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Journal Abstract Search

186 related items for PubMed ID: 14672344

  • 1. Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype.
    Chong B, Hegde M, Fawkner M, Simonet S, Cassinelli H, Coker M, Kanis J, Seidel J, Tau C, Tüysüz B, Yüksel B, Love D, International Hyperphosphatasia Collaborative Group.
    J Bone Miner Res; 2003 Dec; 18(12):2095-104. PubMed ID: 14672344
    [Abstract] [Full Text] [Related]

  • 2. Deletion of aspartate 182 in OPG causes juvenile Paget's disease by impairing both protein secretion and binding to RANKL.
    Middleton-Hardie C, Zhu Q, Cundy H, Lin JM, Callon K, Tong PC, Xu J, Grey A, Cornish J, Naot D.
    J Bone Miner Res; 2006 Mar; 21(3):438-45. PubMed ID: 16491292
    [Abstract] [Full Text] [Related]

  • 3. Juvenile Paget's disease: the second reported, oldest patient is homozygous for the TNFRSF11B "Balkan" mutation (966_969delTGACinsCTT), which elevates circulating immunoreactive osteoprotegerin levels.
    Whyte MP, Singhellakis PN, Petersen MB, Davies M, Totty WG, Mumm S.
    J Bone Miner Res; 2007 Jun; 22(6):938-46. PubMed ID: 17352649
    [Abstract] [Full Text] [Related]

  • 4. An intermediate form of juvenile Paget's disease caused by a truncating TNFRSF11B mutation.
    Janssens K, de Vernejoul MC, de Freitas F, Vanhoenacker F, Van Hul W.
    Bone; 2005 Mar; 36(3):542-8. PubMed ID: 15777670
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  • 6. Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling.
    Whyte MP.
    Ann N Y Acad Sci; 2006 Apr; 1068():143-64. PubMed ID: 16831914
    [Abstract] [Full Text] [Related]

  • 7. Osteoprotegerin deficiency and juvenile Paget's disease.
    Whyte MP, Obrecht SE, Finnegan PM, Jones JL, Podgornik MN, McAlister WH, Mumm S.
    N Engl J Med; 2002 Jul 18; 347(3):175-84. PubMed ID: 12124406
    [Abstract] [Full Text] [Related]

  • 8. Susceptibility to Paget's disease of bone is influenced by a common polymorphic variant of osteoprotegerin.
    Daroszewska A, Hocking LJ, McGuigan FE, Langdahl B, Stone MD, Cundy T, Nicholson GC, Fraser WD, Ralston SH.
    J Bone Miner Res; 2004 Sep 18; 19(9):1506-11. PubMed ID: 15312251
    [Abstract] [Full Text] [Related]

  • 9. Alport syndrome. Molecular genetic aspects.
    Hertz JM.
    Dan Med Bull; 2009 Aug 18; 56(3):105-52. PubMed ID: 19728970
    [Abstract] [Full Text] [Related]

  • 10. Novel homozygous mutations in the osteoprotegerin gene TNFRSF11B in two unrelated patients with juvenile Paget's disease.
    Naot D, Choi A, Musson DS, Simsek Kiper PÖ, Utine GE, Boduroglu K, Peacock M, DiMeglio LA, Cundy T.
    Bone; 2014 Nov 18; 68():6-10. PubMed ID: 25108083
    [Abstract] [Full Text] [Related]

  • 11. Loss of chaotic trabecular structure in OPG-deficient juvenile Paget's disease patients indicates a chaogenic role for OPG in nonlinear pattern formation of trabecular bone.
    Salmon P.
    J Bone Miner Res; 2004 May 18; 19(5):695-702. PubMed ID: 15068491
    [Abstract] [Full Text] [Related]

  • 12. Polymorphisms in the osteoprotegerin gene are associated with osteoporotic fractures.
    Langdahl BL, Carstens M, Stenkjaer L, Eriksen EF.
    J Bone Miner Res; 2002 Jul 18; 17(7):1245-55. PubMed ID: 12096838
    [Abstract] [Full Text] [Related]

  • 13. The ratio of messenger RNA levels of receptor activator of nuclear factor kappaB ligand to osteoprotegerin correlates with bone remodeling indices in normal human cancellous bone but not in osteoarthritis.
    Fazzalari NL, Kuliwaba JS, Atkins GJ, Forwood MR, Findlay DM.
    J Bone Miner Res; 2001 Jun 18; 16(6):1015-27. PubMed ID: 11393778
    [Abstract] [Full Text] [Related]

  • 14. Novel mutations in epithelial sodium channel (ENaC) subunit genes and phenotypic expression of multisystem pseudohypoaldosteronism.
    Edelheit O, Hanukoglu I, Gizewska M, Kandemir N, Tenenbaum-Rakover Y, Yurdakök M, Zajaczek S, Hanukoglu A.
    Clin Endocrinol (Oxf); 2005 May 18; 62(5):547-53. PubMed ID: 15853823
    [Abstract] [Full Text] [Related]

  • 15. [Role of OPG in regulation of bone remodeling].
    Nakamichi Y, Udagawa N.
    Clin Calcium; 2006 Sep 18; 16(9):1463-68. PubMed ID: 16951469
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  • 17. Osteoprotegerin (OPG)/RANK-L system in juvenile idiopathic arthritis: is there a potential modulating role for OPG/RANK-L in bone injury?
    Masi L, Simonini G, Piscitelli E, Del Monte F, Giani T, Cimaz R, Vierucci S, Brandi ML, Falcini F.
    J Rheumatol; 2004 May 18; 31(5):986-91. PubMed ID: 15124262
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  • 19. Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.
    Naeem M, Muhammad D, Ahmad W.
    Br J Dermatol; 2005 Jul 18; 153(1):46-50. PubMed ID: 16029325
    [Abstract] [Full Text] [Related]

  • 20. Fabry disease: twenty-two novel mutations in the alpha-galactosidase A gene and genotype/phenotype correlations in severely and mildly affected hemizygotes and heterozygotes.
    Ashton-Prolla P, Tong B, Shabbeer J, Astrin KH, Eng CM, Desnick RJ.
    J Investig Med; 2000 Jul 18; 48(4):227-35. PubMed ID: 10916280
    [Abstract] [Full Text] [Related]

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