메뉴 건너뛰기
British Journal of Ophthalmology
Volumn 90, Issue 10, 2006, Pages 1324-1325
Advanced bilateral persistent fetal vasculature associated with a novel mutation in the Norrie gene [3]
Author keywords

[No Author keywords available]
Indexed keywords

AMINO ACID SUBSTITUTION; CASE REPORT; CHILD; CLINICAL EXAMINATION; CODON; EYE DISEASE; FAMILY HISTORY; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HETEROZYGOSITY; HUMAN; LETTER; MALE; MISSENSE MUTATION; NORRIE DISEASE; PERSISTENT FETAL VASCULATURE; PHENOTYPE; PRIORITY JOURNAL; VASCULARIZATION;
EID: 33750347191     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.2005.088625     Document Type: Letter
Times cited : (20)
References (8)
  • 1
    • 0018165133 scopus 로고
    • Persistent hyperplastic primary vitreous. A clinicopathologic study of 62 cases and review of the literature
    • Haddad R, Font RL, Reeser F. Persistent hyperplastic primary vitreous. A clinicopathologic study of 62 cases and review of the literature. Surv Ophthalmol 1978;23:123-4.
    • (1978) Surv Ophthalmol , vol.23 , pp. 123-124
    • Haddad, R.1    Font, R.L.2    Reeser, F.3
  • 2
    • 84989997872 scopus 로고
    • Norrie's disease: A new hereditary bilateral pseudotumour of the retina
    • Warburg M. Norrie's disease: a new hereditary bilateral pseudotumour of the retina. Acta Ophthalmol (Copenh) 1961;39:757-72.
    • (1961) Acta Ophthalmol (Copenh) , vol.39 , pp. 757-772
    • Warburg, M.1
  • 3
    • 0015095905 scopus 로고
    • Norrie's disease: An X-linked syndrome of retinal malformation, mental retardation, and deafness
    • Holmes IB. Norrie's disease: an X-linked syndrome of retinal malformation, mental retardation, and deafness. J Pediatr 1971;79:89-92.
    • (1971) J Pediatr , vol.79 , pp. 89-92
    • Holmes, I.B.1
  • 4
    • 0034166086 scopus 로고    scopus 로고
    • A novel mutation in the Norrie disease gene
    • Ott S, Patel RJ, Appukuttan B, et al. A novel mutation in the Norrie disease gene. J AAPOS 2000;4:125-6.
    • (2000) J AAPOS , vol.4 , pp. 125-126
    • Ott, S.1    Patel, R.J.2    Appukuttan, B.3
  • 5
    • 0026879015 scopus 로고
    • Isolation and characterization of a candidate gene for Norrie disease
    • Chen ZY, Hendriks RW, Jobling MA, et al. Isolation and characterization of a candidate gene for Norrie disease. Nat Genet 1992;1:204-8.
    • (1992) Nat Genet , vol.1 , pp. 204-208
    • Chen, Z.Y.1    Hendriks, R.W.2    Jobling, M.A.3
  • 6
    • 0026878927 scopus 로고
    • Isolation of a candidate gene for Norrie disease by positional cloning
    • Berger W, Meindl A, van de Pol TJR, et al. Isolation of a candidate gene for Norrie disease by positional cloning. Nat Genet 1992;1:199-203.
    • (1992) Nat Genet , vol.1 , pp. 199-203
    • Berger, W.1    Meindl, A.2    Van De Pol, T.J.R.3
  • 7
    • 0028901919 scopus 로고
    • Missense mutations in the NDP gene in patients with a less severe course of Norrie disease
    • Meindl A, Lorenz B, Achatz H, et al. Missense mutations in the NDP gene in patients with a less severe course of Norrie disease. Hum Molec Genet 1995;4:489-90.
    • (1995) Hum Molec Genet , vol.4 , pp. 489-490
    • Meindl, A.1    Lorenz, B.2    Achatz, H.3
  • 8
    • 0031768215 scopus 로고    scopus 로고
    • Intrafamilial variability of the ocular phenotype in a Polish family with a missense mutation (A63D) in the Norrie disease gene
    • Zaremba J, Feil S, Juszko J, et al. Intrafamilial variability of the ocular phenotype in a Polish family with a missense mutation (A63D) in the Norrie disease gene. Ophthalmic Genet 1998;19:157-64.
    • (1998) Ophthalmic Genet , vol.19 , pp. 157-164
    • Zaremba, J.1    Feil, S.2    Juszko, J.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.