메뉴 건너뛰기




Volumn 91, Issue 6, 2007, Pages 722-727

Development of a DNA chip for the diagnosis of the most common corneal dystrophies caused by mutations in the βigh3 gene

Author keywords

[No Author keywords available]

Indexed keywords

PRIMER DNA;

EID: 34249788149     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.2006.111070     Document Type: Article
Times cited : (11)

References (11)
  • 1
    • 0035139506 scopus 로고    scopus 로고
    • Survey of patients with granular, lattice, avellino, and Reis-Bucklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes
    • Afshari NA, Mullally JE, Afshari MA, et al. Survey of patients with granular, lattice, avellino, and Reis-Bucklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes. Arch Ophthalmol 2001;119:16-22.
    • (2001) Arch Ophthalmol , vol.119 , pp. 16-22
    • Afshari, N.A.1    Mullally, J.E.2    Afshari, M.A.3
  • 2
    • 0038356459 scopus 로고    scopus 로고
    • H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnmese people
    • Chau HM, Ha NT, Cung LX, et al. H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnmese people. Br J Ophthalmol 2003;87:686-9.
    • (2003) Br J Ophthalmol , vol.87 , pp. 686-689
    • Chau, H.M.1    Ha, N.T.2    Cung, L.X.3
  • 3
    • 0036205653 scopus 로고    scopus 로고
    • Clinical outcome of eight BIGH3-linked corneal dystrophies
    • Ellies P, Renard G, Valleix S, et al. Clinical outcome of eight BIGH3-linked corneal dystrophies. Ophthalmology 2002;109:793-7.
    • (2002) Ophthalmology , vol.109 , pp. 793-797
    • Ellies, P.1    Renard, G.2    Valleix, S.3
  • 4
    • 4344636068 scopus 로고    scopus 로고
    • BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI
    • El-Ashry MF, Abd El-Aziz MM, Ficker LA, et al. BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI. Eye 2004;18:723-8.
    • (2004) Eye , vol.18 , pp. 723-728
    • El-Ashry, M.F.1    Abd El-Aziz, M.M.2    Ficker, L.A.3
  • 5
    • 0033054189 scopus 로고    scopus 로고
    • Varied appearance of cornea of patients with corneal dystrophy associated with R124H mutation in the BIGH3 gene
    • Konishi M, Yamada M, Nakamura Y, et al. Varied appearance of cornea of patients with corneal dystrophy associated with R124H mutation in the BIGH3 gene. Cornea 1999;18:424-9.
    • (1999) Cornea , vol.18 , pp. 424-429
    • Konishi, M.1    Yamada, M.2    Nakamura, Y.3
  • 6
    • 1542297320 scopus 로고    scopus 로고
    • Lattice corneal dystrophy type I without typical lattice lines: Role of mutational analysis
    • Yoshida S, Yoshida A, Nakao S, et al. Lattice corneal dystrophy type I without typical lattice lines: role of mutational analysis. Am J Ophthalmol 2004;137:586-8.
    • (2004) Am J Ophthalmol , vol.137 , pp. 586-588
    • Yoshida, S.1    Yoshida, A.2    Nakao, S.3
  • 7
    • 1542723586 scopus 로고    scopus 로고
    • Microarray-based identification of bacteria in clinical samples by solid-phase PCR amplification of 23S ribosomal DNA sequences
    • Mitterer G, Huber M, Leidinger E, et al. Microarray-based identification of bacteria in clinical samples by solid-phase PCR amplification of 23S ribosomal DNA sequences. J Clin Microbiol 2004;42:1048-57.
    • (2004) J Clin Microbiol , vol.42 , pp. 1048-1057
    • Mitterer, G.1    Huber, M.2    Leidinger, E.3
  • 8
    • 7544248550 scopus 로고    scopus 로고
    • Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene
    • Aldave AF, Gutmark JG, Yellore VS, et al. Lattice corneal dystrophy associated with the Ala546Asp and Pro551Gln missense changes in the TGFBI gene. Am J Ophthalmol 2004;138:772-81.
    • (2004) Am J Ophthalmol , vol.138 , pp. 772-781
    • Aldave, A.F.1    Gutmark, J.G.2    Yellore, V.S.3
  • 9
    • 0034118666 scopus 로고    scopus 로고
    • Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene
    • Hirano K, Hotta Y, Fujiki K, et al. Corneal amyloidosis caused by Leu518Pro mutation of betaig-h3 gene. Br J Ophthalmol 2000;84:583-5.
    • (2000) Br J Ophthalmol , vol.84 , pp. 583-585
    • Hirano, K.1    Hotta, Y.2    Fujiki, K.3
  • 10
    • 0034972072 scopus 로고    scopus 로고
    • Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene
    • Hirano K, Hotta Y, Nakamura M, et al. Late-onset form of lattice corneal dystrophy caused by leu527Arg mutation of the TGFBI gene. Cornea 2001;20:525-9.
    • (2001) Cornea , vol.20 , pp. 525-529
    • Hirano, K.1    Hotta, Y.2    Nakamura, M.3
  • 11
    • 0142226907 scopus 로고    scopus 로고
    • A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I
    • Warren JF, Abbott RL, Yoon MK, et al. A new mutation (Leu569Arg) within exon 13 of the TGFBI (BIGH3) gene causes lattice corneal dystrophy type I. Am J Ophthalmol 2003;136:872-8.
    • (2003) Am J Ophthalmol , vol.136 , pp. 872-878
    • Warren, J.F.1    Abbott, R.L.2    Yoon, M.K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.