420 related articles for article (PubMed ID: 29858904)
1. Genetic analysis of three families with X-linked dominant hypophosphatemic rickets.
Lin X; Zhu Y; Luo J; Huang J
J Pediatr Endocrinol Metab; 2018 Jul; 31(7):789-797. PubMed ID: 29858904
[TBL] [Abstract][Full Text] [Related]
2. 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. PubMed ID: 27840894
[TBL] [Abstract][Full Text] [Related]
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; 423(4):793-8. PubMed ID: 22713460
[TBL] [Abstract][Full Text] [Related]
4. 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; 565(1):150-4. PubMed ID: 25839938
[TBL] [Abstract][Full Text] [Related]
5. Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription.
Gan YM; Zhang YP; Ruan DD; Huang JB; Zhu YB; Lin XF; Xiao XP; Cheng Q; Geng ZB; Liao LS; Tang FQ; Luo JW
Cell Death Dis; 2022 Jun; 13(6):518. PubMed ID: 35654784
[TBL] [Abstract][Full Text] [Related]
6. A novel c.2179T>C mutation blocked the intracellular transport of PHEX protein and caused X-linked hypophosphatemic rickets in a Chinese family.
Li B; Wang X; Hao X; Liu Y; Wang Y; Shan C; Ao X; Liu Y; Bao H; Li P
Mol Genet Genomic Med; 2020 Aug; 8(8):e1262. PubMed ID: 32511895
[TBL] [Abstract][Full Text] [Related]
7. 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; 9(5):e97830. PubMed ID: 24836714
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 23813354
[TBL] [Abstract][Full Text] [Related]
9. Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia.
Zhang C; Zhao Z; Sun Y; Xu L; JiaJue R; Cui L; Pang Q; Jiang Y; Li M; Wang O; He X; He S; Nie M; Xing X; Meng X; Zhou X; Yan L; Kaplan JM; Insogna KL; Xia W
Bone; 2019 Apr; 121():212-220. PubMed ID: 30682568
[TBL] [Abstract][Full Text] [Related]
10. Novel PHEX gene mutation associated with X linked hypophosphatemic rickets.
Chandran M; Chng CL; Zhao Y; Bee YM; Phua LY; Clarke BL
Nephron Physiol; 2010; 116(3):p17-21. PubMed ID: 20664300
[TBL] [Abstract][Full Text] [Related]
11. Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.
Ma SL; Vega-Warner V; Gillies C; Sampson MG; Kher V; Sethi SK; Otto EA
PLoS One; 2015; 10(6):e0130729. PubMed ID: 26107949
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 18046499
[TBL] [Abstract][Full Text] [Related]
13. PHEX 3'-UTR c.*231A>G near the polyadenylation signal is a relatively common, mild, American mutation that masquerades as sporadic or X-linked recessive hypophosphatemic rickets.
Mumm S; Huskey M; Cajic A; Wollberg V; Zhang F; Madson KL; Wenkert D; McAlister WH; Gottesman GS; Whyte MP
J Bone Miner Res; 2015 Jan; 30(1):137-43. PubMed ID: 25042154
[TBL] [Abstract][Full Text] [Related]
14. Familial hypophosphatemic rickets caused by a PHEX gene mutation accompanied by a NPR2 missense mutation.
Zhao Y; Yang F; Wang L; Che H
J Pediatr Endocrinol Metab; 2020 Feb; 33(2):305-311. PubMed ID: 31927522
[TBL] [Abstract][Full Text] [Related]
15. Genotype-phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling.
Ishihara Y; Ohata Y; Takeyari S; Kitaoka T; Fujiwara M; Nakano Y; Yamamoto K; Yamada C; Yamamoto K; Michigami T; Mabe H; Yamaguchi T; Matsui K; Tamada I; Namba N; Yamamoto A; Etoh J; Kawaguchi A; Kosugi R; Ozono K; Kubota T
Bone; 2021 Dec; 153():116135. PubMed ID: 34333162
[TBL] [Abstract][Full Text] [Related]
16. [Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases].
Ran Q; Xiong F; Zhu M; Deng LL; Lei PY; Luo YH; Zeng Y; Zhu GH; Song C
Zhongguo Dang Dai Er Ke Za Zhi; 2017 May; 19(5):534-538. PubMed ID: 28506344
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 18625346
[TBL] [Abstract][Full Text] [Related]
18. Analysis of 2 novel mutations of PHEX gene inducing X-linked dominant hypophosphatemia rickets in 2 families: Two case reports.
Gao Y; Wang ZM; Li XL
Medicine (Baltimore); 2018 Aug; 97(31):e11453. PubMed ID: 30075510
[TBL] [Abstract][Full Text] [Related]
19. [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. PubMed ID: 24857004
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
