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Journal Abstract Search

330 related items for PubMed ID: 20578943

  • 1. 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
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  • 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 Jun; 10(6):e0130729. PubMed ID: 26107949
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  • 3. 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
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  • 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 Aug; 26(11-12):1179-83. PubMed ID: 23813354
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  • 6. 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
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  • 7. 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
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  • 9. 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
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  • 10. 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 Dec; 106(1):p8-12. PubMed ID: 17406123
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  • 11. [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 10; 34(2):216-219. PubMed ID: 28397222
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  • 12. [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 10; 16(5):518-23. PubMed ID: 24857004
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  • 17. Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets.
    Lo FS, Kuo MT, Wang CJ, Chang CH, Lee ZL, Van YH.
    Nephron Physiol; 2006 May 10; 103(4):p157-63. PubMed ID: 16636593
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  • 19. 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 May 10; 116(3):p17-21. PubMed ID: 20664300
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