메뉴 건너뛰기




Volumn 110, Issue 5, 2002, Pages 462-470

Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUSTRALIA; CHROMOSOME 20Q; CHROMOSOME MARKER; CHROMOSOME PAIRING; CLINICAL ARTICLE; CONTROLLED STUDY; CORNEA DYSTROPHY; DOMINANT INHERITANCE; GENE; GENE FREQUENCY; GENE IDENTIFICATION; GENE ISOLATION; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENOME; GENOTYPE; HAPLOTYPE; HUMAN; INCIDENCE; KERATOCONUS; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0036590069     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-002-0705-7     Document Type: Article
Times cited : (87)

References (30)
  • 1
    • 0033603146 scopus 로고    scopus 로고
    • Health care concerns and guidelines for adults with Down syndrome
    • Van Allen MI, Fung J, Jurenka SB (1999) Health care concerns and guidelines for adults with Down syndrome. Am J Med Genet 89:100-110
    • (1999) Am J Med Genet , vol.89 , pp. 100-110
    • Van Allen, M.I.1    Fung, J.2    Jurenka, S.B.3
  • 2
    • 0000867912 scopus 로고
    • Marfan's syndrome with unusual blood vessel manifestations
    • Austin MG, Schaefer RF (1957) Marfan's syndrome with unusual blood vessel manifestations. Arch Pathol 64:204-209
    • (1957) Arch Pathol , vol.64 , pp. 204-209
    • Austin, M.G.1    Schaefer, R.F.2
  • 4
    • 0023786187 scopus 로고
    • Keratoconus
    • Bron AJ (1995) Keratoconus. Cornea 7:163-169
    • (1988) Cornea , vol.7 , pp. 163-169
    • Bron, A.J.1
  • 6
    • 0030006449 scopus 로고    scopus 로고
    • Identification of a polymorphic CA repeat in the COL6A2 gene on human chromosome 21q22.3
    • Comeglio P, Saitta B, Pepe G, Chu ML (1996) Identification of a polymorphic CA repeat in the COL6A2 gene on human chromosome 21q22.3. Hum Hered 46:239-240
    • (1996) Hum Hered , vol.46 , pp. 239-240
    • Comeglio, P.1    Saitta, B.2    Pepe, G.3    Chu, M.L.4
  • 7
    • 0030826275 scopus 로고    scopus 로고
    • Genome scanning for segments shared identical by descent among distant relatives in isolated populations
    • Durham LK, Feingold E (1997) Genome scanning for segments shared identical by descent among distant relatives in isolated populations. Am J Hum Genet 61:830-842
    • (1997) Am J Hum Genet , vol.61 , pp. 830-842
    • Durham, L.K.1    Feingold, E.2
  • 8
    • 0028110401 scopus 로고
    • Lysosomal enzyme activities in conjunctival tissues of patients with keratoconus
    • Fukuchi T, Yue BY, Sugar J, Lam S (1994) Lysosomal enzyme activities in conjunctival tissues of patients with keratoconus. Arch Ophthalmol 112:1368-1374
    • (1994) Arch Ophthalmol , vol.112 , pp. 1368-1374
    • Fukuchi, T.1    Yue, B.Y.2    Sugar, J.3    Lam, S.4
  • 10
    • 0022509824 scopus 로고
    • Clinical and epidemiological features of keratoconus genetic and external factors in the pathogenesis of the disease
    • Ihalainen A (1986) Clinical and epidemiological features of keratoconus genetic and external factors in the pathogenesis of the disease. Acta Opthalmol Suppl 178:1-64
    • (1986) Acta Opthalmol Suppl , vol.178 , pp. 1-64
    • Ihalainen, A.1
  • 11
    • 0028325414 scopus 로고
    • Increased gelatinolytic activity in keratoconus keratocyte cultures. A correlation to an altered matrix metalloproteinase-2/tissue inhibitor of metalloproteinase ratio
    • Kenney MC, Chwa M, Opbroek AJ, Brown DJ (1994) Increased gelatinolytic activity in keratoconus keratocyte cultures. A correlation to an altered matrix metalloproteinase-2/tissue inhibitor of metalloproteinase ratio. Cornea 13:114-124
    • (1994) Cornea , vol.13 , pp. 114-124
    • Kenney, M.C.1    Chwa, M.2    Opbroek, A.J.3    Brown, D.J.4
  • 13
    • 0022577146 scopus 로고
    • A 48-year clinical and epidemiologic study of keratoconus
    • Kennedy RH, Bourne WM, Dyer JA (1986) A 48-year clinical and epidemiologic study of keratoconus. Am J Ophthalmol 101:267-273
    • (1986) Am J Ophthalmol , vol.101 , pp. 267-273
    • Kennedy, R.H.1    Bourne, W.M.2    Dyer, J.A.3
  • 14
    • 0021343891 scopus 로고
    • Keratoconus and related noninflammatory corneal thinning disorders
