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Journal Abstract Search

130 related items for PubMed ID: 11771666

  • 1. Expansile skeletal hyperphosphatasia is caused by a 15-base pair tandem duplication in TNFRSF11A encoding RANK and is allelic to familial expansile osteolysis.
    Whyte MP, Hughes AE.
    J Bone Miner Res; 2002 Jan; 17(1):26-9. PubMed ID: 11771666
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  • 4. Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.
    Hughes AE, Ralston SH, Marken J, Bell C, MacPherson H, Wallace RG, van Hul W, Whyte MP, Nakatsuka K, Hovy L, Anderson DM.
    Nat Genet; 2000 Jan; 24(1):45-8. PubMed ID: 10615125
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  • 5. Phenotypic characterization of early onset Paget's disease of bone caused by a 27-bp duplication in the TNFRSF11A gene.
    Nakatsuka K, Nishizawa Y, Ralston SH.
    J Bone Miner Res; 2003 Aug; 18(8):1381-5. PubMed ID: 12929927
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  • 8. Early identification of a 12-bp tandem duplication in TNFRSF11A encoding receptor activator of nuclear factor-kappa B (RANK): Clinical characterization and response to bisphosphonate therapy.
    Craven M, Vajravelu ME, Shekdar KV, Levine MA, Mumm S, Whyte MP, Mancilla EE.
    Bone; 2023 May; 170():116698. PubMed ID: 36740137
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  • 10. Expansile skeletal hyperphosphatasia: a new familial metabolic bone disease.
    Whyte MP, Mills BG, Reinus WR, Podgornik MN, Roodman GD, Gannon FH, Eddy MC, McAlister WH.
    J Bone Miner Res; 2000 Dec; 15(12):2330-44. PubMed ID: 11127198
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  • 12. Sporadic hyperphosphatasia syndrome featuring periostitis and accelerated skeletal turnover without receptor activator of nuclear factor-kappaB, osteoprotegerin, or sequestosome-1 gene defects.
    Simsek S, Basoski NM, Bravenboer N, Zhang X, Mumm S, Whyte MP, Netelenbos JC.
    J Clin Endocrinol Metab; 2007 May; 92(5):1897-901. PubMed ID: 17284635
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  • 13. Mechanisms of disease: genetics of Paget's disease of bone and related disorders.
    Daroszewska A, Ralston SH.
    Nat Clin Pract Rheumatol; 2006 May; 2(5):270-7. PubMed ID: 16932700
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  • 15. Familial expansile osteolysis in a large Spanish kindred resulting from an insertion mutation in the TNFRSF11A gene.
    Palenzuela L, Vives-Bauza C, Fernández-Cadenas I, Meseguer A, Font N, Sarret E, Schwartz S, Andreu AL.
    J Med Genet; 2002 Oct; 39(10):E67. PubMed ID: 12362049
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  • 17. Mutation screening of the TNFRSF11A gene encoding receptor activator of NF kappa B (RANK) in familial and sporadic Paget's disease of bone and osteosarcoma.
    Sparks AB, Peterson SN, Bell C, Loftus BJ, Hocking L, Cahill DP, Frassica FJ, Streeten EA, Levine MA, Fraser CM, Adams MD, Broder S, Venter JC, Kinzler KW, Vogelstein B, Ralston SH.
    Calcif Tissue Int; 2001 Mar; 68(3):151-5. PubMed ID: 11351498
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  • 18. 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
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  • 20. Genetics of Paget's disease of bone.
    Daroszewska A, Ralston SH.
    Clin Sci (Lond); 2005 Sep; 109(3):257-63. PubMed ID: 16104845
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