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Volumn 77, Issue 2, 2000, Pages 88-91

Missense mutations in Norrie disease gene are not associated with advanced stages of retinopathy of prematurity in Kuwaiti Arabs

Author keywords

Genotype; Missense mutation; Polymerase chain reaction; Retinopathy of prematurity

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DNA SEQUENCE; EXON; GENOTYPE; HUMAN; KUWAIT; MISSENSE MUTATION; NEWBORN; NEWBORN SCREENING; NORRIE DISEASE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RETROLENTAL FIBROPLASIA;

EID: 0033973673     PISSN: 00063126     EISSN: None     Source Type: Journal    
DOI: 10.1159/000014199     Document Type: Article
Times cited : (21)

References (22)
  • 2
    • 0021243811 scopus 로고
    • An international classification of retinopathy of prematurity
    • The Committee for the Classification of Retinopathy of Prematurity: An international classification of retinopathy of prematurity. Arch Ophthalmol 1984;102:1130-1134: Pediatrics 1984;74:127-133.
    • (1984) Arch Ophthalmol , vol.102 , pp. 1130-1134
  • 3
    • 0021226956 scopus 로고
    • The Committee for the Classification of Retinopathy of Prematurity: An international classification of retinopathy of prematurity. Arch Ophthalmol 1984;102:1130-1134: Pediatrics 1984;74:127-133.
    • (1984) Pediatrics , vol.74 , pp. 127-133
  • 4
    • 0023273487 scopus 로고
    • An international classification of retinopathy of prematurity. II. The classification of retinal detachment
    • The International Committee for the Classification of Late Stages of Retinopathy of Prematurity: An international classification of retinopathy of prematurity. II. The classification of retinal detachment. Arch Ophthalmol 1987; 105:906-912.
    • (1987) Arch Ophthalmol , vol.105 , pp. 906-912
  • 5
    • 0032495997 scopus 로고    scopus 로고
    • Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy
    • Shastry BS: Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy. Biochem Biophys Res Commun 1998;246:35-38.
    • (1998) Biochem Biophys Res Commun , vol.246 , pp. 35-38
    • Shastry, B.S.1
  • 6
    • 0028307405 scopus 로고
    • The natural ocular outcome of premature birth and retinopathy: Status at 1 year
    • Cryotherapy for Retinopathy of Prematurity Cooperative Group: The natural ocular outcome of premature birth and retinopathy: Status at 1 year. Arch Ophthalmol 1994;112:903-912.
    • (1994) Arch Ophthalmol , vol.112 , pp. 903-912
  • 10
    • 0027427992 scopus 로고
    • Identification of a nonsense mutation at codon 128 of the Norrie disease gene in a male infant
    • Wong F, Goldberg MF, Hao Y: Identification of a nonsense mutation at codon 128 of the Norrie disease gene in a male infant. Arch Ophthalmol 1993;111:1553-1557.
    • (1993) Arch Ophthalmol , vol.111 , pp. 1553-1557
    • Wong, F.1    Goldberg, M.F.2    Hao, Y.3
  • 12
    • 0029154918 scopus 로고
    • Missense mutation (Arg121Trp) in the Norrie disease gene associated with X-linked familial exudative vitreoretinopathy
    • Fichs S, Kellner Y, Weddemann H: Missense mutation (Arg121Trp) in the Norrie disease gene associated with X-linked familial exudative vitreoretinopathy. Hum Mutat 1995;6: 257-259.
    • (1995) Hum Mutat , vol.6 , pp. 257-259
    • Fichs, S.1    Kellner, Y.2    Weddemann, H.3
  • 13
    • 0027213199 scopus 로고
