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Volumn 155, Issue 12, 2011, Pages 3132-3135

Genetic and clinical profiles of spondylocostal dysostosis patients in Taiwan

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

EID: 81955167395     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34301     Document Type: Letter
Times cited : (3)

References (15)
  • 2
    • 0042632613 scopus 로고    scopus 로고
    • A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village
    • Bonafe L, Giunta C, Gassner M, Steinmann B, Superti-Furga A. 2003. A cluster of autosomal recessive spondylocostal dysostosis caused by three newly identified DLL3 mutations segregating in a small village. Clin Genet 64: 28-35.
    • (2003) Clin Genet , vol.64 , pp. 28-35
    • Bonafe, L.1    Giunta, C.2    Gassner, M.3    Steinmann, B.4    Superti-Furga, A.5
  • 4
    • 85047699421 scopus 로고    scopus 로고
    • Vertebrate hairy and enhancer of split related proteins: Transcriptional repressors regulating cellular differentiation and embryonic patterning
    • Davis RL, Turner DL. 2001. Vertebrate hairy and enhancer of split related proteins: Transcriptional repressors regulating cellular differentiation and embryonic patterning. Oncogene 20: 8342-8357.
    • (2001) Oncogene , vol.20 , pp. 8342-8357
    • Davis, R.L.1    Turner, D.L.2
  • 5
    • 0035958586 scopus 로고    scopus 로고
    • FGF signaling controls somite boundary position and regulates segmentation clock control of spatiotemporal Hox gene activation
    • Dubrulle J, McGrew MJ, Pourquie O. 2011. FGF signaling controls somite boundary position and regulates segmentation clock control of spatiotemporal Hox gene activation. Cell 106: 219-232.
    • (2011) Cell , vol.106 , pp. 219-232
    • Dubrulle, J.1    McGrew, M.J.2    Pourquie, O.3
  • 8
    • 0031860576 scopus 로고    scopus 로고
    • Thylacine 1 is expressed segmentally within the paraxial mesoderm of the Xenopus embryo and interacts with the Notch pathway
    • Sparrow DB, Jen WC, Kotecha S, Towers N, Kintner C, Mohun TJ. 1998. Thylacine 1 is expressed segmentally within the paraxial mesoderm of the Xenopus embryo and interacts with the Notch pathway. Development 125: 2041-2051.
    • (1998) Development , vol.125 , pp. 2041-2051
    • Sparrow, D.B.1    Jen, W.C.2    Kotecha, S.3    Towers, N.4    Kintner, C.5    Mohun, T.J.6
  • 11
    • 56049123626 scopus 로고    scopus 로고
    • Mutation of hairy-and-enhancer-of-Split-7 in humans causes spondylocostal dysostosis
    • Sparrow DB, Guillen-Navarro E, Fatkin D, Dunwoodie SL. 2008. Mutation of hairy-and-enhancer-of-Split-7 in humans causes spondylocostal dysostosis. Hum Mol Genet 17: 3761-3766.
    • (2008) Hum Mol Genet , vol.17 , pp. 3761-3766
    • Sparrow, D.B.1    Guillen-Navarro, E.2    Fatkin, D.3    Dunwoodie, S.L.4
  • 13
    • 2442658701 scopus 로고    scopus 로고
    • DLL3 and spondylocostal dysostosis
    • Epstein CJ, Erickson RP, Wynshaw-Boris A, editors. New York: Oxford University Press.
    • Turnpenny PD, Kusumi K. 2003. DLL3 and spondylocostal dysostosis. In: Epstein CJ, Erickson RP, Wynshaw-Boris A, editors. Inborn errors of development. New York: Oxford University Press. pp 470-481.
    • (2003) Inborn errors of development , pp. 470-481
    • Turnpenny, P.D.1    Kusumi, K.2
  • 14
    • 0033920919 scopus 로고    scopus 로고
    • Notch signal transduction: A real rip and more
    • Weinmaster G. 2000. Notch signal transduction: A real rip and more. Curr Opin Genet Dev 10: 363-369.
    • (2000) Curr Opin Genet Dev , vol.10 , pp. 363-369
    • Weinmaster, G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.