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Results: 1 to 20 of 51

1.

Randomized trial of the anti-FGF23 antibody KRN23 in X-linked hypophosphatemia.

Carpenter TO, Imel EA, Ruppe MD, Weber TJ, Klausner MA, Wooddell MM, Kawakami T, Ito T, Zhang X, Humphrey J, Insogna KL, Peacock M.

J Clin Invest. 2014 Apr;124(4):1587-97. doi: 10.1172/JCI72829. Epub 2014 Feb 24.

PMID:
24569459
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Three-year growth hormone treatment in short children with X-linked hypophosphatemic rickets: effects on linear growth and body disproportion.

Živičnjak M, Schnabel D, Staude H, Even G, Marx M, Beetz R, Holder M, Billing H, Fischer DC, Rabl W, Schumacher M, Hiort O, Haffner D; Hypophosphatemic Rickets Study Group of the Arbeitsgemeinschaft für Pädiatrische Endokrinologie and Gesellschaft für Pädiatrische Nephrologie.

J Clin Endocrinol Metab. 2011 Dec;96(12):E2097-105. doi: 10.1210/jc.2011-0399. Epub 2011 Oct 12.

PMID:
21994957
[PubMed - indexed for MEDLINE]
3.

Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type.

Morey M, Castro-Feijóo L, Barreiro J, Cabanas P, Pombo M, Gil M, Bernabeu I, Díaz-Grande JM, Rey-Cordo L, Ariceta G, Rica I, Nieto J, Vilalta R, Martorell L, Vila-Cots J, Aleixandre F, Fontalba A, Soriano-Guillén L, García-Sagredo JM, García-Miñaur S, Rodríguez B, Juaristi S, García-Pardos C, Martínez-Peinado A, Millán JM, Medeira A, Moldovan O, Fernandez A, Loidi L.

BMC Med Genet. 2011 Sep 8;12:116. doi: 10.1186/1471-2350-12-116.

PMID:
21902834
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

A clinician's guide to X-linked hypophosphatemia.

Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL.

J Bone Miner Res. 2011 Jul;26(7):1381-8. doi: 10.1002/jbmr.340. Epub 2011 May 2. Review.

PMID:
21538511
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Tumor-induced osteomalacia.

Chong WH, Molinolo AA, Chen CC, Collins MT.

Endocr Relat Cancer. 2011 Jun 8;18(3):R53-77. doi: 10.1530/ERC-11-0006. Print 2011 Jun. Review.

PMID:
21490240
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

ASARM peptides: PHEX-dependent and -independent regulation of serum phosphate.

David V, Martin A, Hedge AM, Drezner MK, Rowe PS.

Am J Physiol Renal Physiol. 2011 Mar;300(3):F783-91. doi: 10.1152/ajprenal.00304.2010. Epub 2010 Dec 22.

PMID:
21177780
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Age-related stature and linear body segments in children with X-linked hypophosphatemic rickets.

Zivičnjak M, Schnabel D, Billing H, Staude H, Filler G, Querfeld U, Schumacher M, Pyper A, Schröder C, Brämswig J, Haffner D; Hypophosphatemic Rickets Study Group of Arbeitsgemeinschaft für Pädiatrische Endokrinologie and Gesellschaft für Pädiatrische Nephrologie.

Pediatr Nephrol. 2011 Feb;26(2):223-31. doi: 10.1007/s00467-010-1705-9. Epub 2010 Dec 1.

PMID:
21120538
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
21050253
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Phenotype presentation of hypophosphatemic rickets in adults.

Beck-Nielsen SS, Brusgaard K, Rasmussen LM, Brixen K, Brock-Jacobsen B, Poulsen MR, Vestergaard P, Ralston SH, Albagha OM, Poulsen S, Haubek D, Gjørup H, Hintze H, Andersen MG, Heickendorff L, Hjelmborg J, Gram J.

Calcif Tissue Int. 2010 Aug;87(2):108-19. doi: 10.1007/s00223-010-9373-0. Epub 2010 Jun 4.

