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Volumn 48, Issue 4, 1998, Pages 343-347

Molecular patology of chondrodysplasias;Patologia molecular de las osteocondrodisplasias

Author keywords

[No Author keywords available]

Indexed keywords

CHEMICAL REACTION; CHONDRODYSPLASIA; DISEASE CLASSIFICATION; EVOLUTION; HISTOPATHOLOGY; HUMAN; REVIEW; ARTICLE; BIOCHEMISTRY; CLASSIFICATION; GENETICS; MOLECULAR BIOLOGY; PATHOLOGY;

EID: 7144259766     PISSN: 03024342     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review
Times cited : (2)

References (24)
  • 2
    • 0024221225 scopus 로고
    • Bone dysplasia «families»
    • Spranger J. Bone dysplasia «families». Pathol Immunopathol 1988; 7:76-80.
    • (1988) Pathol Immunopathol , vol.7 , pp. 76-80
    • Spranger, J.1
  • 3
    • 0026566777 scopus 로고
    • International classification of osteochondrodysplasias
    • International Working Group on Constitutional Diseases of Bone, Spranger J. International classification of osteochondrodysplasias. Eur J Pediatr 1992; 151:407-415.
    • (1992) Eur J Pediatr , vol.151 , pp. 407-415
    • Spranger, J.1
  • 4
    • 0030567418 scopus 로고    scopus 로고
    • Evolution of the Bone Dysplasia Family
    • Horton WA. Evolution of the Bone Dysplasia Family. Am J Med Genet 1996; 63:4-6.
    • (1996) Am J Med Genet , vol.63 , pp. 4-6
    • Horton, W.A.1
  • 5
    • 0030627170 scopus 로고    scopus 로고
    • Récepteurs des facteurs de croissance fibroblastique et anomalies héréditaires de la croissance osseuse
    • Bonaventure J, Rousseau F, Legeai-Mallet L y cols. Récepteurs des facteurs de croissance fibroblastique et anomalies héréditaires de la croissance osseuse. Arch Pediatr 1997; 4S: 112s-117s.
    • (1997) Arch Pediatr , vol.4 S
    • Bonaventure, J.1    Rousseau, F.2    Legeai-Mallet, L.3
  • 6
    • 0027964261 scopus 로고
    • Mutations in the transmembrane domaine of FGFR-3 cause the most common genetic form of dwarfism, achondroplasia
    • Shiang R, Thompson LM, Zhu Y-Z y cols. Mutations in the transmembrane domaine of FGFR-3 cause the most common genetic form of dwarfism, achondroplasia. Cell 1994; 78:335-342.
    • (1994) Cell , vol.78 , pp. 335-342
    • Shiang, R.1    Thompson, L.M.2    Zhu, Y.-Z.3
  • 7
    • 0029298121 scopus 로고
    • Stop codon FGFR-3 mutations in thanatophoric dysplasia type I
    • Rousseau F, Saugier P, Le Merrer M, y cols. Stop codon FGFR-3 mutations in thanatophoric dysplasia type I. Nat Genet 1995; 10:11-12.
    • (1995) Nat Genet , vol.10 , pp. 11-12
    • Rousseau, F.1    Saugier, P.2    Le Merrer, M.3
  • 8
    • 0029032394 scopus 로고
    • A recurrent mutation in the tyrosin kynase domain of fibroblast of growth factor 3 causes hypochondroplasia
    • Bellus GA, McIntosh I, Smith EA, y cols. A recurrent mutation in the tyrosin kynase domain of fibroblast of growth factor 3 causes hypochondroplasia. Nat Genet 1995; 10:357-359.
    • (1995) Nat Genet , vol.10 , pp. 357-359
    • Bellus, G.A.1    McIntosh, I.2    Smith, E.A.3
  • 9
    • 0030803194 scopus 로고    scopus 로고
    • Recent advances in molecular analysis of skeletal dysplasia
    • Ozono K. Recent advances in molecular analysis of skeletal dysplasia. Acta Paediatr Jpn 1997; 39:491-498.
    • (1997) Acta Paediatr Jpn , vol.39 , pp. 491-498
    • Ozono, K.1
  • 10
    • 0029932410 scopus 로고    scopus 로고
    • Molecular Defects in the Chondrodysplasias
    • Rimoin DL. Molecular Defects in the Chondrodysplasias. Am J Med Genet 1996; 63:106-110.
    • (1996) Am J Med Genet , vol.63 , pp. 106-110
    • Rimoin, D.L.1
  • 11
    • 0000838834 scopus 로고
    • Disorders of collagen biosynthesis and structure
    • Scriver CR, Beaudet AL, Sly WS, Valle D (eds). New York: McGraw-Hill, Chap. 134
    • Byers PH. Disorders of collagen biosynthesis and structure. En: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease, 7th ed. New York: McGraw-Hill, 1995; Vol III, Chap. 134; pp. 4029-4077.
    • (1995) The Metabolic and Molecular Bases of Inherited Disease, 7th Ed. , vol.3 , pp. 4029-4077
    • Byers, P.H.1
  • 12
    • 0030741097 scopus 로고    scopus 로고
    • Osteogenesis imperfecta. Phenotypes resulting from Serine for Glycine Substitutions in the alpha-2 (I) Collagen Chain
    • Nuytinck L, Wettinck K, Freund M y cols. Osteogenesis imperfecta. Phenotypes resulting from Serine for Glycine Substitutions in the alpha-2 (I) Collagen Chain. Eur J Hum Genet 1997; 5:165-167.
    • (1997) Eur J Hum Genet , vol.5 , pp. 165-167
    • Nuytinck, L.1    Wettinck, K.2    Freund, M.3
  • 13
