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194 related items for PubMed ID: 17579668

  • 1. Serum or plasma cartilage oligomeric matrix protein concentration as a diagnostic marker in pseudoachondroplasia: differential diagnosis of a family.
    Tufan AC, Satiroglu-Tufan NL, Jackson GC, Semerci CN, Solak S, Yagci B.
    Eur J Hum Genet; 2007 Oct; 15(10):1023-8. PubMed ID: 17579668
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  • 3. Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia.
    Nakayama H, Endo Y, Aota S, Sato M, Fujita T, Kikuchi S.
    Oncol Rep; 2003 Oct; 10(4):871-3. PubMed ID: 12792737
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  • 4. Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia.
    Hecht JT, Nelson LD, Crowder E, Wang Y, Elder FF, Harrison WR, Francomano CA, Prange CK, Lennon GG, Deere M.
    Nat Genet; 1995 Jul; 10(3):325-9. PubMed ID: 7670471
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  • 5. Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.
    Unger S, Hecht JT.
    Am J Med Genet; 2001 Jul; 106(4):244-50. PubMed ID: 11891674
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  • 6. Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations.
    Mabuchi A, Momohara S, Ohashi H, Takatori Y, Haga N, Nishimura G, Ikegawa S.
    Am J Med Genet A; 2004 Aug 15; 129A(1):35-8. PubMed ID: 15266613
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  • 7. COMP mutations: domain-dependent relationship between abnormal chondrocyte trafficking and clinical PSACH and MED phenotypes.
    Chen TL, Posey KL, Hecht JT, Vertel BM.
    J Cell Biochem; 2008 Feb 15; 103(3):778-87. PubMed ID: 17570134
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  • 8. Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.
    Mabuchi A, Manabe N, Haga N, Kitoh H, Ikeda T, Kawaji H, Tamai K, Hamada J, Nakamura S, Brunetti-Pierri N, Kimizuka M, Takatori Y, Nakamura K, Nishimura G, Ohashi H, Ikegawa S.
    Hum Genet; 2003 Jan 15; 112(1):84-90. PubMed ID: 12483304
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  • 9. Role of TSP-5/COMP in pseudoachondroplasia.
    Posey KL, Hayes E, Haynes R, Hecht JT.
    Int J Biochem Cell Biol; 2004 Jun 15; 36(6):1005-12. PubMed ID: 15094116
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  • 10. MED and PSACH COMP mutations affect chondrogenesis in chicken limb bud micromass cultures.
    Roman-Blas J, Dion AS, Seghatoleslami MR, Giunta K, Oca P, Jimenez SA, Williams CJ.
    J Cell Physiol; 2010 Sep 15; 224(3):817-26. PubMed ID: 20578249
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  • 11. Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.
    Briggs MD, Mortier GR, Cole WG, King LM, Golik SS, Bonaventure J, Nuytinck L, De Paepe A, Leroy JG, Biesecker L, Lipson M, Wilcox WR, Lachman RS, Rimoin DL, Knowlton RG, Cohn DH.
    Am J Hum Genet; 1998 Feb 15; 62(2):311-9. PubMed ID: 9463320
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  • 12. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
    Briggs MD, Chapman KL.
    Hum Mutat; 2002 May 15; 19(5):465-78. PubMed ID: 11968079
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  • 13. Mosaicism in pseudoachondroplasia.
    Ferguson HL, Deere M, Evans R, Rotta J, Hall JG, Hecht JT.
    Am J Med Genet; 1997 Jun 13; 70(3):287-91. PubMed ID: 9188668
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  • 14. Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia.
    Deere M, Sanford T, Ferguson HL, Daniels K, Hecht JT.
    Am J Med Genet; 1998 Dec 28; 80(5):510-3. PubMed ID: 9880218
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  • 18. Cell-type specific trafficking of expressed mutant COMP in a cell culture model for PSACH.
    Chen TL, Stevens JW, Cole WG, Hecht JT, Vertel BM.
    Matrix Biol; 2004 Nov 28; 23(7):433-44. PubMed ID: 15579310
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  • 19. Clinical significance of decreased serum concentration of cartilage oligomeric matrix protein in systemic juvenile idiopathic arthritis.
    Urakami T, Manki A, Inoue T, Oda M, Tanaka H, Morishima T.
    J Rheumatol; 2006 May 28; 33(5):996-1000. PubMed ID: 16652429
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  • 20. A novel mutation of the COMP gene in a Thai family with pseudoachondroplasia.
    Shotelersuk V, Punyashthiti R.
    Int J Mol Med; 2002 Jan 28; 9(1):81-4. PubMed ID: 11745002
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