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Items: 1 to 20 of 120

1.

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. Epub 2011 Feb 4.

2.

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. Epub 2007 Nov 29.

PMID:
18046499
3.

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. Epub 2012 Jun 16.

PMID:
22713460
4.

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. Epub 2012 Oct 16.

PMID:
23079138
5.

PHEX gene mutation in a Chinese family with six cases of X-linked hypophosphatemic rickets.

Yang L, Yang J, Huang X.

J Pediatr Endocrinol Metab. 2013;26(11-12):1179-83. doi: 10.1515/jpem-2013-0101. Review.

PMID:
23813354
6.

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. Epub 2012 Jun 14.

PMID:
22695891
7.

[Three PHEX gene mutations in Chinese subjects with hypophosphatemic rickets and literature review].

Liu S, Wei M, Xiao J, Wang CY, Qiu ZQ.

Zhongguo Dang Dai Er Ke Za Zhi. 2014 May;16(5):518-23. Chinese.

PMID:
24857004
8.

Identification of two novel mutations in the PHEX gene in Chinese patients with hypophosphatemic rickets/osteomalacia.

Yue H, Yu JB, He JW, Zhang Z, Fu WZ, Zhang H, Wang C, Hu WW, Gu JM, Hu YQ, Li M, Liu YJ, Zhang ZL.

PLoS One. 2014 May 16;9(5):e97830. doi: 10.1371/journal.pone.0097830. eCollection 2014.

9.

Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets.

Li SS, Gu JM, Yu WJ, He JW, Fu WZ, Zhang ZL.

Int J Mol Med. 2016 Dec;38(6):1703-1714. doi: 10.3892/ijmm.2016.2796. Epub 2016 Nov 7.

10.

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
11.

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
12.

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
13.

High iFGF23 level despite hypophosphatemia is one of the clinical indicators to make diagnosis of XLH.

Igaki JM, Yamada M, Yamazaki Y, Koto S, Izawa M, Ariyasu D, Suzuki E, Hasegawa H, Hasegawa Y.

Endocr J. 2011;58(8):647-55. Epub 2011 May 19.

14.

[Gene mutation analysis of X-linked hypophosphatemic rickets].

Song Y, Ma HW, Li F, Hu M, Ren S, Yu YF, Zhao GJ.

Zhongguo Dang Dai Er Ke Za Zhi. 2013 Nov;15(11):928-31. Chinese.

PMID:
24229582
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
16.

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. Epub 2011 May 6. Review.

PMID:
21553362
17.

Hypophosphatemic rickets caused by a novel splice donor site mutation and activation of two cryptic splice donor sites in the PHEX gene.

Zou M, Buluş D, Al-Rijjal RA, Andıran N, BinEssa H, Kattan WE, Meyer B, Shi Y.

J Pediatr Endocrinol Metab. 2015 Jan;28(1-2):211-6. doi: 10.1515/jpem-2014-0103.

PMID:
25153221
18.

Prenatal diagnosis for a novel splice mutation of PHEX gene in a large Han Chinese family affected with X-linked hypophosphatemic rickets.

Qiu G, Liu C, Zhou J, Liu P, Wang J, Jiang H, Hou Z, Zhao Y, Sun K, Li-Ling J.

Genet Test Mol Biomarkers. 2010 Jun;14(3):385-91. doi: 10.1089/gtmb.2009.0175.

PMID:
20578943
19.

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.

20.

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. Epub 2015 Mar 31.

PMID:
25839938

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