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Volumn 146, Issue 17, 2008, Pages 2252-2257

Molecular study of 33 families with Fraser syndrome new data and mutation review

(40)  Van Haelst, M M a,b,e   Maiburg, M a   Baujat, G a   Jadeja, S a   Monti, E a   Bland, E a   Pearce, K a   Hennekam, R C a,c,d   Scambler, P J a   Al Gazali, Lihadt e   Aytes, Perez e   Bonato, Arianna e   Chitayat, David e   Dobbie, Angus e   Donnai, Dian e   Elmslie, Frances e   Ferreira, Jose e   Francannet, Christine e   Gilbert, Brigitte e   Graham, John e   more..


Author keywords

Cryptophtalmos; FRAS1 FREM2 mutations; Fraser syndrome; Genotype phenotype correlation

Indexed keywords

SCLEROPROTEIN;

EID: 51449090282     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32440     Document Type: Article
Times cited : (64)

References (17)
  • 1
    • 33846828781 scopus 로고    scopus 로고
    • Fraser and ablepharon macrostomia phenotypes: Concurrence in one family and association with mutated FRAS1
    • Cavalcanti DP, Matejas V, Luquetti D, Mello MF, Zenker M. 2007. Fraser and ablepharon macrostomia phenotypes: Concurrence in one family and association with mutated FRAS1. Am J Med Genet Part A 143A:241-247.
    • (2007) Am J Med Genet , vol.143 A , Issue.PART A , pp. 241-247
    • Cavalcanti, D.P.1    Matejas, V.2    Luquetti, D.3    Mello, M.F.4    Zenker, M.5
  • 3
    • 84981807786 scopus 로고
    • Our genetic 'load'. A review of some aspects of genetic variation
    • Fraser GR. 1962. Our genetic 'load'. A review of some aspects of genetic variation. Ann Hum Genet 25:387-415.
    • (1962) Ann Hum Genet , vol.25 , pp. 387-415
    • Fraser, G.R.1
  • 4
    • 0034213578 scopus 로고    scopus 로고
    • Cell-substrate interactions during sea urchin gastrulation: Migrating primary mesenchyme cells interact with and align extracellular matrix fibers that contain ECM3, a molecule with NG2-like and multiple calcium-binding domains
    • Hodor PG, Illies MR, Broadley S, Ettensohn CA. 2000. Cell-substrate interactions during sea urchin gastrulation: Migrating primary mesenchyme cells interact with and align extracellular matrix fibers that contain ECM3, a molecule with NG2-like and multiple calcium-binding domains. Dev Biol 222:181-194.
    • (2000) Dev Biol , vol.222 , pp. 181-194
    • Hodor, P.G.1    Illies, M.R.2    Broadley, S.3    Ettensohn, C.A.4
  • 8
    • 0036844229 scopus 로고    scopus 로고
    • Multiple hits during early embryonic development: Digenic diseases and holoprosencephaly
    • Ming JE, Muenke M. 2002. Multiple hits during early embryonic development: Digenic diseases and holoprosencephaly. Am J Hum Genet 71:1017-1032.
    • (2002) Am J Hum Genet , vol.71 , pp. 1017-1032
    • Ming, J.E.1    Muenke, M.2
  • 9
    • 34547781263 scopus 로고    scopus 로고
    • Intrafamilial variability in Fraser syndrome
    • Prasun P, Pradhan M, Goel H. 2007. Intrafamilial variability in Fraser syndrome. Prenat Diagn 27:778-782.
    • (2007) Prenat Diagn , vol.27 , pp. 778-782
    • Prasun, P.1    Pradhan, M.2    Goel, H.3
  • 10
    • 38849096515 scopus 로고    scopus 로고
    • Fraser syndrome due to homozygosity for a splice site mutation of FREM2
    • Shafeghati Y, Kniepert A, Vakili G, Zenker M. 2008. Fraser syndrome due to homozygosity for a splice site mutation of FREM2. Am J Med Genet Part A 146A:529-531.
    • (2008) Am J Med Genet , vol.146 A , Issue.PART A , pp. 529-531
    • Shafeghati, Y.1    Kniepert, A.2    Vakili, G.3    Zenker, M.4
  • 11
    • 33748582926 scopus 로고    scopus 로고
    • Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome
    • Slavotinek A, Li C, Sherr EH, Chudley AE. 2006. Mutation analysis of the FRAS1 gene demonstrates new mutations in a propositus with Fraser syndrome. Am J Med Genet Part A 140A:1909-1914.
    • (2006) Am J Med Genet , vol.140 A , Issue.PART A , pp. 1909-1914
    • Slavotinek, A.1    Li, C.2    Sherr, E.H.3    Chudley, A.E.4
  • 12
    • 27744516069 scopus 로고    scopus 로고
    • The genetics of Fraser syndrome and the blebs mouse mutants
    • Smyth I, Scambler P. 2005. The genetics of Fraser syndrome and the blebs mouse mutants. Hum Mol Genet 14:269-274.
    • (2005) Hum Mol Genet , vol.14 , pp. 269-274
    • Smyth, I.1    Scambler, P.2
  • 13
    • 85174978003 scopus 로고    scopus 로고
    • Smyth I, Scambler P. 2007. The genetics of Fraser syndrome and the blebs mouse mutants. In: Fifty years of human genetics: A festschrift and liber amicorum to celebrate the work and life of George Robert Fraser. Mayo O, Leach C. p 170-177.
    • Smyth I, Scambler P. 2007. The genetics of Fraser syndrome and the blebs mouse mutants. In: Fifty years of human genetics: A festschrift and liber amicorum to celebrate the work and life of George Robert Fraser. Mayo O, Leach C. p 170-177.
  • 15
    • 85174977880 scopus 로고    scopus 로고
    • van Haelst MM, Scambler PJ, Fraser Syndrome Collaboration Group, Hennekam RCM. 2007. Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria. Am J Med Genet Part A 143A:3194-3203.
    • van Haelst MM, Scambler PJ, Fraser Syndrome Collaboration Group, Hennekam RCM. 2007. Fraser syndrome: A clinical study of 59 cases and evaluation of diagnostic criteria. Am J Med Genet Part A 143A:3194-3203.
  • 17
    • 0025309267 scopus 로고
    • Fraser syndrome andmouse 'bleb' mutants
    • Winter RM. 1990. Fraser syndrome andmouse 'bleb' mutants. Clin Genet 37:494-495.
    • (1990) Clin Genet , vol.37 , pp. 494-495
    • Winter, R.M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.