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Volumn 76, Issue 1, 1998, Pages 2-5

The genotype-phenotype controversy in ophthalmology. Implications of heterogeneity on diagnosis, embryology and molecular function

Author keywords

Classification of diseases; Embryological genes; Heterogeneity; Metabolites of the eye; Splitters and lumpers

Indexed keywords

STRUCTURAL PROTEIN;

EID: 0031934943     PISSN: 13953907     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1600-0420.1998.760102.x     Document Type: Short Survey
Times cited : (3)

References (38)
  • 1
    • 2642649666 scopus 로고
    • Mitochondrial DNA mutations and the eye
    • Wright AF, Jay B (eds). Harwood Academic Publ. Switzerland
    • Brown MD, Lott MT & Wallace DC (1994): Mitochondrial DNA mutations and the eye. In: Wright AF, Jay B (eds). Molecular genetics of inherited eye disorders, pp 469-490. Harwood Academic Publ. Switzerland.
    • (1994) Molecular Genetics of Inherited Eye Disorders , pp. 469-490
    • Brown, M.D.1    Lott, M.T.2    Wallace, D.C.3
  • 7
    • 2642713472 scopus 로고
    • Inherited retinal degenerations in the mouse
    • Wright AF, Jay B (eds). Harwood Academic Publ. Switzerland
    • Farber DB & Danciger M (1994): Inherited retinal degenerations in the mouse. In: Wright AF, Jay B (eds). Molecular genetics of inherited eye disorders, pp 123-151. Harwood Academic Publ. Switzerland.
    • (1994) Molecular Genetics of Inherited Eye Disorders , pp. 123-151
    • Farber, D.B.1    Danciger, M.2
  • 8
    • 0020069058 scopus 로고
    • Anterior segment mesenchymal dysgenesis: Probable linkage to the MNS blood group on chromosome 4
    • Ferrell RE, Hittner HM, Kretzer FL & Antoszyk JH (1982): Anterior segment mesenchymal dysgenesis: probable linkage to the MNS blood group on chromosome 4. Am J Hum Genet 34: 245-249.
    • (1982) Am J Hum Genet , vol.34 , pp. 245-249
    • Ferrell, R.E.1    Hittner, H.M.2    Kretzer, F.L.3    Antoszyk, J.H.4
  • 9
    • 2642706011 scopus 로고
    • Les cataractes congénitales
    • Paris
    • Francois J (1959): Les cataractes congénitales. Massen et Cie, Paris, pp 1-853.
    • (1959) Massen et Cie , pp. 1-853
    • Francois, J.1
  • 10
    • 0028365352 scopus 로고
    • Retinal signal transmission in Duchenne muscular dystrophy: Evidence for dysfunction in the photoreceptor/depolarizing bipolar cell pathway
    • Fitzgerald KM, Cibis GW, Giambrone SA & Harris DJ (1994): Retinal signal transmission in Duchenne muscular dystrophy: evidence for dysfunction in the photoreceptor/depolarizing bipolar cell pathway. J Clin Invest 93: 2425-2430.
    • (1994) J Clin Invest , vol.93 , pp. 2425-2430
    • Fitzgerald, K.M.1    Cibis, G.W.2    Giambrone, S.A.3    Harris, D.J.4
  • 11
    • 0031909797 scopus 로고    scopus 로고
    • Congenital ectopia lentis. A Danish national survey
    • Fuchs J & Rosenberg T (1998): Congenital ectopia lentis. A Danish national survey. Acta Ophthalmol Scand 76: 20-26.
    • (1998) Acta Ophthalmol Scand , vol.76 , pp. 20-26
    • Fuchs, J.1    Rosenberg, T.2
  • 15
    • 0029050622 scopus 로고
    • Duchenne muscular dystrophy: Negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness
    • Jensen H, Warburg M, Sjö O & Schwartz M (1995): Duchenne muscular dystrophy: negative electroretinograms and normal dark adaptation. Reappraisal of assignment of X linked incomplete congenital stationary night blindness. J Med Genet 32: 348-351.
    • (1995) J Med Genet , vol.32 , pp. 348-351
    • Jensen, H.1    Warburg, M.2    Sjö, O.3    Schwartz, M.4
  • 20
    • 2642708511 scopus 로고
    • On Lumpers and Splitters or the nosology of genetic disease
    • McKusick VA (1969): On Lumpers and Splitters or the nosology of genetic disease. Birth Defects. OAS. Vol 5/1: 23-32.
    • (1969) Birth Defects. OAS , vol.5 , Issue.1 , pp. 23-32
