BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

149 related articles for article (PubMed ID: 16691584)

  • 21. 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; 146A(13):1682-6. PubMed ID: 18546327
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A recurrent R718W mutation in COMP results in multiple epiphyseal dysplasia with mild myopathy: clinical and pathogenetic overlap with collagen IX mutations.
    Jakkula E; Lohiniva J; Capone A; Bonafe L; Marti M; Schuster V; Giedion A; Eich G; Boltshauser E; Ala-Kokko L; Superti-Furga A
    J Med Genet; 2003 Dec; 40(12):942-8. PubMed ID: 14684695
    [No Abstract]   [Full Text] [Related]  

  • 23. 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]  

  • 24. Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia.
    Zankl A; Jackson GC; Crettol LM; Taylor J; Elles R; Mortier GR; Spranger J; Zabel B; Unger S; Merrer ML; Cormier-Daire V; Hall CM; Wright MJ; Bonafe L; Superti-Furga A; Briggs MD
    Eur J Hum Genet; 2007 Feb; 15(2):150-4. PubMed ID: 17133256
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis.
    Unger S; Bonafé L; Superti-Furga A
    Best Pract Res Clin Rheumatol; 2008 Mar; 22(1):19-32. PubMed ID: 18328978
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Novel mutations in exon 2 of MATN3 affect residues within the alpha-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3.
    Fresquet M; Jackson GC; Loughlin J; Briggs MD
    Hum Mutat; 2008 Feb; 29(2):330. PubMed ID: 18205203
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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; 129A(1):35-8. PubMed ID: 15266613
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Comparative proteomic analysis of normal and collagen IX null mouse cartilage reveals altered extracellular matrix composition and novel components of the collagen IX interactome.
    Brachvogel B; Zaucke F; Dave K; Norris EL; Stermann J; Dayakli M; Koch M; Gorman JJ; Bateman JF; Wilson R
    J Biol Chem; 2013 May; 288(19):13481-92. PubMed ID: 23530037
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.
    Cotterill SL; Jackson GC; Leighton MP; Wagener R; Mäkitie O; Cole WG; Briggs MD
    Hum Mutat; 2005 Dec; 26(6):557-65. PubMed ID: 16287128
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study.
    Seo SG; Song HR; Kim HW; Yoo WJ; Shim JS; Chung CY; Park MS; Oh CW; Jeong C; Song KS; Kim OH; Park SS; Choi IH; Cho TJ
    BMC Musculoskelet Disord; 2014 Mar; 15():84. PubMed ID: 24629099
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.
    Holden P; Canty EG; Mortier GR; Zabel B; Spranger J; Carr A; Grant ME; Loughlin JA; Briggs MD
    Am J Hum Genet; 1999 Jul; 65(1):31-8. PubMed ID: 10364514
    [TBL] [Abstract][Full Text] [Related]  

  • 33. [A novel mutation of cartilage oligomeric matrix protein gene underlies multiple epiphyseal dysplasia].
    Wang H; Xie J; Wu W; Xu Z; Luo F; Geng Q
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Jun; 30(3):322-5. PubMed ID: 23744324
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia.
    Nakashima E; Kitoh H; Maeda K; Haga N; Kosaki R; Mabuchi A; Nishimura G; Ohashi H; Ikegawa S
    Am J Med Genet A; 2005 Jan; 132A(2):181-4. PubMed ID: 15551337
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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]  

  • 36. 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]  

  • 37. 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]  

  • 38. 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]  

  • 39. COMP mutations, chondrocyte function and cartilage matrix.
    Hecht JT; Hayes E; Haynes R; Cole WG
    Matrix Biol; 2005 Jan; 23(8):525-33. PubMed ID: 15694129
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia.
    Chapman KL; Briggs MD; Mortier GR
    Pediatr Pathol Mol Med; 2003; 22(1):53-75. PubMed ID: 12687890
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.