메뉴 건너뛰기




Volumn 42, Issue 5, 2006, Pages 409-414

Mutation analysis of FOXL2 in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome

Author keywords

Blepharophimosis; Chromosome mapping; DNA binding proteins; Mutation; Transcription factors

Indexed keywords

DNA FRAGMENT; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXL2; UNCLASSIFIED DRUG;

EID: 33745796792     PISSN: 04124081     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)

References (14)
  • 1
    • 0020508397 scopus 로고
    • The blepharophimosis, ptosis, epicanthus inversus syndrome: Delineation of two types
    • Zlotogora J, Sagi M, Cohen T. The blepharophimosis, ptosis, 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
  • 2
    • 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
  • 4
    • 0037318857 scopus 로고    scopus 로고
    • FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
    • De Baere E, Beysen D, Oley C, et al. FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet, 2003,72:478-487.
    • (2003) Am J Hum Genet , vol.72 , pp. 478-487
    • De Baere, E.1    Beysen, D.2    Oley, C.3
  • 5
    • 0027443190 scopus 로고
    • Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22. 3-q23
    • Fryns JP, Stromme P, van den Berghe H. Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22. 3-q23. Clin Genet, 1993,44:149-151.
    • (1993) Clin Genet , vol.44 , pp. 149-151
    • Fryns, J.P.1    Stromme, P.2    van den Berghe, H.3
  • 6
    • 0029029527 scopus 로고
    • A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q22-q23
    • Amati P, Chomel J, Nivelon. A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q22-q23. Hum Genet, 1995,96:213-215.
    • (1995) Hum Genet , vol.96 , pp. 213-215
    • Amati, P.1    Chomel, J.2    Nivelon3
  • 7
    • 0028926103 scopus 로고
    • Blepharophimosis syndrome is linked to chromosome 3q
    • Small KW, Stalvey M, Fisher L. Blepharophimosis syndrome is linked to chromosome 3q. Hum Mol Genet, 1995, 4:443-448.
    • (1995) Hum Mol Genet , vol.4 , pp. 443-448
    • Small, K.W.1    Stalvey, M.2    Fisher, L.3
  • 8
    • 0029091076 scopus 로고
    • Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24
    • Harrar Y, Jeffery S, Patton M. Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24. J Med Genet, 1995,32:774-777.
    • (1995) J Med Genet , vol.32 , pp. 774-777
    • Harrar, Y.1    Jeffery, S.2    Patton, M.3
  • 9
    • 0029850981 scopus 로고    scopus 로고
    • Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p
    • Maw M, Kar B, Biswas J, et al. Linkage of blepharophimosis syndrome in a large Indian pedigree to chromosome 7p. Hum Mol Genet, 1996,5:2049-2054.
    • (1996) Hum Mol Genet , vol.5 , pp. 2049-2054
    • Maw, M.1    Kar, B.2    Biswas, J.3
  • 10
    • 0028912894 scopus 로고
    • Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay
    • Warburg M, Bugge M, Brondum-Nielsen K. Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay. J Med Genet, 1995,32:19-24.
    • (1995) J Med Genet , vol.32 , pp. 19-24
    • Warburg, M.1    Bugge, M.2    Brondum-Nielsen, K.3
  • 11
    • 0035878536 scopus 로고    scopus 로고
    • Spectrum of FOXL2 gene mutations in Blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
    • De Baere E, Dixon MJ, Small KW, et al. Spectrum of FOXL2 gene mutations in Blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation. Hum Mol Genet, 2001,10:1591-1600.
    • (2001) Hum Mol Genet , vol.10 , pp. 1591-1600
    • De Baere, E.1    Dixon, M.J.2    Small, K.W.3
  • 12
    • 0036913692 scopus 로고    scopus 로고
    • Evolution and expression of FOXL2
    • Cocquet J, Pailhoux E, Jaubert F, et al. Evolution and expression of FOXL2. J Med Genet, 2002,39:916-921.
    • (2002) J Med Genet , vol.39 , pp. 916-921
    • Cocquet, J.1    Pailhoux, E.2    Jaubert, F.3
  • 13
    • 0346058365 scopus 로고    scopus 로고
    • Structure, evolution and expression of FOXL2 transcription unit
    • Cocquet J, De Baere E, Gareil M, et al. Structure, evolution and expression of FOXL2 transcription unit. Cytogenet Genome Res, 2003,101:206-211.
    • (2003) Cytogenet Genome Res , vol.101 , pp. 206-211
    • Cocquet, J.1    De Baere, E.2    Gareil, M.3
  • 14
    • 0038649161 scopus 로고    scopus 로고
    • Etiology of ovarian failure in blepharophimosis ptosis epicanthus inversus syndrome: FOXL2 is a conserved, early-acting gene in vertebrate ovarian development
    • Loffler KA, Zarkower D, Koopman P. Etiology of ovarian failure in blepharophimosis ptosis epicanthus inversus syndrome: FOXL2 is a conserved, early-acting gene in vertebrate ovarian development. Endocrinology, 2003,144:3237-3243.
    • (2003) Endocrinology , vol.144 , pp. 3237-3243
    • Loffler, K.A.1    Zarkower, D.2    Koopman, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.