메뉴 건너뛰기




Volumn 46, Issue 1, 2007, Pages 61-63

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN FOXL2; UNCLASSIFIED DRUG;

EID: 33845977035     PISSN: 00119059     EISSN: 13654632     Source Type: Journal    
DOI: 10.1111/j.1365-4632.2007.03066.x     Document Type: Article
Times cited : (9)

References (15)
  • 2
    • 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; 36: 1020-1027.
    • (1983) Am J Hum Genet , vol.36 , pp. 1020-1027
    • Zlotogora, J.1    Sagi, M.2    Cohen, T.3
  • 3
    • 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
  • 4
    • 0030731451 scopus 로고    scopus 로고
    • Endometrial carcinoma in a patient with blepharophimosis syndrome and menstrual abnormality
    • Matsuoka Y, Shibuya Y. Endometrial carcinoma in a patient with blepharophimosis syndrome and menstrual abnormality. Am J Ophthalmol 1997; 124: 855-856.
    • (1997) Am J Ophthalmol , vol.124 , pp. 855-856
    • Matsuoka, Y.1    Shibuya, Y.2
  • 5
    • 0024412008 scopus 로고
    • Blepharophimosis plus ovarian failure: A likely candidate for a contiguous gene syndrome
    • Smith A, Fraser IS, Shearman RP, et al. Blepharophimosis plus ovarian failure: A likely candidate for a contiguous gene syndrome. J Med Genet 1989; 26: 434-438.
    • (1989) J Med Genet , vol.26 , pp. 434-438
    • Smith, A.1    Fraser, I.S.2    Shearman, R.P.3
  • 6
    • 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
  • 7
    • 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. 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
  • 8
    • 17344379513 scopus 로고    scopus 로고
    • Five years on the wings of fork head
    • Kaufmann E, Knochel W. Five years on the wings of fork head. Mech Dev 1996; 57: 3-20.
    • (1996) Mech Dev , vol.57 , pp. 3-20
    • Kaufmann, E.1    Knochel, W.2
  • 9
    • 0035136679 scopus 로고    scopus 로고
    • A fork in the road to fertility
    • Prueitt RL, Zinn AR. A fork in the road to fertility. Nat Genet 2001; 27: 132-134.
    • (2001) Nat Genet , vol.27 , pp. 132-134
    • Prueitt, R.L.1    Zinn, A.R.2
  • 10
    • 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
  • 11
    • 0035878536 scopus 로고    scopus 로고
    • Spectrum of FOXL2 gene mutation 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 mutation 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
  • 13
    • 0033396601 scopus 로고    scopus 로고
    • Blepharophimosis-ptosis-epicanthus inversus syndrome and infertility
    • Morales M, Chardonnens D, Bottani A, et al. Blepharophimosis-ptosis-epicanthus inversus syndrome and infertility. J Gynecol Obstet Biol Reprod 1999; 28: 833-837.
    • (1999) J Gynecol Obstet Biol Reprod , vol.28 , pp. 833-837
    • Morales, M.1    Chardonnens, D.2    Bottani, A.3
  • 14
    • 0035260382 scopus 로고    scopus 로고
    • Cutaneous peculiarities in blepharophimosis-ptosis-epicanthus inversus syndrome: Report of a case
    • Mohrenschlager M, Wessner DB, Abeek D, et al. Cutaneous peculiarities in blepharophimosis-ptosis-epicanthus inversus syndrome: Report of a case. J AAPOS 2001; 5: 58-59.
    • (2001) J AAPOS , vol.5 , pp. 58-59
    • Mohrenschlager, M.1    Wessner, D.B.2    Abeek, D.3
  • 15
    • 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


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.