메뉴 건너뛰기




Volumn 145, Issue 4, 2008, Pages 760-764

Aniridia with Preserved Visual Function: A Report of Four Cases with No Mutations in PAX6

Author keywords

[No Author keywords available]

Indexed keywords

ANIRIDIA; ARTICLE; CASE REPORT; CHILD; GENE; GENE MUTATION; HUMAN; INFANT; MOLECULAR GENETICS; NEWBORN; NYSTAGMUS; OPTICAL COHERENCE TOMOGRAPHY; PAX6 GENE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; VISION;

EID: 40849135619     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2007.12.012     Document Type: Article
Times cited : (12)

References (15)
  • 1
    • 0028271742 scopus 로고
    • Variability of iris defects in autosomal dominant aniridia
    • Pearce W. Variability of iris defects in autosomal dominant aniridia. Can J Ophthalmol 29 (1994) 25-29
    • (1994) Can J Ophthalmol , vol.29 , pp. 25-29
    • Pearce, W.1
  • 2
    • 0031033915 scopus 로고    scopus 로고
    • The PAX6 homeobox gene is expressed throughout the corneal and conjunctival epithelia
    • Koroma B.M., Yang J.M., and Sundin O.H. The PAX6 homeobox gene is expressed throughout the corneal and conjunctival epithelia. Invest Ophthalmol Vis Sci 38 (1997) 108-120
    • (1997) Invest Ophthalmol Vis Sci , vol.38 , pp. 108-120
    • Koroma, B.M.1    Yang, J.M.2    Sundin, O.H.3
  • 3
    • 0024842750 scopus 로고
    • Autosomal dominant aniridia linked to the chromosome 11p13 markers catalase and D11S151 in a large Dutch family
    • Mannens M., Bleeker-Wagemakers E., Bliek J., et al. Autosomal dominant aniridia linked to the chromosome 11p13 markers catalase and D11S151 in a large Dutch family. Cytogenet Cell Genet 52 (1989) 32-36
    • (1989) Cytogenet Cell Genet , vol.52 , pp. 32-36
    • Mannens, M.1    Bleeker-Wagemakers, E.2    Bliek, J.3
  • 4
    • 0026949405 scopus 로고
    • Genomic structure evolutionary conservation and aniridia mutations in the human PAX6 gene
    • Glaser T., Walton D., and Maas R. Genomic structure evolutionary conservation and aniridia mutations in the human PAX6 gene. Nature Genet 2 (1992) 232-239
    • (1992) Nature Genet , vol.2 , pp. 232-239
    • Glaser, T.1    Walton, D.2    Maas, R.3
  • 5
    • 0029097307 scopus 로고
    • Mutation of the PAX6 gene in patients with autosomal dominant keratitis
    • Mirzayans F., Pearce W., MacDonald I., and Walter M. Mutation of the PAX6 gene in patients with autosomal dominant keratitis. Am J Hum Genet 57 (1995) 539-548
    • (1995) Am J Hum Genet , vol.57 , pp. 539-548
    • Mirzayans, F.1    Pearce, W.2    MacDonald, I.3    Walter, M.4
  • 6
    • 0028308664 scopus 로고
    • Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly
    • Hanson I., Fletcher J., Jordan T., et al. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nature Genet 6 (1994) 168-173
    • (1994) Nature Genet , vol.6 , pp. 168-173
    • Hanson, I.1    Fletcher, J.2    Jordan, T.3
  • 7
    • 0032899711 scopus 로고    scopus 로고
    • Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations
    • Hanson I., Churchill A., Love J., et al. Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. Hum Mol Genet 8 (1999) 165-172
    • (1999) Hum Mol Genet , vol.8 , pp. 165-172
    • Hanson, I.1    Churchill, A.2    Love, J.3
  • 8
    • 0037739999 scopus 로고    scopus 로고
    • Polymicrogyria and absence of pineal gland due to PAX6 mutation
    • Mitchell T.N., Free S.L., Williamson K.A., et al. Polymicrogyria and absence of pineal gland due to PAX6 mutation. Ann Neurol 53 (2003) 658-663
    • (2003) Ann Neurol , vol.53 , pp. 658-663
    • Mitchell, T.N.1    Free, S.L.2    Williamson, K.A.3
  • 9
    • 4644256831 scopus 로고    scopus 로고
    • Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia
    • Gronskov K., Olsen J.H., Sand A., et al. Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia. Hum Genet 109 (2001) 11-18
    • (2001) Hum Genet , vol.109 , pp. 11-18
    • Gronskov, K.1    Olsen, J.H.2    Sand, A.3
  • 10
    • 0030927863 scopus 로고    scopus 로고
    • The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases
    • Axton R., Hanson I., Danes S., Sellar G., van Heyningen V., and Prosser J. The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases. J Med Genet 34 (1997) 279-286
    • (1997) J Med Genet , vol.34 , pp. 279-286
    • Axton, R.1    Hanson, I.2    Danes, S.3    Sellar, G.4    van Heyningen, V.5    Prosser, J.6
  • 11
    • 0017644547 scopus 로고
    • Familial aniridia with preserved ocular function
    • Elsas F., Maumenee I., Kenyon K., and Yoder F. Familial aniridia with preserved ocular function. Am J Ophthalmol 83 (1977) 718-724
    • (1977) Am J Ophthalmol , vol.83 , pp. 718-724
    • Elsas, F.1    Maumenee, I.2    Kenyon, K.3    Yoder, F.4
  • 12
    • 0018872760 scopus 로고
    • Autosomal dominant aniridia: probable linkage to the acid phosphatase-1 locus on chromosome 2
    • Ferrell R., Chakravarti A., Hittner H., and Riccardi V. Autosomal dominant aniridia: probable linkage to the acid phosphatase-1 locus on chromosome 2. Proc Natl Acad Sci U S A 77 (1980) 1580-1582
    • (1980) Proc Natl Acad Sci U S A , vol.77 , pp. 1580-1582
    • Ferrell, R.1    Chakravarti, A.2    Hittner, H.3    Riccardi, V.4
  • 14
    • 0032903663 scopus 로고    scopus 로고
    • Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype
    • Gronskov K., Rosenberg T., Sand A., and Brondum-Nielsen K. Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. Eur J Hum Genet 7 (1999) 274-286
    • (1999) Eur J Hum Genet , vol.7 , pp. 274-286
    • Gronskov, K.1    Rosenberg, T.2    Sand, A.3    Brondum-Nielsen, K.4
  • 15
    • 25444528475 scopus 로고    scopus 로고
    • PAX6 mutations: genotype-phenotype correlations
    • Tzoulaki I., White I.M.S., and Hanson I.M. PAX6 mutations: genotype-phenotype correlations. BMC Genet 6 (2005) 27
    • (2005) BMC Genet , vol.6 , pp. 27
    • Tzoulaki, I.1    White, I.M.S.2    Hanson, I.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.