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Volumn 101, Issue 2, 1998, Pages 307-311

Mutation of the fibroblast growth factor receptor 2 gene in Japanese patients with Apert syndrome

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR;

EID: 0031907125     PISSN: 00321052     EISSN: None     Source Type: Journal    
DOI: 10.1097/00006534-199802000-00007     Document Type: Article
Times cited : (16)

References (15)
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    • Park, W.J.1    Theda, C.2    Maestri, N.E.3
  • 3
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    • Apert's syndrome (acrocephalosyndactyly) in a patient with hyperhidrosis
    • Cohn, M. S., and Mahon, M. J. Apert's syndrome (acrocephalosyndactyly) in a patient with hyperhidrosis. Cutis 52: 205, 1993.
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  • 5
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    • An autopsy case of typical acrocephalosyndactyly (Apert syndrome) with corpus callosum agenesis
    • in Japanese
    • Takahashi, A., Yagawa, K., Takayama, K., et al. An autopsy case of typical acrocephalosyndactyly (Apert syndrome) with corpus callosum agenesis. Jpn. J. Pediatr. 19: 1443, 1966 (in Japanese).
    • (1966) Jpn. J. Pediatr. , vol.19 , pp. 1443
    • Takahashi, A.1    Yagawa, K.2    Takayama, K.3
  • 6
    • 0018577709 scopus 로고
    • Craniostenosis and syndromes with craniosynostosis: Incidence, genetics, penetrance, variability, and new syndrome updating
    • Cohen, M. M., Jr. Craniostenosis and syndromes with craniosynostosis: Incidence, genetics, penetrance, variability, and new syndrome updating. Birth Defects 15: 13, 1979.
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  • 8
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    • Exclusive paternal origin of new mutations in Apert syndrome
    • Moloney, D. M., Slaney, S. F., Oldridge, M., et al. Exclusive paternal origin of new mutations in Apert syndrome. Nature Genet. 13: 48, 1996.
    • (1996) Nature Genet. , vol.13 , pp. 48
    • Moloney, D.M.1    Slaney, S.F.2    Oldridge, M.3
  • 9
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    • The ins and outs of fibroblast growth factors
    • Mason, I. J. The ins and outs of fibroblast growth factors. Cell 78: 547, 1994.
    • (1994) Cell , vol.78 , pp. 547
    • Mason, I.J.1
  • 10
    • 0028798546 scopus 로고
    • Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
    • Wilkie, A. O. M., Slaney, S. F., Oldridge, M., et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genet. 9: 165, 1995.
    • (1995) Nature Genet. , vol.9 , pp. 165
    • Wilkie, A.O.M.1    Slaney, S.F.2    Oldridge, M.3
  • 11
    • 0029671080 scopus 로고    scopus 로고
    • FGFR2 exon llla and lllc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: Evidence for missense changes, insertions, and a deletion due to alternative RNa splicing
    • Meyers, G. A., Day, D., Goldberg, R., et al. FGFR2 exon llla and lllc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: Evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. Am. J. Hum. Genet. 58: 491, 1996.
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 491
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  • 12
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    • Differential effect of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome
    • Slaney, S. F., Oldridge, M., Hurst, J. A., et al. Differential effect of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am. J. Hum. Genet. 58: 923, 1996.
    • (1996) Am. J. Hum. Genet. , vol.58 , pp. 923
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  • 15
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    • Mattei, M.-G., Moreau, A., Gesnel, M.-C., Houssaint, E., and Breathnach, R. Assignment by in situ hybridization of a fibroblast growth factor receptor gene to human chromosome band 10q26. Hum. Genet. 87: 84, 1991.
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.