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Journal Abstract Search

496 related items for PubMed ID: 27840894

  • 1. 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
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  • 5. 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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  • 6. 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 Oct; 9(5):e97830. PubMed ID: 24836714
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  • 7. 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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  • 8. [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 10; 35(5):644-647. PubMed ID: 30298486
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  • 9. 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 10; 28(1-2):211-6. PubMed ID: 25153221
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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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  • 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 10; 41(4):2012-2020. PubMed ID: 29393334
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  • 15. Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.
    Guven A, Al-Rijjal RA, BinEssa HA, Dogan D, Kor Y, Zou M, Kaya N, Alenezi AF, Hancili S, Tarım Ö, Baitei EY, Kattan WE, Meyer BF, Shi Y.
    Clin Endocrinol (Oxf); 2017 Jul 10; 87(1):103-112. PubMed ID: 28383812
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  • 16. 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 Jul 10; 26(11-12):1179-83. PubMed ID: 23813354
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  • 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 10; 43(4):663-6. PubMed ID: 18625346
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  • 18. A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic Rickets.
    Terracciano A, De Bernardi ML, Novizio R, De Brasi D, Iolascon A, Monica MD, Scavuzzo F, Serino D, Novelli A, Piscopo C.
    Endocr Metab Immune Disord Drug Targets; 2023 Oct 10; 23(9):1235-1239. PubMed ID: 36847234
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  • 19. 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 10; 125():186-193. PubMed ID: 31102713
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  • 20. [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 10; 15(11):928-31. PubMed ID: 24229582
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