메뉴 건너뛰기




Volumn 26, Issue 2, 2009, Pages 90-92

FGFR3 gene mutations in Chinese cases of thanatophoric dysplasia type1

Author keywords

FGFR3 gene; Molecular diagnosis; Thanatophoric dysplasia type 1

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 3;

EID: 70350751559     PISSN: 10153837     EISSN: None     Source Type: Journal    
DOI: 10.1159/000238120     Document Type: Article
Times cited : (3)

References (10)
  • 1
    • 58149231214 scopus 로고    scopus 로고
    • Brain and bone abnormalities of thanatophoric dwarfism
    • Miller E, Blaser S, Shannon P, Widjaja E: Brain and bone abnormalities of thanatophoric dwarfism. Am J Roentgenol 2009; 192: 48-51.
    • (2009) Am J Roentgenol , vol.192 , pp. 48-51
    • Miller, E.1    Blaser, S.2    Shannon, P.3    Widjaja, E.4
  • 2
    • 0034464005 scopus 로고    scopus 로고
    • The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: The achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans
    • Vajo Z, Francomano CA, Wilkin DJ: The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans. Endocr Rev 2000; 21: 23-39.
    • (2000) Endocr Rev , vol.21 , pp. 23-39
    • Vajo, Z.1    Francomano, C.A.2    Wilkin, D.J.3
  • 4
    • 49649095917 scopus 로고    scopus 로고
    • Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: A retrospective and prospective analysis
    • Krakow D, Alanay Y, Rimoin LP, Lin V, Wilcox WR, Lachman RS, et al: Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: a retrospective and prospective analysis. Am J Med Genet A 2008; 146A:1917-1924.
    • (2008) Am J Med Genet A , vol.146 A , pp. 1917-1924
    • Krakow, D.1    Alanay, Y.2    Rimoin, L.P.3    Lin, V.4    Wilcox, W.R.5    Lachman, R.S.6
  • 5
    • 0028046295 scopus 로고
    • Clinical-molecular correlations in the skeletal dysplasias
    • Rimoin DL, Cohn DH, Eyre D: Clinical-molecular correlations in the skeletal dysplasias. Pediatr Radiol 1994; 24: 425-426.
    • (1994) Pediatr Radiol , vol.24 , pp. 425-426
    • Rimoin, D.L.1    Cohn, D.H.2    Eyre, D.3
  • 7
    • 55149106566 scopus 로고    scopus 로고
    • Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis
    • Tsutsumi S, Sawai H, Nishimura G, Hayasaka K, Kurachi H: Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis. Fetal Diagn Ther 2008; 24: 420-424.
    • (2008) Fetal Diagn Ther , vol.24 , pp. 420-424
    • Tsutsumi, S.1    Sawai, H.2    Nishimura, G.3    Hayasaka, K.4    Kurachi, H.5
  • 8
    • 47549108111 scopus 로고    scopus 로고
    • A case of thanatopho ric dysplasia: The early prenatal 2D and 3D sonographic findings and molecular confirmation of diagnosis
    • Wong HS, Kidd A, Zuccollo J, Tuohy J, Strand L, Tait J, Pringle KC: A case of thanatopho ric dysplasia: the early prenatal 2D and 3D sonographic findings and molecular confirmation of diagnosis. Fetal Diagn Ther 2008; 24: 71-73.
    • (2008) Fetal Diagn Ther , vol.24 , pp. 71-73
    • Wong, H.S.1    Kidd, A.2    Zuccollo, J.3    Tuohy, J.4    Strand, L.5    Tait, J.6    Pringle, K.C.7
  • 9
    • 0035892809 scopus 로고    scopus 로고
    • Occurrence of thanatophoric dysplasia type i (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype
    • Camera G, Baldi M, Strisciuglio G, Concolino D, Mastroiacovo P, Baffico M: Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype. Am J Med Genet 2001; 104: 277-281.
    • (2001) Am J Med Genet , vol.104 , pp. 277-281
    • Camera, G.1    Baldi, M.2    Strisciuglio, G.3    Concolino, D.4    Mastroiacovo, P.5    Baffico, M.6
  • 10
    • 0030567966 scopus 로고    scopus 로고
    • Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene
    • Pokharel RK, Alimsardjono H, Takeshima Y, Nakamura H, Naritomi K, Hirose S, Onishi S, Matsuo M: Japanese cases of type 1 thanatophoric dysplasia exclusively carry a C to T transition at nucleotide 742 of the fibroblast growth factor receptor 3 gene. Biochem Biophys Res Commun 1996; 227: 236-239.
    • (1996) Biochem Biophys Res Commun , vol.227 , pp. 236-239
    • Pokharel, R.K.1    Alimsardjono, H.2    Takeshima, Y.3    Nakamura, H.4    Naritomi, K.5    Hirose, S.6    Onishi, S.7    Matsuo, M.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.