    • Krachmer JH, Feder RS, Belin MW (1984) Keratoconus and related noninflammatory corneal thinning disorders. Surv Ophthalmol 28:293-322
    • (1984) Surv Ophthalmol , vol.28 , pp. 293-322
    • Krachmer, J.H.1    Feder, R.S.2    Belin, M.W.3
  • 15
    • 0017663296 scopus 로고
    • Ehlers-Danlos syndrome associated with keratoconus. A case report
    • Kuming BS, Joffe L (1977) Ehlers-Danlos syndrome associated with keratoconus. A case report. S Afr Med J 52:403-405
    • (1977) S Afr Med J , vol.52 , pp. 403-405
    • Kuming, B.S.1    Joffe, L.2
  • 18
    • 0028949919 scopus 로고
    • Random search for shared chromosomal regions in four affected individuals: The assignment of a new hereditary ataxia locus
    • Nikali K, Suomalainen A, Terwilliger J, Koskinen T, Weissenbach J, Peltonen L (1995) Random search for shared chromosomal regions in four affected individuals: The assignment of a new hereditary ataxia locus. Am J Hum Genet 56:1088-1095
    • (1995) Am J Hum Genet , vol.56 , pp. 1088-1095
    • Nikali, K.1    Suomalainen, A.2    Terwilliger, J.3    Koskinen, T.4    Weissenbach, J.5    Peltonen, L.6
  • 19
    • 0032869123 scopus 로고    scopus 로고
    • Molecular genetics of the Finnish disease heritage
    • Peltonen L, Jalanko A, Varilo T (1999) Molecular genetics of the Finnish disease heritage. Hum Mol Genet 8:1913-1923
    • (1999) Hum Mol Genet , vol.8 , pp. 1913-1923
    • Peltonen, L.1    Jalanko, A.2    Varilo, T.3
  • 21
    • 0031820809 scopus 로고    scopus 로고
    • Altered organization of collagen in the apex of keratoconus corneas
    • Radner W, Zehetmayer M, Skorpik C, Mallinger R (1998) Altered organization of collagen in the apex of keratoconus corneas. Ophthalmic Res 30:327-332
    • (1998) Ophthalmic Res , vol.30 , pp. 327-332
    • Radner, W.1    Zehetmayer, M.2    Skorpik, C.3    Mallinger, R.4
  • 22
    • 0016788205 scopus 로고
    • Keratoconus and the Ehlers-Danlos syndrome: A new aspect of keratoconus
    • Robertson I (1975) Keratoconus and the Ehlers-Danlos syndrome: A new aspect of keratoconus. Med J Aust 1:571-573
    • (1975) Med J Aust , vol.1 , pp. 571-573
    • Robertson, I.1
  • 24
    • 0028607119 scopus 로고
    • Keratoconus and familial topographic corneal anomalies
    • Salabert D, Cochener B, Mage F, Colin J (1994) Keratoconus and familial topographic corneal anomalies. J Fr Ophthalmol 17:646-656
    • (1994) J Fr Ophthalmol , vol.17 , pp. 646-656
    • Salabert, D.1    Cochener, B.2    Mage, F.3    Colin, J.4
  • 25
    • 0021792234 scopus 로고
    • The ocular features of Down's syndrome
    • Shapiro MB, France TD (1985) The ocular features of Down's syndrome. Am J Ophthalmol 99:659-663
    • (1985) Am J Ophthalmol , vol.99 , pp. 659-663
    • Shapiro, M.B.1    France, T.D.2
  • 26
    • 0028828135 scopus 로고
    • Perspectives of identity by descent (IBD) mapping in founder populations
    • Te Meerman GJ, Van Der Meulen MA, Sandkuijl LA (1995) Perspectives of identity by descent (IBD) mapping in founder populations. Clin Exp Allergy 25 (Suppl 2):97-102
    • (1995) Clin Exp Allergy , vol.25 , Issue.SUPPL. 2 , pp. 97-102
    • Te Meerman, G.J.1    Van Der Meulen, M.A.2    Sandkuijl, L.A.3
  • 27
    • 0034726692 scopus 로고    scopus 로고
    • Genetic epidemiological study of keratoconus: Evidence for major gene determination
    • Wang Y, Rabinowiz YS, Rotter JL, Yang H (2000) Genetic epidemiological study of keratoconus: Evidence for major gene determination. Am J Med Genet 93:403-409
    • (2000) Am J Med Genet , vol.93 , pp. 403-409
    • Wang, Y.1    Rabinowiz, Y.S.2    Rotter, J.L.3    Yang, H.4
  • 29
    • 0021955317 scopus 로고
    • RNA metabolism in cultures of corneal stromal cells from patients with keratoconus
    • Yue BY, Sugar J, Benveniste K (1985) RNA metabolism in cultures of corneal stromal cells from patients with keratoconus. Proc Soc Exp Biol Med 178:126-132
    • (1985) Proc Soc Exp Biol Med , vol.178 , pp. 126-132
    • Yue, B.Y.1    Sugar, J.2    Benveniste, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.