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Journal Abstract Search

355 related items for PubMed ID: 29901142

  • 21.
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  • 23. Identification of a novel PHEX mutation in a Chinese family with X-linked hypophosphatemic rickets using exome sequencing.
    Yuan L, Wu S, Xu H, Xiao J, Yang Z, Xia H, Liu A, Hu P, Lu A, Chen Y, Xu F, Deng H.
    Biol Chem; 2015 Jan; 396(1):27-33. PubMed ID: 25060345
    [Abstract] [Full Text] [Related]

  • 24. Levels and dynamic changes of serum fibroblast growth factor 23 in hypophosphatemic rickets/osteomalacia.
    Xia WB, Jiang Y, Li M, Xing XP, Wang O, Hu YY, Zhang HB, Liu HC, Meng XW, Zhou XY.
    Chin Med J (Engl); 2010 May 05; 123(9):1158-62. PubMed ID: 20529556
    [Abstract] [Full Text] [Related]

  • 25. Renal phosphate wasting disorders: clinical features and pathogenesis.
    Brame LA, White KE, Econs MJ.
    Semin Nephrol; 2004 Jan 05; 24(1):39-47. PubMed ID: 14730508
    [Abstract] [Full Text] [Related]

  • 26. 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 05; 81(6):415-20. PubMed ID: 18046499
    [Abstract] [Full Text] [Related]

  • 27. A novel Phex mutation in a new mouse model of hypophosphatemic rickets.
    Owen C, Chen F, Flenniken AM, Osborne LR, Ichikawa S, Adamson SL, Rossant J, Aubin JE.
    J Cell Biochem; 2012 Jul 05; 113(7):2432-41. PubMed ID: 22573557
    [Abstract] [Full Text] [Related]

  • 28. Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism.
    Feng JQ, Ward LM, Liu S, Lu Y, Xie Y, Yuan B, Yu X, Rauch F, Davis SI, Zhang S, Rios H, Drezner MK, Quarles LD, Bonewald LF, White KE.
    Nat Genet; 2006 Nov 05; 38(11):1310-5. PubMed ID: 17033621
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  • 29. Identification of six novel variants from nine Chinese families with hypophosphatemic rickets.
    Cao Y, You Y, Wang Q, Ren X, Li S, Li L, Xia W, Guan X, Yang T, Ikegawa S, Wang Z, Zhao X.
    BMC Med Genomics; 2022 Jul 16; 15(1):161. PubMed ID: 35842615
    [Abstract] [Full Text] [Related]

  • 30. Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets.
    Beck-Nielsen SS, Brixen K, Gram J, Brusgaard K.
    J Hum Genet; 2012 Jul 16; 57(7):453-8. PubMed ID: 22695891
    [Abstract] [Full Text] [Related]

  • 31. Hypophosphatemic rickets and osteomalacia.
    de Menezes Filho H, de Castro LC, Damiani D.
    Arq Bras Endocrinol Metabol; 2006 Aug 16; 50(4):802-13. PubMed ID: 17117305
    [Abstract] [Full Text] [Related]

  • 32. Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets.
    Huang Y, Mei L, Pan Q, Tan H, Quan Y, Gui B, Chang J, Ma R, Peng Y, Yang P, Liang D, Wu L.
    Gene; 2015 Jul 01; 565(1):150-4. PubMed ID: 25839938
    [Abstract] [Full Text] [Related]

  • 33. Genetic diagnosis of X-linked dominant Hypophosphatemic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type.
    Morey M, Castro-Feijóo L, Barreiro J, Cabanas P, Pombo M, Gil M, Bernabeu I, Díaz-Grande JM, Rey-Cordo L, Ariceta G, Rica I, Nieto J, Vilalta R, Martorell L, Vila-Cots J, Aleixandre F, Fontalba A, Soriano-Guillén L, García-Sagredo JM, García-Miñaur S, Rodríguez B, Juaristi S, García-Pardos C, Martínez-Peinado A, Millán JM, Medeira A, Moldovan O, Fernandez A, Loidi L.
    BMC Med Genet; 2011 Sep 08; 12():116. PubMed ID: 21902834
    [Abstract] [Full Text] [Related]

  • 34. [Mutation analysis of four pedigrees affected with hypophosphatemic rickets through targeted next-generation sequencing].
    Bai Y, Liu N, Shao M, Qin G, Gao X, Kong X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Oct 10; 35(5):638-643. PubMed ID: 30298485
    [Abstract] [Full Text] [Related]

  • 35. Osteocytes and the pathogenesis of hypophosphatemic rickets.
    Yamazaki M, Michigami T.
    Front Endocrinol (Lausanne); 2022 Oct 10; 13():1005189. PubMed ID: 36246908
    [Abstract] [Full Text] [Related]

  • 36. 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 10; 86(8):3889-99. PubMed ID: 11502829
    [Abstract] [Full Text] [Related]

  • 37. Novel PHEX nonsense mutation in a patient with X-linked hypophosphatemic rickets and review of current therapeutic regimens.
    Kienitz T, Ventz M, Kaminsky E, Quinkler M.
    Exp Clin Endocrinol Diabetes; 2011 Jul 10; 119(7):431-5. PubMed ID: 21553362
    [Abstract] [Full Text] [Related]

  • 38. FGF23, PHEX, and MEPE regulation of phosphate homeostasis and skeletal mineralization.
    Quarles LD.
    Am J Physiol Endocrinol Metab; 2003 Jul 10; 285(1):E1-9. PubMed ID: 12791601
    [Abstract] [Full Text] [Related]

  • 39. 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 10; 14(3):385-91. PubMed ID: 20578943
    [Abstract] [Full Text] [Related]

  • 40. 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
    [Abstract] [Full Text] [Related]

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