BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

410 related articles for article (PubMed ID: 7670472)

  • 1. 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; 10(3):330-6. PubMed ID: 7670472
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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; 51(4):219-24. PubMed ID: 9184241
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.
    Deere M; Sanford T; Francomano CA; Daniels K; Hecht JT
    Am J Med Genet; 1999 Aug; 85(5):486-90. PubMed ID: 10405447
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 104(2):135-9. PubMed ID: 11746044
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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; 80(5):510-3. PubMed ID: 9880218
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) gene.
    Délot E; King LM; Briggs MD; Wilcox WR; Cohn DH
    Hum Mol Genet; 1999 Jan; 8(1):123-8. PubMed ID: 9887340
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African family.
    Ballo R; Briggs MD; Cohn DH; Knowlton RG; Beighton PH; Ramesar RS
    Am J Med Genet; 1997 Feb; 68(4):396-400. PubMed ID: 9021009
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 17(8-9):625-33. PubMed ID: 9923655
    [TBL] [Abstract][Full Text] [Related]  

  • 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; 103(6):633-8. PubMed ID: 9921895
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.
    Unger S; Hecht JT
    Am J Med Genet; 2001; 106(4):244-50. PubMed ID: 11891674
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 276(9):6083-92. PubMed ID: 11084047
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.
    Chapman KL; Mortier GR; Chapman K; Loughlin J; Grant ME; Briggs MD
    Nat Genet; 2001 Aug; 28(4):393-6. PubMed ID: 11479597
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel mutation of the COMP gene in a Thai family with pseudoachondroplasia.
    Shotelersuk V; Punyashthiti R
    Int J Mol Med; 2002 Jan; 9(1):81-4. PubMed ID: 11745002
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia.
    Loughlin J; Irven C; Mustafa Z; Briggs MD; Carr A; Lynch SA; Knowlton RG; Cohn DH; Sykes B
    Hum Mutat; 1998; Suppl 1():S10-7. PubMed ID: 9452026
    [No Abstract]   [Full Text] [Related]  

  • 18. 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; 48(5):222-225. PubMed ID: 12768438
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.
    Briggs MD; Chapman KL
    Hum Mutat; 2002 May; 19(5):465-78. PubMed ID: 11968079
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita.
    Unger S; Korkko J; Krakow D; Lachman RS; Rimoin DL; Cohn DH
    Am J Med Genet; 2001 Nov; 104(2):140-6. PubMed ID: 11746045
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 21.