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Volumn 24, Issue 8, 2004, Pages 644-646

Prenatal diagnosis of Pfeiffer syndrome type II

Author keywords

Craniosynostosis; Pfeiffer syndrome; Prenatal diagnosis; Ultrasound

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 2;

EID: 4243050542     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.960     Document Type: Article
Times cited : (24)

References (10)
  • 1
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    • (1996) Nat Genet , vol.14 , pp. 174-176
    • Bellus, G.A.1    Gaudenz, K.2    Zackai, E.H.3
  • 2
    • 0034483541 scopus 로고    scopus 로고
    • Using three-dimensional ultrasound to detect craniosynostosis in a fetus with Pfeiffer syndrome
    • Benacerraf BR, Spiro R, Mitchell AG. 2000. Using three-dimensional ultrasound to detect craniosynostosis in a fetus with Pfeiffer syndrome. Ultrasound Obstet Gynecol 16: 391-394.
    • (2000) Ultrasound Obstet Gynecol , vol.16 , pp. 391-394
    • Benacerraf, B.R.1    Spiro, R.2    Mitchell, A.G.3
  • 3
    • 0027476349 scopus 로고
    • Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis
    • Cohen MM. 1993. Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. Am J Med Genet 45: 300-307.
    • (1993) Am J Med Genet , vol.45 , pp. 300-307
    • Cohen, M.M.1
  • 4
    • 0032992570 scopus 로고    scopus 로고
    • Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome
    • Cornejo-Roldan LR, Roessler E, Meunke M. 1999. Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. Hum Genet 104: 425-431.
    • (1999) Hum Genet , vol.104 , pp. 425-431
    • Cornejo-Roldan, L.R.1    Roessler, E.2    Meunke, M.3
  • 6
    • 0031024743 scopus 로고    scopus 로고
    • Mutation detection in FGFR2 craniosynostosis syndromes
    • Hollway GE, Suthers GK, Haan EA, et al. 1997. Mutation detection in FGFR2 craniosynostosis syndromes. Hum Genet 99: 251-255.
    • (1997) Hum Genet , vol.99 , pp. 251-255
    • Hollway, G.E.1    Suthers, G.K.2    Haan, E.A.3
  • 7
    • 0029132035 scopus 로고
    • Fibroblast growth factor receptor mutations in human skeletal disorders
    • Muenke M, Schell U. 1995. Fibroblast growth factor receptor mutations in human skeletal disorders. Trends Genet 11: 308-313.
    • (1995) Trends Genet , vol.11 , pp. 308-313
    • Muenke, M.1    Schell, U.2
  • 8
    • 0028046606 scopus 로고
    • A common mutation in the fibroblast growth factor receptor-1 gene in Pfeiffer syndrome
    • Muenke M, Schell U, Hehr A, et al. 1995. A common mutation in the fibroblast growth factor receptor-1 gene in Pfeiffer syndrome. Nat Genet 8: 269-274.
    • (1995) Nat Genet , vol.8 , pp. 269-274
    • Muenke, M.1    Schell, U.2    Hehr, A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.