메뉴 건너뛰기




Volumn 90, Issue 5, 2006, Pages 658-659

Congenital iris ectropion as an indicator of variant aniridia [12]

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; TRANSCRIPTION FACTOR PAX6;

EID: 33646237384     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.2005.089698     Document Type: Letter
Times cited : (14)

References (9)
  • 1
    • 0026483168 scopus 로고
    • Criteria to detect minimal expressivity within families with autosomal dominant aniridia
    • Mintz-Hittner HA, Ferrell RE, Lyons LA, et al. Criteria to detect minimal expressivity within families with autosomal dominant aniridia. Am J Ophthalmol 1992;114:700-7.
    • (1992) Am J Ophthalmol , vol.114 , pp. 700-707
    • Mintz-Hittner, H.A.1    Ferrell, R.E.2    Lyons, L.A.3
  • 2
    • 0033943851 scopus 로고    scopus 로고
    • A novel PAX6 gene mutation (Pl 18R) in a family with congenital nystagmus associated with a variant form of aniridia
    • Sonoda S, Isashiki Y, Tabata Y, et al. A novel PAX6 gene mutation (Pl 18R) in a family with congenital nystagmus associated with a variant form of aniridia. Graefes Arch Clin Exp Ophthalmol 2000;238:552-8.
    • (2000) Graefes Arch Clin Exp Ophthalmol , vol.238 , pp. 552-558
    • Sonoda, S.1    Isashiki, Y.2    Tabata, Y.3
  • 3
    • 2442586501 scopus 로고    scopus 로고
    • Phenotypic variations in patients with a 1030 A>T point mutation in the PAX6 gene
    • De Becker I, Walter M, Noel LP. Phenotypic variations in patients with a 1030 A>T point mutation in the PAX6 gene. Can J Ophthalmol 2004;39:272-8.
    • (2004) Can J Ophthalmol , vol.39 , pp. 272-278
    • De Becker, I.1    Walter, M.2    Noel, L.P.3
  • 5
    • 0022609038 scopus 로고
    • Coexistence of Prader-Willi syndrome, congenital ectropion uveae with glaucoma, and factor XI deficiency
    • Futterweit W, Ritch R, Teekhasaenee C, et al. Coexistence of Prader-Willi syndrome, congenital ectropion uveae with glaucoma, and factor XI deficiency. JAMA 1986;255:3280-2.
    • (1986) JAMA , vol.255 , pp. 3280-3282
    • Futterweit, W.1    Ritch, R.2    Teekhasaenee, C.3
  • 6
    • 11244250692 scopus 로고    scopus 로고
    • Presence of the R1748X mutation in the NF1 gene in a Brazilian patient with ectropion uveae
    • Trovo-Marqui AB, Goloni-Bertollo EM, Teixeira MF, et al. Presence of the R1748X mutation in the NF1 gene in a Brazilian patient with ectropion uveae. Ophthalmic Res 2004;36:349-52.
    • (2004) Ophthalmic Res , vol.36 , pp. 349-352
    • Trovo-Marqui, A.B.1    Goloni-Bertollo, E.M.2    Teixeira, M.F.3
  • 7
    • 0031969487 scopus 로고    scopus 로고
    • Missense mutation at the C terminus of the PAX6 gene in ocular anterior segment anomalies
    • Azuma N, Yamada M. Missense mutation at the C terminus of the PAX6 gene in ocular anterior segment anomalies. Invest Ophthalmol Vis Sci 1998;39:828-30.
    • (1998) Invest Ophthalmol Vis Sci , vol.39 , pp. 828-830
    • Azuma, N.1    Yamada, M.2
  • 8
    • 0029097307 scopus 로고
    • Mutation of the PAX6 gene in patients with autosomal dominant keratitis
    • Mirzayans F, Pearce WG, MacDonald IM, et al. Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Am J Hum Genet 1995;57:539-48.
    • (1995) Am J Hum Genet , vol.57 , pp. 539-548
    • Mirzayans, F.1    Pearce, W.G.2    MacDonald, I.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.