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Clinical Dysmorphology
Volumn 14, Issue 1, 2005, Pages 35-36
Index finger abnormalities in Simpson-Golabi-Behmel syndrome
Author keywords

Digital abnormalities; Index finger hypoplasia; Simpson Golabi Behmel syndrome
Indexed keywords

GLYPICAN;
EID: 13244255683     PISSN: 09628827     EISSN: None     Source Type: Journal    
DOI: 10.1097/00019605-200501000-00008     Document Type: Review
Times cited : (7)
References (9)
  • 1
    • 0021136118 scopus 로고
    • A new X-linked dysplasia gigantism syndrome: Identical with the Simpson dysplasia syndrome?
    • Behmel A, Plochl E, Rosenkranz W (1984). A new X-linked dysplasia gigantism syndrome: Identical with the Simpson dysplasia syndrome? Hum Genet 76:409-413.
    • (1984) Hum Genet , vol.76 , pp. 409-413
    • Behmel, A.1    Plochl, E.2    Rosenkranz, W.3
  • 2
    • 0030660180 scopus 로고    scopus 로고
    • Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes
    • Eggenschwiler J, Ludwig T, Fisher P, Leighton PA, Tilghman SM, Efstratiadis A (1997). Mouse mutant embryos overexpressing IGF-II exhibit phenotypic features of the Beckwith-Wiedemann and Simpson-Golabi-Behmel syndromes. Genes Dev 11:3128-3142.
    • (1997) Genes Dev , vol.11 , pp. 3128-3142
    • Eggenschwiler, J.1    Ludwig, T.2    Fisher, P.3    Leighton, P.A.4    Tilghman, S.M.5    Efstratiadis, A.6
  • 3
    • 0021329881 scopus 로고
    • A new X-linked mental retardation-overgrowth syndrome
    • Golabi M, Rosen L (1984). A new X-linked mental retardation-overgrowth syndrome. Am J Med Genet 17:345-358.
    • (1984) Am J Med Genet , vol.17 , pp. 345-358
    • Golabi, M.1    Rosen, L.2
  • 4
    • 0026651112 scopus 로고
    • Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumour: Localisation of the gene to Xqcen-q21
    • Hughes-Benzie RM, Hunter AGW, Allanson JE, Mackenzie AE (1992). Simpson-Golabi-Behmel syndrome associated with renal dysplasia and embryonal tumour: Localisation of the gene to Xqcen-q21. Am J Med Genet 43:428-435.
    • (1992) Am J Med Genet , vol.43 , pp. 428-435
    • Hughes-Benzie, R.M.1    Hunter, A.G.W.2    Allanson, J.E.3    Mackenzie, A.E.4
  • 5
    • 2742565105 scopus 로고    scopus 로고
    • Simpson-Golabi-Behmel syndrome: Genotype/phenotype analysis of 18 affected males from 7 unrelated families
    • Hughes-Benzie RM, Pilia G, Xuan JY, Hunter AGW, Chen E, Golabi M, et al. (1996). Simpson-Golabi-Behmel syndrome: Genotype/phenotype analysis of 18 affected males from 7 unrelated families. Am J Med Genet 66:227-234.
    • (1996) Am J Med Genet , vol.66 , pp. 227-234
    • Hughes-Benzie, R.M.1    Pilia, G.2    Xuan, J.Y.3    Hunter, A.G.W.4    Chen, E.5    Golabi, M.6
  • 6
    • 0035425730 scopus 로고    scopus 로고
    • GPC3 mutational analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome
    • Li M, Shuman C, Fei YL, Cutiongco E, Bender HA, Stevens C, et al. (2001). GPC3 mutational analysis in a spectrum of patients with overgrowth expands the phenotype of Simpson-Golabi-Behmel syndrome. Am J Med Genet 102:161-168.
    • (2001) Am J Med Genet , vol.102 , pp. 161-168
    • Li, M.1    Shuman, C.2    Fei, Y.L.3    Cutiongco, E.4    Bender, H.A.5    Stevens, C.6
  • 7
    • 0032475859 scopus 로고    scopus 로고
    • Clinical and Molecular aspects of the Simpson-Golabi-Behmel syndrome
    • Neri G, Gurrieri F, Zanni G, Lin A (1998). Clinical and Molecular aspects of the Simpson-Golabi-Behmel syndrome. Am J Med Genet 79:279-283.
    • (1998) Am J Med Genet , vol.79 , pp. 279-283
    • Neri, G.1    Gurrieri, F.2    Zanni, G.3    Lin, A.4
  • 8
    • 0034284766 scopus 로고    scopus 로고
    • Glypican-3 controls cellular responses to Bmp4 in limb patterning and skeletal development
    • Paine-Saunders S, Viviano BL, Zupicich J, Skarnes WC, Saunders S (2000). Glypican-3 controls cellular responses to Bmp4 in limb patterning and skeletal development. Dev Biol 225:179-187.
    • (2000) Dev Biol , vol.225 , pp. 179-187
    • Paine-Saunders, S.1    Viviano, B.L.2    Zupicich, J.3    Skarnes, W.C.4    Saunders, S.5
  • 9
    • 0016812637 scopus 로고
    • A previously unrecognised X-linked syndrome of dysmorphia
    • Simpson JL, Landey S, New M, German J (1975). A previously unrecognised X-linked syndrome of dysmorphia. Birth Defects 11:18-24.
    • (1975) Birth Defects , vol.11 , pp. 18-24
    • Simpson, J.L.1    Landey, S.2    New, M.3    German, J.4

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.