203 related articles for article (PubMed ID: 28397222)
1. [Identification of a novel splicing mutation of PHEX gene in a pedigree affected with X-linked hypophosphatemia].
Li J; Xu P; Huang S; Gao M; Zou Y; Kang R; Gao Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Apr; 34(2):216-219. PubMed ID: 28397222
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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. PubMed ID: 20578943
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. A Unique Mechanism of a Novel Synonymous PHEX Variant Causing X-Linked Hypophosphatemia.
Alhamoudi KM; Alghamdi B; Alswailem M; Nasir A; Aljomaiah A; Al-Hindi H; Alzahrani AS
J Clin Endocrinol Metab; 2022 Sep; 107(10):2883-2891. PubMed ID: 35896147
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. [Analysis of PHEX gene mutations in three pedigrees affected with hypophosphatemic rickets].
Zhang S; Zhang Q; Cheng L; Huang X; Peng Y; Liang Z; Guo H; Pan Q
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Oct; 35(5):644-647. PubMed ID: 30298486
[TBL] [Abstract][Full Text] [Related]
8. A Novel Synonymous Variant of PHEX in a Patient with X-Linked Hypophosphatemia.
Ma X; Pang Q; Zhang Q; Jiang Y; Wang O; Li M; Xing X; Xia W
Calcif Tissue Int; 2022 Dec; 111(6):634-640. PubMed ID: 35831717
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 17406123
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the
Fraga G; Herreros MA; Pybus M; Aza-Carmona M; Pilco-Teran M; Furlano M; García-Borau MJ; Torra R; Ars E
Genes (Basel); 2024 May; 15(6):. PubMed ID: 38927615
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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. PubMed ID: 19581284
[TBL] [Abstract][Full Text] [Related]
14. Two novel variants of the PHEX gene in patients with X‑linked dominant hypophosphatemic rickets and prenatal diagnosis for fetuses in these families.
Liao H; Zhu HM; Liu HQ; Li LP; Liu SL; Wang H
Int J Mol Med; 2018 Apr; 41(4):2012-2020. PubMed ID: 29393334
[TBL] [Abstract][Full Text] [Related]
15. CRISPR/Cas9-mediated mutation of PHEX in rabbit recapitulates human X-linked hypophosphatemia (XLH).
Sui T; Yuan L; Liu H; Chen M; Deng J; Wang Y; Li Z; Lai L
Hum Mol Genet; 2016 Jul; 25(13):2661-2671. PubMed ID: 27126636
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 22577109
[TBL] [Abstract][Full Text] [Related]
17. Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets.
BinEssa HA; Zou M; Al-Enezi AF; Alomrani B; Al-Faham MSA; Al-Rijjal RA; Meyer BF; Shi Y
Bone; 2019 Aug; 125():186-193. PubMed ID: 31102713
[TBL] [Abstract][Full Text] [Related]
18. Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3.
Acar S; BinEssa HA; Demir K; Al-Rijjal RA; Zou M; Çatli G; Anık A; Al-Enezi AF; Özışık S; Al-Faham MSA; Abacı A; Dündar B; Kattan WE; Alsagob M; Kavukçu S; Tamimi HE; Meyer BF; Böber E; Shi Y
PLoS One; 2018; 13(3):e0193388. PubMed ID: 29505567
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. A mosaic mutation of phosphate-regulating gene with homologies to endopeptidases on the X chromosome (PHEX) in X-linked hypophosphatemic rickets with mild bone phenotypes.
Asano S; Sako S; Funasaki Y; Takeshita Y; Niida Y; Takamura T
Endocr J; 2021 Sep; 68(9):1135-1141. PubMed ID: 33907069
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
