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Journal Abstract Search

248 related items for PubMed ID: 25153221

  • 1. 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. PubMed ID: 25153221
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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 Jan; 10(6):e0130729. PubMed ID: 26107949
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  • 3. 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. PubMed ID: 23079138
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  • 5. 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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  • 9. 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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  • 11. [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. PubMed ID: 24229582
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  • 13. 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 Nov; 39(2):182-7. PubMed ID: 19429806
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  • 15. [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
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  • 16. 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
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