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Volumn 43, Issue 5, 2006, Pages 285-288

The factors influencing visual development in blepharophimosis-ptosis- epicanthus inversus syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMBLYOPIA; ARTICLE; BLEPHAROPHIMOSIS; BLEPHAROPHIMOSIS PTOSIS EPICANTHUS INVERSUS SYNDROME; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; EPICANTHUS; EYE DEVELOPMENT; EYE MOVEMENT; FEMALE; FOLLOW UP; HUMAN; INFANT; MALE; MEDICAL EXAMINATION; NEWBORN; NON INVASIVE PROCEDURE; PTOSIS; REFRACTION ERROR; SPECTACLES; STRABISMUS; STRABISMUS SURGERY; VISUAL ACUITY;

EID: 33750168744     PISSN: 01913913     EISSN: None     Source Type: Journal    
DOI: 10.3928/01913913-20060901-03     Document Type: Article
Times cited : (19)

References (16)
  • 2
    • 0029029527 scopus 로고
    • A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23
    • Amati P, Chomel JC, Nivelon-Chevalier A, et al. A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23. Hum Genet 1995;96:213-215.
    • (1995) Hum Genet , vol.96 , pp. 213-215
    • Amati, P.1    Chomel, J.C.2    Nivelon-Chevalier, A.3
  • 3
    • 0023875626 scopus 로고
    • Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)
    • Oley C, Baraitser M. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome). J Med Genet 1988;25:47-51.
    • (1988) J Med Genet , vol.25 , pp. 47-51
    • Oley, C.1    Baraitser, M.2
  • 4
    • 0015121044 scopus 로고
    • Blepharoptosis, blepharophimosis, epicanthus inversus and telecanthus-A syndrome with no name
    • Kohn R, Romano PE. Blepharoptosis, blepharophimosis, epicanthus inversus and telecanthus-a syndrome with no name. Am J Ophthalmol 1971;72:625-632.
    • (1971) Am J Ophthalmol , vol.72 , pp. 625-632
    • Kohn, R.1    Romano, P.E.2
  • 5
    • 0029616074 scopus 로고
    • Blepharophimosis syndrome: Association with colobomatous microphthalmos
    • Lee LR, Sullivan TJ. Blepharophimosis syndrome: association with colobomatous microphthalmos. Aust N Z J Ophthalmol 1995;23:145-147.
    • (1995) Aust N Z J Ophthalmol , vol.23 , pp. 145-147
    • Lee, L.R.1    Sullivan, T.J.2
  • 6
    • 0031984609 scopus 로고    scopus 로고
    • Blepharophimosis: A causally heterogeneous malformation frequently associated with developmental disabilities
    • Cunniff C, Curtis M, Hassed SJ, Hoyme HE. Blepharophimosis: a causally heterogeneous malformation frequently associated with developmental disabilities. Am J Med Genet 1998;75:52-54.
    • (1998) Am J Med Genet , vol.75 , pp. 52-54
    • Cunniff, C.1    Curtis, M.2    Hassed, S.J.3    Hoyme, H.E.4
  • 7
    • 0029864373 scopus 로고    scopus 로고
    • Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)
    • Stromme P, Sandboe F. Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). Acta Ophthalmol Scand 1996;74:45-47.
    • (1996) Acta Ophthalmol Scand , vol.74 , pp. 45-47
    • Stromme, P.1    Sandboe, F.2
  • 8
    • 0023002097 scopus 로고
    • A genetic-diagnostic survey in an institutionalized population of 173 severely mentally retarded patients
    • Fryns JP, Kleczkowska A, Dereymaeker A, et al. A genetic-diagnostic survey in an institutionalized population of 173 severely mentally retarded patients. Clin Genet 1986;30:315-323.
    • (1986) Clin Genet , vol.30 , pp. 315-323
    • Fryns, J.P.1    Kleczkowska, A.2    Dereymaeker, A.3
  • 9
    • 0020508397 scopus 로고
    • The blepharophimosis, ptosis, and epicanthus inversus syndrome: Delineation of two types
    • Zlotogora J, Sagi M, Cohen T. The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types. Am J Hum Genet 1983;35:1020-1027.
    • (1983) Am J Hum Genet , vol.35 , pp. 1020-1027
    • Zlotogora, J.1    Sagi, M.2    Cohen, T.3
  • 10
    • 0024370323 scopus 로고
    • Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)
    • Temple IK, Baraitser M. Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). J Med Genet 1989;26:517-519.
    • (1989) J Med Genet , vol.26 , pp. 517-519
    • Temple, I.K.1    Baraitser, M.2
  • 11
    • 0035131812 scopus 로고    scopus 로고
    • The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
    • Crisponi L, Deiana M, Loi A, et al. The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet 2001;27:159-166.
    • (2001) Nat Genet , vol.27 , pp. 159-166
    • Crisponi, L.1    Deiana, M.2    Loi, A.3
  • 12
    • 0034013138 scopus 로고    scopus 로고
    • Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases
    • Hargrave M, James K, Nield K, et al. Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases. Hum Genet 2000;106:432-439.
    • (2000) Hum Genet , vol.106 , pp. 432-439
    • Hargrave, M.1    James, K.2    Nield, K.3
  • 13
    • 0038369018 scopus 로고    scopus 로고
    • Blepharophimosis: A recommendation for early surgery in patients with severe ptosis
    • Beckingsale PS, Sullivan TJ, Wong VA, Oley C. Blepharophimosis: a recommendation for early surgery in patients with severe ptosis. Clin Experiment Ophthalmol 2003;31:138-142
    • (2003) Clin Experiment Ophthalmol , vol.31 , pp. 138-142
    • Beckingsale, P.S.1    Sullivan, T.J.2    Wong, V.A.3    Oley, C.4
  • 15
    • 0344994535 scopus 로고    scopus 로고
    • Corneal topography in patients with congenital ptosis
    • Ugurbas SH, Zilelioglu G. Corneal topography in patients with congenital ptosis. Eye 1999;13:550-554.
    • (1999) Eye , vol.13 , pp. 550-554
    • Ugurbas, S.H.1    Zilelioglu, G.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.