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Journal Abstract Search

298 related items for PubMed ID: 11746045

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  • 2. 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; 62(2):311-9. PubMed ID: 9463320
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  • 3. 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; 112(1):84-90. PubMed ID: 12483304
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  • 6. 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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  • 7. Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.
    Briggs MD, Hoffman SM, King LM, Olsen AS, Mohrenweiser H, Leroy JG, Mortier GR, Rimoin DL, Lachman RS, Gaines ES.
    Nat Genet; 1995 Jul 28; 10(3):330-6. PubMed ID: 7670472
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  • 8. Multiple epiphyseal dysplasia and pseudoachondroplasia due to novel mutations in the calmodulin-like repeats of cartilage oligomeric matrix protein.
    Susic S, McGrory J, Ahier J, Cole WG.
    Clin Genet; 1997 Apr 28; 51(4):219-24. PubMed ID: 9184241
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  • 9. Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia.
    Mabuchi A, Haga N, Ikeda T, Manabe N, Ohashi H, Takatori Y, Nakamura K, Ikegawa S.
    Am J Med Genet; 2001 Nov 22; 104(2):135-9. PubMed ID: 11746044
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  • 10. Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.
    Song HR, Lee KS, Li QW, Koo SK, Jung SC.
    J Hum Genet; 2003 Nov 22; 48(5):222-225. PubMed ID: 12768438
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  • 11. Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia.
    Ikegawa S, Ohashi H, Nishimura G, Kim KC, Sannohe A, Kimizuka M, Fukushima Y, Nagai T, Nakamura Y.
    Hum Genet; 1998 Dec 22; 103(6):633-8. PubMed ID: 9921895
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  • 13. Multilayered patella: similar radiographic findings in pseudoachondroplasia and recessive multiple epiphyseal dysplasia.
    Vatanavicharn N, Lachman RS, Rimoin DL.
    Am J Med Genet A; 2008 Jul 01; 146A(13):1682-6. PubMed ID: 18546327
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  • 15. Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group.
    Kennedy J, Jackson GC, Barker FS, Nundlall S, Bella J, Wright MJ, Mortier GR, Neas K, Thompson E, Elles R, Briggs MD.
    Hum Mutat; 2005 Jun 01; 25(6):593-4. PubMed ID: 15880723
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  • 16. Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX.
    Thur J, Rosenberg K, Nitsche DP, Pihlajamaa T, Ala-Kokko L, Heinegård D, Paulsson M, Maurer P.
    J Biol Chem; 2001 Mar 02; 276(9):6083-92. PubMed ID: 11084047
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  • 17. Retention of cartilage oligomeric matrix protein (COMP) and cell death in redifferentiated pseudoachondroplasia chondrocytes.
    Hecht JT, Montufar-Solis D, Decker G, Lawler J, Daniels K, Duke PJ.
    Matrix Biol; 1998 Dec 02; 17(8-9):625-33. PubMed ID: 9923655
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