    • Norrie diease gene: Characterization of deletions and possible function
    • Chen ZY, Battinelli EM, Hendriks RW: Norrie diease gene: Characterization of deletions and possible function. Genomics 1993;16:533-535.
    • (1993) Genomics , vol.16 , pp. 533-535
    • Chen, Z.Y.1    Battinelli, E.M.2    Hendriks, R.W.3
  • 14
    • 0027377708 scopus 로고
    • Molecular modeling of the Norrie disease protein predicts a cysteine-knot growth factor tertiary structure
    • Meitinger T, Meindl A, Bork P: Molecular modeling of the Norrie disease protein predicts a cysteine-knot growth factor tertiary structure. Nature Genet 1993;5:376-380.
    • (1993) Nature Genet , vol.5 , pp. 376-380
    • Meitinger, T.1    Meindl, A.2    Bork, P.3
  • 15
    • 0017621794 scopus 로고
    • 2 levels and retrolental fibroplasia: A report of the cooperative study
    • 2 levels and retrolental fibroplasia: A report of the cooperative study. Pediatrics 1977;60:655-668.
    • (1977) Pediatrics , vol.60 , pp. 655-668
    • Kinsey, V.E.1    Arnold, H.J.2    Kalina, R.E.3
  • 16
    • 0026063352 scopus 로고
    • Incidence and early course of retinopathy of prematurity: The Cryotherapy for Retinopathy of Prematurity Cooperative Group
    • Palmer EA, Flynn JT, Hardy RJ: Incidence and early course of retinopathy of prematurity: The Cryotherapy for Retinopathy of Prematurity Cooperative Group. Ophthalmology 1991;98: 1628-1640.
    • (1991) Ophthalmology , vol.98 , pp. 1628-1640
    • Palmer, E.A.1    Flynn, J.T.2    Hardy, R.J.3
  • 17
    • 0030919857 scopus 로고    scopus 로고
    • Identification of missense mutations in the Norrie disease gene associated with advanced Retinopathy of prematurity
    • Shastry BS, Pendergast SD, Hartzer MK: Identification of missense mutations in the Norrie disease gene associated with advanced Retinopathy of prematurity. Arch Ophthalmol 1997;115:651-655.
    • (1997) Arch Ophthalmol , vol.115 , pp. 651-655
    • Shastry, B.S.1    Pendergast, S.D.2    Hartzer, M.K.3
  • 19
    • 0023739354 scopus 로고
    • Epidemiology of retinopathy of prematurity
    • Ng YK, Fielder AR, Shaw DE, Leven MI: Epidemiology of retinopathy of prematurity. Lancet 1988;ii:1235-1238.
    • (1988) Lancet , vol.2 , pp. 1235-1238
    • Ng, Y.K.1    Fielder, A.R.2    Shaw, D.E.3    Leven, M.I.4
  • 20
    • 0021972010 scopus 로고
    • Retinopathy of prematurity: Incidence and treatment
    • Reisner SH, Amir I, Shohat M: Retinopathy of prematurity: Incidence and treatment. Arch Dis Child 1985;60:698-701.
    • (1985) Arch Dis Child , vol.60 , pp. 698-701
    • Reisner, S.H.1    Amir, I.2    Shohat, M.3
  • 21
    • 0028244697 scopus 로고
    • Susceptibility of retinopathy of prematurity in Alaskan Natives
    • Arnold RW, Kesler K, Avila E: Susceptibility of retinopathy of prematurity in Alaskan Natives. J Pediatr Ophthalmol Strabismus 1994; 31:192-194.
    • (1994) J Pediatr Ophthalmol Strabismus , vol.31 , pp. 192-194
    • Arnold, R.W.1    Kesler, K.2    Avila, E.3
  • 22
    • 0028298905 scopus 로고
    • Retinopathy of prematurity: Review of a seven-year period in a Danish neonatal intensive care unit
    • Arroe M, Peitersen B: Retinopathy of prematurity: Review of a seven-year period in a Danish neonatal intensive care unit. Acta Pediatr 1994;83:501-505.
    • (1994) Acta Pediatr , vol.83 , pp. 501-505
    • Arroe, M.1    Peitersen, B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.