메뉴 건너뛰기




Volumn 22, Issue 3, 1998, Pages 249-251

Electron microscopical study in multiple epiphyseal dysplasia type II

Author keywords

Chondrocytes; Chondrodysplasia; Collagen IX; Electron microscopy; Multiple epiphyseal dysplasia

Indexed keywords

COLLAGEN FIBRIL; PROTEOGLYCAN;

EID: 0031663577     PISSN: 01913123     EISSN: None     Source Type: Journal    
DOI: 10.3109/01913129809033476     Document Type: Article
Times cited : (7)

References (13)
  • 2
    • 0029070079 scopus 로고
    • Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene
    • Briggs MD, Hoffman SMG, King LM, et al. Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene. Nat Genet. 1995;10:330-336.
    • (1995) Nat Genet. , vol.10 , pp. 330-336
    • Briggs, M.D.1    Hoffman, S.M.G.2    King, L.M.3
  • 3
    • 0028136738 scopus 로고
    • Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene
    • Briggs MD, Choi H, Warman ML, et al. Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene. Am J Hum Genet. 1994;55:678-684.
    • (1994) Am J Hum Genet. , vol.55 , pp. 678-684
    • Briggs, M.D.1    Choi, H.2    Warman, M.L.3
  • 5
    • 0016713473 scopus 로고
    • Ultrastructural abnormalities of the chondrocytes of the growth cartilage of a type of poly-epiphyseal dysplasia with a probable autosomal recessive transmission
    • Stanescu R. Ultrastructural abnormalities of the chondrocytes of the growth cartilage of a type of poly-epiphyseal dysplasia with a probable autosomal recessive transmission. Biomedicine. 1975;23:144-148.
    • (1975) Biomedicine , vol.23 , pp. 144-148
    • Stanescu, R.1
  • 6
    • 0027475225 scopus 로고
    • Multiple epiphyseal dysplasia, Fairbank type: Morphologic and biochemical study of cartilage
    • Stanescu R, Stanescu V, Muriel MP, Maroteaux P. Multiple epiphyseal dysplasia, Fairbank type: morphologic and biochemical study of cartilage. Am J Med Genet. 1993;45:501-507.
    • (1993) Am J Med Genet. , vol.45 , pp. 501-507
    • Stanescu, R.1    Stanescu, V.2    Muriel, M.P.3    Maroteaux, P.4
  • 7
    • 0030069658 scopus 로고    scopus 로고
    • A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL IXA2, causes multiple epiphyseal dysplasia (EDM2)
    • Muragaki Y, Mariman ECM, van Beersum SEC, et al. A mutation in the gene encoding the α2 chain of the fibril-associated collagen IX, COL IXA2, causes multiple epiphyseal dysplasia (EDM2). Nat Genet. 1996;12:103-105.
    • (1996) Nat Genet. , vol.12 , pp. 103-105
    • Muragaki, Y.1    Mariman, E.C.M.2    Van Beersum, S.E.C.3
  • 8
    • 0015253220 scopus 로고
    • A unique rough surfaced endoplasmic reticulum inclusion in pseudoachondroplasia
    • Maynard JA, Cooper RR, Ponseti IV. A unique rough surfaced endoplasmic reticulum inclusion in pseudoachondroplasia. Lab Invest. 1972;26:40-44.
    • (1972) Lab Invest. , vol.26 , pp. 40-44
    • Maynard, J.A.1    Cooper, R.R.2    Ponseti, I.V.3
  • 9
    • 0020027554 scopus 로고
    • The biochemical defect of pseudoachondroplasia
    • Stanescu V, Maroteaux P, Stanescu R. The biochemical defect of pseudoachondroplasia. Eur J Pediatr. 1982;138:221-225.
    • (1982) Eur J Pediatr. , vol.138 , pp. 221-225
    • Stanescu, V.1    Maroteaux, P.2    Stanescu, R.3
  • 10
    • 0027762501 scopus 로고
    • Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19
    • Briggs MD, Rasmussen IM, Weber JL, et al. Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19. Genomics. 1993;18:656-660.
    • (1993) Genomics , vol.18 , pp. 656-660
    • Briggs, M.D.1    Rasmussen, I.M.2    Weber, J.L.3
  • 11
    • 0027770699 scopus 로고
    • Linkage of typical pseudoachondroplasia to chromosome 19
    • Hecht JT, Francomano CA, Briggs MD, et al. Linkage of typical pseudoachondroplasia to chromosome 19. Genomics. 1993;18:661-666.
    • (1993) Genomics , vol.18 , pp. 661-666
    • Hecht, J.T.1    Francomano, C.A.2    Briggs, M.D.3
  • 12
    • 0029773355 scopus 로고    scopus 로고
    • Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia
    • Cohn DH, Briggs MD, King LM, et al. Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia. Ann NY Acad Sci. 1996;785:188-194.
    • (1996) Ann NY Acad Sci. , vol.785 , pp. 188-194
    • Cohn, D.H.1    Briggs, M.D.2    King, L.M.3
  • 13
    • 0026342205 scopus 로고
    • The collagens of articular cartilage
    • Eyre DR. The collagens of articular cartilage. Semin Arthritis Rheum. 1991;21:2-11.
    • (1991) Semin Arthritis Rheum. , vol.21 , pp. 2-11
    • Eyre, D.R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.