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Volumn 13, Issue 4, 2004, Pages 231-236

Infantile systemic hyalinosis: Report of three unrelated Brazilian children and review of the literature

Author keywords

Autosomal recessive; Infantile Systemic Hyalinosis; Joint contractures

Indexed keywords

IBUPROFEN; PAMIDRONIC ACID; HYALIN;

EID: 16644364355     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200410000-00006     Document Type: Review
Times cited : (11)

References (14)
  • 1
    • 0034870220 scopus 로고    scopus 로고
    • Differential gene expression during capillary morphogenesis in 3D collagen matrices: Regulated expression of genes involved in basement membrane matrix assembly, cell cycle progression, cellular differentiation and G-protein signaling
    • Bell SE, Mavilla A, Salazar R, Bayless KJ, Kanagala S, Maxwell SA, et al. (2001). Differential gene expression during capillary morphogenesis in 3D collagen matrices: regulated expression of genes involved in basement membrane matrix assembly, cell cycle progression, cellular differentiation and G-protein signaling. J Cell Sci 114:2755-2773.
    • (2001) J Cell Sci , vol.114 , pp. 2755-2773
    • Bell, S.E.1    Mavilla, A.2    Salazar, R.3    Bayless, K.J.4    Kanagala, S.5    Maxwell, S.A.6
  • 2
    • 0038575444 scopus 로고    scopus 로고
    • Functional structure and composition of the extracellular matrix
    • Bosman FT, Stamenkovic I (2003). Functional structure and composition of the extracellular matrix. J Pathol 200:423-428.
    • (2003) J Pathol , vol.200 , pp. 423-428
    • Bosman, F.T.1    Stamenkovic, I.2
  • 4
    • 0142122899 scopus 로고    scopus 로고
    • Mutations in capillary morphogenesis gene -2 result in the allelic disorder juvenile hyaline fibromatosis and infantile systemic hyalinosis
    • Dowling O, Difeo A, Ramirez MC, Tukel T, Narla G, Bonafe L, et al. (2003). Mutations in capillary morphogenesis gene -2 result in the allelic disorder juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet 73:957-966.
    • (2003) Am J Hum Genet , vol.73 , pp. 957-966
    • Dowling, O.1    Difeo, A.2    Ramirez, M.C.3    Tukel, T.4    Narla, G.5    Bonafe, L.6
  • 5
    • 0025976528 scopus 로고
    • Infantile systemic hyalinosis: Newly recognized disorder of collagen?
    • Glover MT, Lake BD, Atherton DJ (1991). Infantile systemic hyalinosis: newly recognized disorder of collagen? Pediatrics 87:228-234.
    • (1991) Pediatrics , vol.87 , pp. 228-234
    • Glover, M.T.1    Lake, B.D.2    Atherton, D.J.3
  • 6
    • 0026775226 scopus 로고
    • Clinical, histologic, and ultrastructural findings in two cases of infantile systemic hyalinosis
    • Glover MT, Lake BD, Atherton DJ (1992). Clinical, histologic, and ultrastructural findings in two cases of infantile systemic hyalinosis. Pediatric Dermatol 9:255-258.
    • (1992) Pediatric Dermatol , vol.9 , pp. 255-258
    • Glover, M.T.1    Lake, B.D.2    Atherton, D.J.3
  • 7
    • 0142091197 scopus 로고    scopus 로고
    • Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis
    • Hanks S, Adams S, Douglas J, Arbour L, Atherton DJ, Balci S, et al. (2003). Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet 73:791-800.
    • (2003) Am J Hum Genet , vol.73 , pp. 791-800
    • Hanks, S.1    Adams, S.2    Douglas, J.3    Arbour, L.4    Atherton, D.J.5    Balci, S.6
  • 8
    • 0022911314 scopus 로고
    • Infantile systemic hyalinosis: Report of four cases of disease, fatal in infancy, apparently different from juvenile systemic hyalinosis
    • Landing BH, Nadorra R (1986). Infantile systemic hyalinosis: report of four cases of disease, fatal in infancy, apparently different from juvenile systemic hyalinosis. Pediat Pathol 6:55-79.
    • (1986) Pediat Pathol , vol.6 , pp. 55-79
    • Landing, B.H.1    Nadorra, R.2
  • 13
    • 0038303163 scopus 로고    scopus 로고
    • Human capillary morphogenesis protein 2 functions as an anthrax toxin receptor
    • Scobie HM, Rainey GJ, Bradley KA, Young JA (2003). Human capillary morphogenesis protein 2 functions as an anthrax toxin receptor. Proc Natl Acad Sci USA 100:5170-5174.
    • (2003) Proc Natl Acad Sci USA , vol.100 , pp. 5170-5174
    • Scobie, H.M.1    Rainey, G.J.2    Bradley, K.A.3    Young, J.A.4
  • 14
    • 0035932774 scopus 로고    scopus 로고
    • Infantile systemic hyalinosis in siblings: Clinical report, biochemical and ultrastructural findings, and review of the literature
    • Stucki U, Spycher MA, Eich G, Rossi A, Sacher P, Steinmann B, et al. (2001). Infantile systemic hyalinosis in siblings: clinical report, biochemical and ultrastructural findings, and review of the literature. Am J Med Genet 100:122-129.
    • (2001) Am J Med Genet , vol.100 , pp. 122-129
    • Stucki, U.1    Spycher, M.A.2    Eich, G.3    Rossi, A.4    Sacher, P.5    Steinmann, B.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.