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Journal of Medical Genetics
Volumn 35, Issue 12, 1998, Pages 985-988
Locus heterogeneity in autosomal dominant congenital external ophthalmoplegia (CFEOM)
Author keywords

CFEOM; Chromosome 12; Heterogeneity
Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 12; CLINICAL ARTICLE; EXTERNAL OPHTHALMOPLEGIA; EYE MOVEMENT; EYELID; FEMALE; GENE LOCUS; HUMAN; MALE; PRIORITY JOURNAL; RECOMBINANT GENE;
EID: 0031786458     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.12.985     Document Type: Article
Times cited : (6)
References (10)
  • 1
    • 85010246798 scopus 로고
    • Congenital fibrosis of the extraocular muscles: A report of six cases
    • Laughlin RC. Congenital fibrosis of the extraocular muscles: a report of six cases. Am J Ophthalmol 1956;41:432-8.
    • (1956) Am J Ophthalmol , vol.41 , pp. 432-438
    • Laughlin, R.C.1
  • 3
    • 0024400197 scopus 로고
    • Neural misdirection in congenital ocular fibrosis syndrome: Implications and pathogenesis
    • Brodsky MC, Pollock SC, Buckley EG. Neural misdirection in congenital ocular fibrosis syndrome: implications and pathogenesis. Paediatr Ophthalmol Strabismus 1989;26:159-61.
    • (1989) Paediatr Ophthalmol Strabismus , vol.26 , pp. 159-161
    • Brodsky, M.C.1    Pollock, S.C.2    Buckley, E.G.3
  • 4
    • 0028168147 scopus 로고
    • Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12
    • Engle EC, Kunkel LM, Specht LA, Beggs AH. Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nat Genet 1994;7:69-73.
    • (1994) Nat Genet , vol.7 , pp. 69-73
    • Engle, E.C.1    Kunkel, L.M.2    Specht, L.A.3    Beggs, A.H.4
  • 5
    • 0028784357 scopus 로고
    • Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): Genetic homogeneity, linkage refinement and physical mapping on chromosome 12
    • Engle EC, Marondel I, Houtman WA, et al. Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement and physical mapping on chromosome 12. Am J Hum Genet 1995;57:1086-94.
    • (1995) Am J Hum Genet , vol.57 , pp. 1086-1094
    • Engle, E.C.1    Marondel, I.2    Houtman, W.A.3
  • 6
    • 0032231607 scopus 로고    scopus 로고
    • Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13
    • Wang SM, Zwaan J, Mullaney PB, et al. Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. Am J Hum Genet 1998;63:517-25.
    • (1998) Am J Hum Genet , vol.63 , pp. 517-525
    • Wang, S.M.1    Zwaan, J.2    Mullaney, P.B.3
  • 7
    • 0030895262 scopus 로고    scopus 로고
    • A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1
    • Engle EC, Castro AE, Macy ME, Knoll JHM, Beggs AH. A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1. Am J Hum Genet 1997;60:1150-7.
    • (1997) Am J Hum Genet , vol.60 , pp. 1150-1157
    • Engle, E.C.1    Castro, A.E.2    Macy, M.E.3    Knoll, J.H.M.4    Beggs, A.H.5
  • 8
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Faure S, Fizames C, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nat Genet 1996;380:152-4.
    • (1996) Nat Genet , vol.380 , pp. 152-154
    • Dib, C.1    Faure, S.2    Fizames, C.3
  • 9
    • 0017816912 scopus 로고
    • Generalised fibrosis of the extraocular muscles
    • Apt L, Axelrod RN. Generalised fibrosis of the extraocular muscles. Am J Ophthalmol 1978;85:822-9.
    • (1978) Am J Ophthalmol , vol.85 , pp. 822-829
    • Apt, L.1    Axelrod, R.N.2
  • 10
    • 0017068330 scopus 로고
    • Dominantly inherited ptosis, strabismus and ectopic pupils
    • McPherson E, Robertson C, Cammarano A, Hall J. Dominantly inherited ptosis, strabismus and ectopic pupils. Clin Genet 1976;10:21-6.
    • (1976) Clin Genet , vol.10 , pp. 21-26
    • McPherson, E.1    Robertson, C.2    Cammarano, A.3    Hall, J.4

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.