    • McKusick, V.A.1
  • 23
    • 0031936741 scopus 로고    scopus 로고
    • Deletion of mitochondrial DNA nucleotide 11778 point mutation of Leber hereditary optic neuropathy from archival stained histopathological preparations
    • Mitani I, Miyazaki S, Hayashi T & Fukidome Y (1998): Deletion of mitochondrial DNA nucleotide 11778 point mutation of Leber hereditary optic neuropathy from archival stained histopathological preparations. Acta Ophthalmol Scand 76: 14-19.
    • (1998) Acta Ophthalmol Scand , vol.76 , pp. 14-19
    • Mitani, I.1    Miyazaki, S.2    Hayashi, T.3    Fukidome, Y.4
  • 24
    • 0021227126 scopus 로고
    • A case of partial monosomy 21 q22.2 associated with Rieger's syndrome
    • Nielsen F & Tranebjærg L (1984): A case of partial monosomy 21 q22.2 associated with Rieger's syndrome. J Med Genet 21:218-221.
    • (1984) J Med Genet , vol.21 , pp. 218-221
    • Nielsen, F.1    Tranebjærg, L.2
  • 26
    • 0031886410 scopus 로고    scopus 로고
    • Rubinstein-Taybi syndrome and congenital glaucoma
    • Quaranta L & Quaranta CA (1998): Rubinstein-Taybi syndrome and congenital glaucoma. Acta Ophthalmol Scand 76: 112-113.
    • (1998) Acta Ophthalmol Scand , vol.76 , pp. 112-113
    • Quaranta, L.1    Quaranta, C.A.2
  • 29
    • 0025940605 scopus 로고
    • Åland eye disease: Linkage data
    • Schwartz M & Rosenberg T (1991): Åland eye disease: linkage data. Genomics 10: 327-332.
    • (1991) Genomics , vol.10 , pp. 327-332
    • Schwartz, M.1    Rosenberg, T.2
  • 31
    • 0028060401 scopus 로고
    • Retinitis pigmentosa and related disorders: Phenotypes of rhodopsin and peripherin/RDS mutations
    • Shastry BS (1994): Retinitis pigmentosa and related disorders: phenotypes of rhodopsin and peripherin/RDS mutations. Am J Med Genet 52: 467-474.
    • (1994) Am J Med Genet , vol.52 , pp. 467-474
    • Shastry, B.S.1
  • 33
    • 0030075977 scopus 로고    scopus 로고
    • Dystrophin localization at synapse
    • Stell WK (1996): Dystrophin localization at synapse. Invest Ophthalmol Vis Sei 37: 255-255.
    • (1996) Invest Ophthalmol Vis Sei , vol.37 , pp. 255-255
    • Stell, W.K.1
  • 35
    • 0029852490 scopus 로고    scopus 로고
    • Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct
    • Walter MA, Mirzayans F, Mears AJ, Mickey K &, Pearce WP (1996): Autosomal-dominant iridogoniodysgenesis and Axenfeld-Rieger syndrome are genetically distinct. Ophthalmology 103: 1907-1915.
    • (1996) Ophthalmology , vol.103 , pp. 1907-1915
    • Walter, M.A.1    Mirzayans, F.2    Mears, A.J.3    Mickey, K.4    Pearce, W.P.5
  • 36
    • 84907112423 scopus 로고
    • An update on microphthalmos and coloboma. A brief survey of genetic disorders with microphthalmos and coloboma
    • Warburg M (1991): An update on microphthalmos and coloboma. A brief survey of genetic disorders with microphthalmos and coloboma. Ophthalm Paediatr Genet 12: 57-64.
    • (1991) Ophthalm Paediatr Genet , vol.12 , pp. 57-64
    • Warburg, M.1
  • 37
    • 0028912894 scopus 로고
    • Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay
    • Warburg M, Bugge M & Brøndum-Nielsen K (1995): Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay. J Med Genet 32: 19-24.
    • (1995) J Med Genet , vol.32 , pp. 19-24
    • Warburg, M.1    Bugge, M.2    Brøndum-Nielsen, K.3
  • 38
    • 0027434085 scopus 로고
    • Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the periperin/RDS gene
    • Weleber RG, Carr RE, Murphey WH, Sheffield VC & Stone EM (1993): Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the periperin/RDS gene. Arch Ophthalmol 111: 1531-1542.
    • (1993) Arch Ophthalmol , vol.111 , pp. 1531-1542
    • Weleber, R.G.1    Carr, R.E.2    Murphey, W.H.3    Field, V.C.4    Stone, E.M.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.