypophosphatemic patients: proposal of diagnostic criteria using FGF23 measurement.

Endo I, Fukumoto S, Ozono K, Namba N, Tanaka H, Inoue D, Minagawa M, Sugimoto T, Yamauchi M, Michigami T, Matsumoto T.

Bone. 2008 Jun;42(6):1235-9. doi: 10.1016/j.bone.2008.02.014. Epub 2008 Mar 5.

PMID:
18396126
18.

Therapeutic effects of anti-FGF23 antibodies in hypophosphatemic rickets/osteomalacia.

Aono Y, Yamazaki Y, Yasutake J, Kawata T, Hasegawa H, Urakawa I, Fujita T, Wada M, Yamashita T, Fukumoto S, Shimada T.

J Bone Miner Res. 2009 Nov;24(11):1879-88. doi: 10.1359/jbmr.090509.

19.

Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.

Levy-Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, Chalifa-Caspi V, Manor E, Buriakovsky S, Hadad Y, Goding J, Parvari R.

Am J Hum Genet. 2010 Feb 12;86(2):273-8. doi: 10.1016/j.ajhg.2010.01.010. Epub 2010 Feb 4.

20.

Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice.

Farrow EG, Yu X, Summers LJ, Davis SI, Fleet JC, Allen MR, Robling AG, Stayrook KR, Jideonwo V, Magers MJ, Garringer HJ, Vidal R, Chan RJ, Goodwin CB, Hui SL, Peacock M, White KE.

Proc Natl Acad Sci U S A. 2011 Nov 15;108(46):E1146-55. doi: 10.1073/pnas.1110905108. Epub 2011 Oct 17.

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