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Volumn 19, Issue 4, 1998, Pages 203-207

Isolated Norrie disease in a female caused by a balanced translocation t(X,6)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME BREAKAGE; CHROMOSOME TRANSLOCATION X; CONGENITAL GLAUCOMA; ECHOGRAPHY; FEMALE; HUMAN; HUMAN TISSUE; INFANT; LEUKOKORIA; MICROPHTHALMIA; NORRIE DISEASE; PATIENT REFERRAL; PRIORITY JOURNAL; VITREOUS BODY;

EID: 0032421275     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1076/opge.19.4.203.2306     Document Type: Article
Times cited : (12)

References (21)
  • 2
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    • Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy
    • Shastry BS, Hejtmancik JF, Trese MT. Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy. Hum Mutat 1997; 9: 396 – 401.
    • (1997) Hum Mutat , vol.9 , pp. 396-401
    • Shastry, B.S.1    Hejtmancik, J.F.2    Trese, M.T.3
  • 3
    • 0027367772 scopus 로고
    • A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy
    • Chen ZY, Battinelli EM, Fielder A, Bundey S, Sims K, Breakefield XO, Craig IW. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nat Genet 1993; 5: 180 – 183.
    • (1993) Nat Genet , vol.5 , pp. 180-183
    • Chen, Z.Y.1    Battinelli, E.M.2    Fielder, A.3    Bundey, S.4    Sims, K.5    Breakefield, X.O.6    Craig, I.W.7
  • 9
    • 0027377708 scopus 로고
    • Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure
    • Meitinger T, Meindl A, Bork P, Rost B, Sander C, Haasemann M, Murken J. Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure. Nat Genet 1993; 5: 376 – 380.
    • (1993) Nat Genet , vol.5 , pp. 376-380
    • Meitinger, T.1    Meindl, A.2    Bork, P.3    Rost, B.4    Sander, C.5    Haasemann, M.6    Murken, J.7
  • 10
    • 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 1961; 39: 757 – 772.
    • (1961) Acta Ophthalmol , vol.39 , pp. 757-772
    • Warburg, M.1
  • 12
    • 0013991114 scopus 로고
    • Norrie &s disease, a congenital progressive oculo-acoustico-cerebral degeneration
    • Warburg M. Norrie &s disease, a congenital progressive oculo-acoustico-cerebral degeneration. Acta Ophthalmol 1966;89(Suppl.): 1 – 147.
    • (1966) Acta Ophthalmol , vol.89 , pp. 1-147
    • Warburg, M.1
  • 13
    • 0024458747 scopus 로고
    • Norrie's disease: a prospective study of development
    • Goodyear HM, Sonksen PM, McConachie H. Norrie's disease: a prospective study of development. Arch Dis Child 1989; 64: 1587 – 1592.
    • (1989) Arch Dis Child , vol.64 , pp. 1587-1592
    • Goodyear, H.M.1    Sonksen, P.M.2    McConachie, H.3
  • 15
    • 0014621168 scopus 로고
    • Norrie's disease in North America
    • Blodi FC, Hunter WS. Norrie's disease in North America. Doc Ophthalmol 1969; 26: 434 – 450.
    • (1969) Doc Ophthalmol , vol.26 , pp. 434-450
    • Blodi, F.C.1    Hunter, W.S.2
  • 19
    • 0022634151 scopus 로고
    • Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation
    • Ohba N, Yamashita T. Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation. Br J Ophthalmol 1986; 70: 64 – 71.
    • (1986) Br J Ophthalmol , vol.70 , pp. 64-71
    • Ohba, N.1    Yamashita, T.2
  • 20
    • 0030808109 scopus 로고    scopus 로고
    • Histopathological and immunohistochemical findings associated with a null mutation in the Norrie disease gene
    • Schroeder B, Hesse L, Brück W, Gal A. Histopathological and immunohistochemical findings associated with a null mutation in the Norrie disease gene. Ophthalmic Genet 1997; 18: 71 – 77.
    • (1997) Ophthalmic Genet , vol.18 , pp. 71-77
    • Schroeder, B.1    Hesse, L.2    Brück, W.3    Gal, A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.