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Volumn 120 A, Issue 4, 2003, Pages 470-473

Screening of patients with craniosynostosis: Molecular strategy

Author keywords

FGFR; Mutations; TWIST

Indexed keywords

FIBROBLAST GROWTH FACTOR 2; FIBROBLAST GROWTH FACTOR 3; FIBROBLAST GROWTH FACTOR RECEPTOR 1; PROTEIN; TRANSCRIPTION FACTOR TWIST; UNCLASSIFIED DRUG;

EID: 0042377396     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20258     Document Type: Article
Times cited : (26)

References (23)
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    • Bellus, G.A.1    Gaudenz, K.2    Zackai, E.H.3    Clarke, L.A.4    Szabo, J.5    Francomano, C.A.6    Muenke, M.7
  • 5
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    • Common regulation of growth arrest and differentiation of osteoblasts by helix-loop-helix factors
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    • Funato, N.1    Ohtani, K.2    Ohyama, K.3    Kuroda, T.4    Nakamura, M.5
  • 8
    • 0033870788 scopus 로고    scopus 로고
    • A novel mutation, Ala315Ser, in FGFR2: A gene-environment interaction leading to craniosynostosis?
    • Johnson D, Wall SA, Mann S, Wilkie AOM. 2000. A novel mutation, Ala315Ser, in FGFR2: A gene-environment interaction leading to craniosynostosis? Eur J Hum Genet 8:571-577.
    • (2000) Eur J Hum Genet , vol.8 , pp. 571-577
    • Johnson, D.1    Wall, S.A.2    Mann, S.3    Wilkie, A.O.M.4
  • 13
    • 0029004086 scopus 로고
    • Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability
    • Park WJ, Meyers GA, Li X, Theda C, Day D, Orlow SJ, Jones MC, Jabs EW. 1995a. Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability. Hum Mol Genet 4:1229-1233.
    • (1995) Hum Mol Genet , vol.4 , pp. 1229-1233
    • Park, W.J.1    Meyers, G.A.2    Li, X.3    Theda, C.4    Day, D.5    Orlow, S.J.6    Jones, M.C.7    Jabs, E.W.8
  • 21
    • 0029957404 scopus 로고    scopus 로고
    • FGFR2 mutation in clinically non-classifiable autosomal dominant craniosynostosis with pronounced phenotypic variation
    • Steinberger D, Reinhartz T, Unsold R, Muller U. 1996. FGFR2 mutation in clinically non-classifiable autosomal dominant craniosynostosis with pronounced phenotypic variation. Am J Med Genet 66:81-86.
    • (1996) Am J Med Genet , vol.66 , pp. 81-86
    • Steinberger, D.1    Reinhartz, T.2    Unsold, R.3    Muller, U.4
  • 22
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    • Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2
    • Teebi AS, Kennedy S, Chun K, Ray PN. 2002. Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2. Am J Med Genet 107:43-47.
    • (2002) Am J Med Genet , vol.107 , pp. 43-47
    • Teebi, A.S.1    Kennedy, S.2    Chun, K.3    Ray, P.N.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.