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938 related items for PubMed ID: 26107949

  • 1. 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
    [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
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  • 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
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  • 4. 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. 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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  • 6. 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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  • 7. 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 28; 107(10):2883-2891. PubMed ID: 35896147
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  • 8. 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 28; 8(8):e1262. PubMed ID: 32511895
    [Abstract] [Full Text] [Related]

  • 9. PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets.
    Gaucher C, Walrant-Debray O, Nguyen TM, Esterle L, Garabédian M, Jehan F.
    Hum Genet; 2009 May 28; 125(4):401-11. PubMed ID: 19219621
    [Abstract] [Full Text] [Related]

  • 10. 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 28; 87(1):103-112. PubMed ID: 28383812
    [Abstract] [Full Text] [Related]

  • 11. 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 28; 111(6):634-640. PubMed ID: 35831717
    [Abstract] [Full Text] [Related]

  • 12. 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 28; 30(1):137-43. PubMed ID: 25042154
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  • 16. 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 Jan 28; 23(9):1235-1239. PubMed ID: 36847234
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  • 18. Two De Novo Mosaic Variants Within the Same Site of PHEX Gene in a Girl with X-Linked Hypophosphatemic Rickets.
    Lin Y, Zhang W, Huang X, Su L, Cai Y, Liang C, Rao M, Liu L, Zeng C.
    Calcif Tissue Int; 2022 Feb 28; 110(2):266-271. PubMed ID: 34487203
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