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Items: 1 to 20 of 182

1.

Novel PHEX nonsense mutation in a patient with X-linked hypophosphatemic rickets and review of current therapeutic regimens.

Kienitz T, Ventz M, Kaminsky E, Quinkler M.

Exp Clin Endocrinol Diabetes. 2011 Jul;119(7):431-5. doi: 10.1055/s-0031-1277162. Review.

PMID:
21553362
2.

A novel PHEX mutation in a Korean patient with sporadic hypophosphatemic rickets.

Kim J, Yang KH, Nam JS, Choi JR, Song J, Chang M, Lee KA.

Ann Clin Lab Sci. 2009 Spring;39(2):182-7.

PMID:
19429806
3.

Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets.

Xia W, Meng X, Jiang Y, Li M, Xing X, Pang L, Wang O, Pei Y, Yu LY, Sun Y, Hu Y, Zhou X.

Calcif Tissue Int. 2007 Dec;81(6):415-20.

PMID:
18046499
4.

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.

5.

Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets.

Kang QL, Xu J, Zhang Z, He JW, Lu LS, Fu WZ, Zhang ZL.

Biochem Biophys Res Commun. 2012 Jul 13;423(4):793-8. doi: 10.1016/j.bbrc.2012.06.042.

PMID:
22713460
6.

Novel PHEX mutation associated with hypophosphatemic rickets.

Roetzer KM, Varga F, Zwettler E, Nawrot-Wawrzyniak K, Haller J, Forster E, Klaushofer K.

Nephron Physiol. 2007;106(1):p8-12.

PMID:
17406123
7.

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.

PMID:
19219621
8.

A novel Phex mutation in a new mouse model of hypophosphatemic rickets.

Owen C, Chen F, Flenniken AM, Osborne LR, Ichikawa S, Adamson SL, Rossant J, Aubin JE.

J Cell Biochem. 2012 Jul;113(7):2432-41. doi: 10.1002/jcb.24115.

PMID:
22573557
9.

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.

PMID:
19513579
10.

[Hypophosphatemic rickets/osteomalacia. - Mainly on patients with PHEX mutations -].

Hasegawa Y, Miyamoto J.

Clin Calcium. 2007 Oct;17(10):1592-9. Review. Japanese.

PMID:
17906414
11.

Novel and de novo PHEX mutations in patients with hypophosphatemic rickets.

Durmaz E, Zou M, Al-Rijjal RA, Baitei EY, Hammami S, Bircan I, Akçurin S, Meyer B, Shi Y.

Bone. 2013 Jan;52(1):286-91. doi: 10.1016/j.bone.2012.10.012.

PMID:
23079138
12.

A novel Phex mutation with defective glycosylation causes hypophosphatemia and rickets in mice.

Xiong X, Qi X, Ge X, Gu P, Zhao J, Zhao Q, Gao X.

J Biomed Sci. 2008 Jan;15(1):47-59.

PMID:
17710565
13.

Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets.

Beck-Nielsen SS, Brixen K, Gram J, Brusgaard K.

J Hum Genet. 2012 Jul;57(7):453-8. doi: 10.1038/jhg.2012.56.

PMID:
22695891
14.

Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets.

Huang Y, Mei L, Pan Q, Tan H, Quan Y, Gui B, Chang J, Ma R, Peng Y, Yang P, Liang D, Wu L.

Gene. 2015 Jul 1;565(1):150-4. doi: 10.1016/j.gene.2015.03.066.

PMID:
25839938
15.

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.

PMID:
16055933
16.

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.

PMID:
21745613
17.

X-linked hypophosphatemic rickets and craniosynostosis.

Murthy AS.

J Craniofac Surg. 2009 Mar;20(2):439-42. doi: 10.1097/SCS.0b013e31819b9868. Review.

PMID:
19242361
18.

Three novel mutations in the PHEX gene in Chinese subjects with hypophosphatemic rickets extends genotypic variability.

Jap TS, Chiu CY, Niu DM, Levine MA.

Calcif Tissue Int. 2011 May;88(5):370-7. doi: 10.1007/s00223-011-9465-5.

19.

The expanding family of hypophosphatemic syndromes.

Carpenter TO.

J Bone Miner Metab. 2012 Jan;30(1):1-9. doi: 10.1007/s00774-011-0340-2. Review.

PMID:
22167381
20.

Cinacalcet in hyperparathyroidism secondary to X-linked hypophosphatemic rickets: case report and brief literature review.

Yavropoulou MP, Kotsa K, Gotzamani Psarrakou A, Papazisi A, Tranga T, Ventis S, Yovos JG.

Hormones (Athens). 2010 Jul-Sep;9(3):274-8. Review.

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