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244 related items for PubMed ID: 10874297

  • 1. PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia.
    Sabbagh Y, Jones AO, Tenenhouse HS.
    Hum Mutat; 2000; 16(1):1-6. PubMed ID: 10874297
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets.
    Sato K, Tajima T, Nakae J, Adachi M, Asakura Y, Tachibana K, Suwa S, Katsumata N, Tanaka T, Hayashi Y, Abe S, Murashita M, Okuhara K, Shinohara N, Fujieda K.
    Pediatr Res; 2000 Oct; 48(4):536-40. PubMed ID: 11004247
    [Abstract] [Full Text] [Related]

  • 4. Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets.
    Clausmeyer S, Hesse V, Clemens PC, Engelbach M, Kreuzer M, Becker-Rose P, Spital H, Schulze E, Raue F.
    Calcif Tissue Int; 2009 Sep; 85(3):211-20. PubMed ID: 19513579
    [Abstract] [Full Text] [Related]

  • 5. FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization.
    Quarles LD.
    Am J Physiol Endocrinol Metab; 2003 Jul; 285(1):E1-9. PubMed ID: 12791601
    [Abstract] [Full Text] [Related]

  • 6. Mutational analysis of PHEX gene in X-linked hypophosphatemia.
    Dixon PH, Christie PT, Wooding C, Trump D, Grieff M, Holm I, Gertner JM, Schmidtke J, Shah B, Shaw N, Smith C, Tau C, Schlessinger D, Whyte MP, Thakker RV.
    J Clin Endocrinol Metab; 1998 Oct; 83(10):3615-23. PubMed ID: 9768674
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  • 8. Genetic advances, biochemical and clinical features and critical approach to treatment of patients with X-linked hypophosphatemic rickets.
    Baroncelli GI, Bertelloni S, Sodini F, Galli L, Vanacore T, Fiore L, Saggese G.
    Pediatr Endocrinol Rev; 2004 Jun; 1(4):361-79. PubMed ID: 16437029
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  • 10. Developmental expression and tissue distribution of Phex protein: effect of the Hyp mutation and relationship to bone markers.
    Ruchon AF, Tenenhouse HS, Marcinkiewicz M, Siegfried G, Aubin JE, DesGroseillers L, Crine P, Boileau G.
    J Bone Miner Res; 2000 Aug; 15(8):1440-50. PubMed ID: 10934642
    [Abstract] [Full Text] [Related]

  • 11. cDNA cloning of the murine Pex gene implicated in X-linked hypophosphatemia and evidence for expression in bone.
    Du L, Desbarats M, Viel J, Glorieux FH, Cawthorn C, Ecarot B.
    Genomics; 1996 Aug 15; 36(1):22-8. PubMed ID: 8812412
    [Abstract] [Full Text] [Related]

  • 12. CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
    Pidasheva S, D'Souza-Li L, Canaff L, Cole DE, Hendy GN.
    Hum Mutat; 2004 Aug 15; 24(2):107-11. PubMed ID: 15241791
    [Abstract] [Full Text] [Related]

  • 13. A novel Phex mutation with defective glycosylation causes hypophosphatemia and rickets in mice.
    Xiong X, Qi X, Ge X, Gu P, Zhao J, Zhao Q, Gao X.
    J Biomed Sci; 2008 Jan 15; 15(1):47-59. PubMed ID: 17710565
    [Abstract] [Full Text] [Related]

  • 14. Coordinated maturational regulation of PHEX and renal phosphate transport inhibitory activity: evidence for the pathophysiological role of PHEX in X-linked hypophosphatemia.
    Nesbitt T, Fujiwara I, Thomas R, Xiao ZS, Quarles LD, Drezner MK.
    J Bone Miner Res; 1999 Dec 15; 14(12):2027-35. PubMed ID: 10620061
    [Abstract] [Full Text] [Related]

  • 15. X-linked hypophosphataemia: a homologous disorder in humans and mice.
    Tenenhouse HS.
    Nephrol Dial Transplant; 1999 Feb 15; 14(2):333-41. PubMed ID: 10069185
    [Abstract] [Full Text] [Related]

  • 16. 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 Feb 15; 103(4):p157-63. PubMed ID: 16636593
    [Abstract] [Full Text] [Related]

  • 17. Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets.
    Holm IA, Nelson AE, Robinson BG, Mason RS, Marsh DJ, Cowell CT, Carpenter TO.
    J Clin Endocrinol Metab; 2001 Aug 15; 86(8):3889-99. PubMed ID: 11502829
    [Abstract] [Full Text] [Related]

  • 18. The PEX gene: its role in X-linked rickets, osteomalacia, and bone mineral metabolism.
    Rowe PS.
    Exp Nephrol; 1997 Aug 15; 5(5):355-63. PubMed ID: 9386970
    [No Abstract] [Full Text] [Related]

  • 19. Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH).
    Sarafrazi S, Daugherty SC, Miller N, Boada P, Carpenter TO, Chunn L, Dill K, Econs MJ, Eisenbeis S, Imel EA, Johnson B, Kiel MJ, Krolczyk S, Ramesan P, Truty R, Sabbagh Y.
    Hum Mutat; 2022 Feb 15; 43(2):143-157. PubMed ID: 34806794
    [Abstract] [Full Text] [Related]

  • 20. Increased cathepsin D release by Hyp mouse osteoblast cells.
    Matsumoto N, Jo OD, Shih RN, Brochmann EJ, Murray SS, Hong V, Yanagawa J, Yanagawa N.
    Am J Physiol Endocrinol Metab; 2005 Jul 15; 289(1):E123-32. PubMed ID: 15958652
    [Abstract] [Full Text] [Related]

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