    • 0028157152 scopus 로고
    • The type II collagenopathies: A spectrum of chondrodysplasias
    • Spranger J, Winterpacht A, Zabel B. The type II collagenopathies: A spectrum of chondrodysplasias. Eur J Pediatr 1994; 153:56-65.
    • (1994) Eur J Pediatr , vol.153 , pp. 56-65
    • Spranger, J.1    Winterpacht, A.2    Zabel, B.3
  • 14
    • 0029035708 scopus 로고
    • Mutations in exon 17B of cargilage oligomeric matrix protein (COMP) cause pseudoachondroplasia
    • Hecht JT, Nelson L, Crowder E y cols. Mutations in exon 17B of cargilage oligomeric matrix protein (COMP) cause pseudoachondroplasia. Nat Genet 1995; 10:325-329.
    • (1995) Nat Genet , vol.10 , pp. 325-329
    • Hecht, J.T.1    Nelson, L.2    Crowder, E.3
  • 15
    • 0028212788 scopus 로고
    • Type II Collagen mutations in rare and common cartilage diseases
    • Vikkula M, Metsaranta M, Ala-Kokko L. Type II Collagen mutations in rare and common cartilage diseases. Ann Med 1994; 26:107-114.
    • (1994) Ann Med , vol.26 , pp. 107-114
    • Vikkula, M.1    Metsaranta, M.2    Ala-Kokko, L.3
  • 16
    • 0030004920 scopus 로고    scopus 로고
    • Progress in Medical Genetics: Map-Based Gene Discovery and the Molecular Pathology of Skeletal Dysplasias
    • McKusick VA, Amberger JS, Francomano CA. Progress in Medical Genetics: Map-Based Gene Discovery and the Molecular Pathology of Skeletal Dysplasias. Am J Med Genet 1996; 63:98-105.
    • (1996) Am J Med Genet , vol.63 , pp. 98-105
    • McKusick, V.A.1    Amberger, J.S.2    Francomano, C.A.3
  • 17
    • 0028943780 scopus 로고
    • A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia
    • Schipani E, Kruse K, Jüppner H. A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 1995; 268:98-100.
    • (1995) Science , vol.268 , pp. 98-100
    • Schipani, E.1    Kruse, K.2    Jüppner, H.3
  • 18
    • 0027978110 scopus 로고
    • The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping
    • Hästbacka J, de la Chapelle A, Mahtani MM y cols. The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping. Cell 1994; 78:1073-1087.
    • (1994) Cell , vol.78 , pp. 1073-1087
    • Hästbacka, J.1    De La Chapelle, A.2    Mahtani, M.M.3
  • 19
    • 0030048174 scopus 로고    scopus 로고
    • Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulphate transporter gene (DTDST): Evidence for a phenotypic series involving three Chondrodysplasias
    • Hästbacka J, Superti-Furg A, Wilcox WR y cols. Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulphate transporter gene (DTDST): Evidence for a phenotypic series involving three Chondrodysplasias. Am J Hum Genet 1996; 58:255-262.
    • (1996) Am J Hum Genet , vol.58 , pp. 255-262
    • Hästbacka, J.1    Superti-Furg, A.2    Wilcox, W.R.3
  • 20
    • 0028924667 scopus 로고
    • A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (Cdpx) and implications for warfarin embryopathy
    • Franco B, Meroni G, Parenti G y cols. A cluster of sulfatase genes on Xp22.3: Mutations in chondrodysplasia punctata (Cdpx) and implications for warfarin embryopathy. Cell 1995; 81:15-25.
    • (1995) Cell , vol.81 , pp. 15-25
    • Franco, B.1    Meroni, G.2    Parenti, G.3
  • 21
    • 0028961999 scopus 로고
    • Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen
    • McIntosh I, Abbott MH, Francomano CA. Concentration of mutations causing Schmid metaphyseal chondrodysplasia in the C-terminal noncollagenous domain of type X collagen. Hum Mutat 1995; 5:121-125.
    • (1995) Hum Mutat , vol.5 , pp. 121-125
    • McIntosh, I.1    Abbott, M.H.2    Francomano, C.A.3
  • 22
    • 0028135336 scopus 로고
    • Campomyelic dysplasia and autosomal sex reversal caused by mutations in and SRY-related gene
    • Foster JW, Domínguez-Steglich MA, Gioli S y cols. Campomyelic dysplasia and autosomal sex reversal caused by mutations in and SRY-related gene. Nature 1994; 372:529-530.
    • (1994) Nature , vol.372 , pp. 529-530
    • Foster, J.W.1    Domínguez-Steglich, M.A.2    Gioli, S.3
  • 23
    • 0030455679 scopus 로고    scopus 로고
    • Skeletal dysplasias detectable by DNA analysis
    • Reardon W. Skeletal dysplasias detectable by DNA analysis. Prenat Diag 1996; 16:1221-1236.
    • (1996) Prenat Diag , vol.16 , pp. 1221-1236
    • Reardon, W.1
  • 24
    • 0008609994 scopus 로고    scopus 로고
    • Molecular Genetics of Human Chondrodysplasias
    • Horton WA. Molecular Genetics of Human Chondrodysplasias. Growth Gen Horm 1997; 13:49-55.
    • (1997) Growth Gen Horm , vol.13 , pp. 49-55
    • Horton, W.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.