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Clinical Genetics
Volumn 83, Issue 5, 2013, Pages 482-484
SOX2 anophthalmia syndrome in adulthood - a neurodegenerative picture?
Author keywords

[No Author keywords available]
Indexed keywords

TRANSCRIPTION FACTOR SOX2; VALPROIC ACID;
EID: 84875902108     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2012.01922.x     Document Type: Letter
Times cited : (6)
References (6)
  • 1
    • 35148812787 scopus 로고    scopus 로고
    • SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions
    • Bakrania P, Robinson DO, Bunyan DJ et al. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol 2007: 91: 1471-1476.
    • (2007) Br J Ophthalmol , vol.91 , pp. 1471-1476
    • Bakrania, P.1    Robinson, D.O.2    Bunyan, D.J.3
  • 2
    • 43249119819 scopus 로고    scopus 로고
    • SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development
    • Kelberman D, de Castro SC, Huang S et al. SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. J Clin Endocrinol Metab 2008: 93: 1865-1873.
    • (2008) J Clin Endocrinol Metab , vol.93 , pp. 1865-1873
    • Kelberman, D.1    de Castro, S.C.2    Huang, S.3
  • 3
    • 70350354987 scopus 로고    scopus 로고
    • Novel SOX2 partner-factor domain mutation in a four-generation family
    • Mihelec M, Abraham P, Gibson K et al. Novel SOX2 partner-factor domain mutation in a four-generation family. Eur J Hum Genet 2009: 17: 1417-1422.
    • (2009) Eur J Hum Genet , vol.17 , pp. 1417-1422
    • Mihelec, M.1    Abraham, P.2    Gibson, K.3
  • 4
    • 4444378766 scopus 로고    scopus 로고
    • Sox2 deficiency causes neurodegeneration and impaired neurogenesis in the adult mouse brain
    • Ferri AL, Cavallaro M, Braida D et al. Sox2 deficiency causes neurodegeneration and impaired neurogenesis in the adult mouse brain. Development 2004: 131: 3805-3819.
    • (2004) Development , vol.131 , pp. 3805-3819
    • Ferri, A.L.1    Cavallaro, M.2    Braida, D.3
  • 5
    • 84855213850 scopus 로고    scopus 로고
    • A novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits
    • Furuta N, Ikeda M, Hirayanagi K et al. A novel GJA1 mutation in oculodentodigital dysplasia with progressive spastic paraplegia and sensory deficits. Intern Med 2012: 51: 93-98.
    • (2012) Intern Med , vol.51 , pp. 93-98
    • Furuta, N.1    Ikeda, M.2    Hirayanagi, K.3
  • 6
    • 0242353154 scopus 로고    scopus 로고
    • Vertebrate neurogenesis is counteracted by Sox1-3 activity
    • Bylund M, Andersson E, Novitch BG et al. Vertebrate neurogenesis is counteracted by Sox1-3 activity. Nat Neurosci 2003: 6: 1162-1168.
    • (2003) Nat Neurosci , vol.6 , pp. 1162-1168
    • Bylund, M.1    Andersson, E.2    Novitch, B.G.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.