PMID:
20524110
[PubMed - indexed for MEDLINE]
10.

Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.

Lorenz-Depiereux B, Schnabel D, Tiosano D, Häusler G, Strom TM.

Am J Hum Genet. 2010 Feb 12;86(2):267-72. doi: 10.1016/j.ajhg.2010.01.006. Epub 2010 Feb 4.

PMID:
20137773
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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.

PMID:
20137772
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

FGF23 decreases renal NaPi-2a and NaPi-2c expression and induces hypophosphatemia in vivo predominantly via FGF receptor 1.

Gattineni J, Bates C, Twombley K, Dwarakanath V, Robinson ML, Goetz R, Mohammadi M, Baum M.

Am J Physiol Renal Physiol. 2009 Aug;297(2):F282-91. doi: 10.1152/ajprenal.90742.2008. Epub 2009 Jun 10.

PMID:
19515808
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets.

Clausmeyer S, Hesse V, Clemens PC, Engelbach M, Kreuzer M, Becker-Rose P, Spital H, Schulze E, Raue F.

Calcif Tissue Int. 2009 Sep;85(3):211-20. doi: 10.1007/s00223-009-9260-8. Epub 2009 Jun 10.

PMID:
19513579
[PubMed - indexed for MEDLINE]
14.

Discordance for X-linked hypophosphataemic rickets in identical twin girls.

Owen CJ, Habeb A, Pearce SH, Wright M, Ichikawa S, Sorenson AH, Econs MJ, Cheetham TD.

Horm Res. 2009;71(4):237-44. doi: 10.1159/000201113. Epub 2009 Mar 4.

PMID:
19258716
[PubMed - indexed for MEDLINE]
15.

PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.

Gaucher C, Walrant-Debray O, Nguyen TM, Esterle L, Garabédian M, Jehan F.

Hum Genet. 2009 May;125(4):401-11. doi: 10.1007/s00439-009-0631-z. Epub 2009 Feb 15.

PMID:
19219621
[PubMed - indexed for MEDLINE]
16.

Incidence and prevalence of nutritional and hereditary rickets in southern Denmark.

Beck-Nielsen SS, Brock-Jacobsen B, Gram J, Brixen K, Jensen TK.

Eur J Endocrinol. 2009 Mar;160(3):491-7. doi: 10.1530/EJE-08-0818. Epub 2008 Dec 18.

PMID:
19095780
[PubMed - indexed for MEDLINE]
Free Article
17.

Deformity correction in children with hereditary hypophosphatemic rickets.

Petje G, Meizer R, Radler C, Aigner N, Grill F.

Clin Orthop Relat Res. 2008 Dec;466(12):3078-85. doi: 10.1007/s11999-008-0547-2. Epub 2008 Oct 8.

PMID:
18841431
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Vitamin D receptor genotype in hypophosphatemic rickets as a predictor of growth and response to treatment.

Jehan F, Gaucher C, Nguyen TM, Walrant-Debray O, Lahlou N, Sinding C, Déchaux M, Garabédian M.

J Clin Endocrinol Metab. 2008 Dec;93(12):4672-82. doi: 10.1210/jc.2007-2553. Epub 2008 Sep 30.

PMID:
18827005
[PubMed - indexed for MEDLINE]
19.

Mutational survey of the PHEX gene in patients with X-linked hypophosphatemic rickets.

Ichikawa S, Traxler EA, Estwick SA, Curry LR, Johnson ML, Sorenson AH, Imel EA, Econs MJ.

Bone. 2008 Oct;43(4):663-6. doi: 10.1016/j.bone.2008.06.002. Epub 2008 Jun 18.

PMID:
18625346
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

MEPE-ASARM peptides control extracellular matrix mineralization by binding to hydroxyapatite: an inhibition regulated by PHEX cleavage of ASARM.

Addison WN, Nakano Y, Loisel T, Crine P, McKee MD.

J Bone Miner Res. 2008 Oct;23(10):1638-49. doi: 10.1359/jbmr.080601.

PMID:
18597632
[PubMed - indexed for MEDLINE]
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