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Journal Abstract Search


304 related items for PubMed ID: 15125799

  • 1. Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB).
    Falchetti A, Di Stefano M, Marini F, Del Monte F, Mavilia C, Strigoli D, De Feo ML, Isaia G, Masi L, Amedei A, Cioppi F, Ghinoi V, Bongi SM, Di Fede G, Sferrazza C, Rini GB, Melchiorre D, Matucci-Cerinic M, Brandi ML.
    J Bone Miner Res; 2004 Jun; 19(6):1013-7. PubMed ID: 15125799
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  • 5. Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences.
    Hocking LJ, Lucas GJ, Daroszewska A, Cundy T, Nicholson GC, Donath J, Walsh JP, Finlayson C, Cavey JR, Ciani B, Sheppard PW, Searle MS, Layfield R, Ralston SH.
    J Bone Miner Res; 2004 Jul; 19(7):1122-7. PubMed ID: 15176995
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  • 6. Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.
    Collet C, Michou L, Audran M, Chasseigneaux S, Hilliquin P, Bardin T, Lemaire I, Cornélis F, Launay JM, Orcel P, Laplanche JL.
    J Bone Miner Res; 2007 Feb; 22(2):310-7. PubMed ID: 17129171
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  • 7. Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family.
    Falchetti A, Di Stefano M, Marini F, Del Monte F, Gozzini A, Masi L, Tanini A, Amedei A, Carossino A, Isaia G, Brandi ML.
    Arthritis Res Ther; 2005 Feb; 7(6):R1289-95. PubMed ID: 16277682
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  • 8. Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone.
    Morissette J, Laurin N, Brown JP.
    J Bone Miner Res; 2006 Dec; 21 Suppl 2():P38-44. PubMed ID: 17229007
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  • 12. Novel SQSTM1 mutations in patients with Paget's disease of bone in an unrelated multiethnic American population.
    Michou L, Morissette J, Gagnon ER, Marquis A, Dellabadia M, Brown JP, Siris ES.
    Bone; 2011 Mar 01; 48(3):456-60. PubMed ID: 21073987
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  • 13. Sequestosome 1 (SQSTM1) mutations in Paget's disease of bone from the United States.
    Rhodes EC, Johnson-Pais TL, Singer FR, Ankerst DP, Bruder JM, Wisdom J, Hoon DS, Lin E, Bone HG, Simcic KJ, Leach RJ.
    Calcif Tissue Int; 2008 Apr 01; 82(4):271-7. PubMed ID: 18379713
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  • 14. Loss of ubiquitin-binding associated with Paget's disease of bone p62 (SQSTM1) mutations.
    Cavey JR, Ralston SH, Hocking LJ, Sheppard PW, Ciani B, Searle MS, Layfield R.
    J Bone Miner Res; 2005 Apr 01; 20(4):619-24. PubMed ID: 15765181
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  • 15. SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone.
    Gennari L, Gianfrancesco F, Di Stefano M, Rendina D, Merlotti D, Esposito T, Gallone S, Fusco P, Rainero I, Fenoglio P, Mancini M, Martini G, Bergui S, De Filippo G, Isaia G, Strazzullo P, Nuti R, Mossetti G.
    J Bone Miner Res; 2010 Jun 01; 25(6):1375-84. PubMed ID: 20200946
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  • 16. Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations.
    Eekhoff EW, Karperien M, Houtsma D, Zwinderman AH, Dragoiescu C, Kneppers AL, Papapoulos SE.
    Arthritis Rheum; 2004 May 01; 50(5):1650-4. PubMed ID: 15146436
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  • 17. The Implications of the Sequestosome 1 Mutation P392L in Patients with Paget's Disease in a United States Cohort.
    Seton M, Hansen M, Solomon DH.
    Calcif Tissue Int; 2016 May 01; 98(5):489-96. PubMed ID: 26713335
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  • 18. Somatic mutations in SQSTM1 detected in affected tissues from patients with sporadic Paget's disease of bone.
    Merchant A, Smielewska M, Patel N, Akunowicz JD, Saria EA, Delaney JD, Leach RJ, Seton M, Hansen MF.
    J Bone Miner Res; 2009 Mar 01; 24(3):484-94. PubMed ID: 19016598
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  • 20. Absence of somatic SQSTM1 mutations in Paget's disease of bone.
    Matthews BG, Naot D, Bava U, Callon KE, Pitto RP, McCowan SA, Wattie D, Cundy T, Cornish J, Reid IR.
    J Clin Endocrinol Metab; 2009 Feb 01; 94(2):691-4. PubMed ID: 18984666
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