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Volumn 53, Issue 10, 2007, Pages 1767-1774

Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 2; FIBROBLAST GROWTH FACTOR RECEPTOR 3;

EID: 34848918888     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1373/clinchem.2007.089292     Document Type: Article
Times cited : (16)

References (22)
  • 1
    • 23044449961 scopus 로고    scopus 로고
    • Editorial: Perspectives on craniosynostosis
    • Cohen MM Jr. Editorial: perspectives on craniosynostosis. Am J Med Genet A 2005;136:313-26.
    • (2005) Am J Med Genet A , vol.136 , pp. 313-326
    • Cohen Jr., M.M.1
  • 2
    • 0029798614 scopus 로고    scopus 로고
    • Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
    • Bellus GA, Gaudenz K, Zackai EH, Clarke LA, Szabo J, Francomano CA, et al. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet 1996;14:174-6.
    • (1996) Nat Genet , vol.14 , pp. 174-176
    • Bellus, G.A.1    Gaudenz, K.2    Zackai, E.H.3    Clarke, L.A.4    Szabo, J.5    Francomano, C.A.6
  • 3
    • 18144381751 scopus 로고    scopus 로고
    • FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis
    • Thomas GP, Wilkie AO, Richards PG, Wall SA. FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis. J Craniofac Surg 2005;16:347-52.
    • (2005) J Craniofac Surg , vol.16 , pp. 347-352
    • Thomas, G.P.1    Wilkie, A.O.2    Richards, P.G.3    Wall, S.A.4
  • 4
    • 16944367030 scopus 로고    scopus 로고
    • A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome
    • Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, et al. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 1997;60:555-64.
    • (1997) Am J Hum Genet , vol.60 , pp. 555-564
    • Muenke, M.1    Gripp, K.W.2    McDonald-McGinn, D.M.3    Gaudenz, K.4    Whitaker, L.A.5    Bartlett, S.P.6
  • 5
    • 0042377396 scopus 로고    scopus 로고
    • Screening of patients with craniosynostosis: Molecular strategy
    • Chun K, Teebi AS, Azimi C, Steele L, Ray PN. Screening of patients with craniosynostosis: molecular strategy. Am J Med Genet A 2003;120:470-3.
    • (2003) Am J Med Genet A , vol.120 , pp. 470-473
    • Chun, K.1    Teebi, A.S.2    Azimi, C.3    Steele, L.4    Ray, P.N.5
  • 6
    • 18244368758 scopus 로고    scopus 로고
    • Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis
    • Kan SH, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, et al. Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet 2002;70:472-86.
    • (2002) Am J Hum Genet , vol.70 , pp. 472-486
    • Kan, S.H.1    Elanko, N.2    Johnson, D.3    Cornejo-Roldan, L.4    Cook, J.5    Reich, E.W.6
  • 7
    • 4544366844 scopus 로고    scopus 로고
    • Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis
    • Su YN, Lee CN, Chien SC, Hung CC, Chien YH, Chen CA. Rapid detection of FGFR3 gene mutation in achondroplasia by DHPLC system-coupling heteroduplex and fluorescence-enhanced primer-extension analysis. J Hum Genet 2004;49:399-403.
    • (2004) J Hum Genet , vol.49 , pp. 399-403
    • Su, Y.N.1    Lee, C.N.2    Chien, S.C.3    Hung, C.C.4    Chien, Y.H.5    Chen, C.A.6
  • 9
    • 0028113931 scopus 로고
    • Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2
    • Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, et al. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet 1994;8:275-9.
    • (1994) Nat Genet , vol.8 , pp. 275-279
    • Jabs, E.W.1    Li, X.2    Scott, A.F.3    Meyers, G.4    Chen, W.5    Eccles, M.6
  • 10
    • 0031021336 scopus 로고    scopus 로고
    • Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome
    • Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, Ortiz de Luna RI, et al. Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nat Genet 1997;15:36-41.
    • (1997) Nat Genet , vol.15 , pp. 36-41
    • Howard, T.D.1    Paznekas, W.A.2    Green, E.D.3    Chiang, L.C.4    Ma, N.5    Ortiz de Luna, R.I.6
  • 12
    • 0031029961 scopus 로고    scopus 로고
    • Rapid determination of single base mismatch mutations in DNA hybrids by direct electric field control
    • Sosnowski RG, Tu E, Butler WF, O'Connell JP, Heller MJ. Rapid determination of single base mismatch mutations in DNA hybrids by direct electric field control. Proc Natl Acad Sci U S A 1997;94:1119-23.
    • (1997) Proc Natl Acad Sci U S A , vol.94 , pp. 1119-1123
    • Sosnowski, R.G.1    Tu, E.2    Butler, W.F.3    O'Connell, J.P.4    Heller, M.J.5
  • 13
    • 0032892409 scopus 로고    scopus 로고
    • Single nucleotide polymorphic discrimination by an electronic dot blot assay on semiconductor microchips
    • Gilles PN, Wu DJ, Foster CB, Dillon PJ, Chanock SJ. Single nucleotide polymorphic discrimination by an electronic dot blot assay on semiconductor microchips. Nat Biotechnol 1999;17:365-70.
    • (1999) Nat Biotechnol , vol.17 , pp. 365-370
    • Gilles, P.N.1    Wu, D.J.2    Foster, C.B.3    Dillon, P.J.4    Chanock, S.J.5
  • 14
    • 0033621575 scopus 로고    scopus 로고
    • Active microeletronic chip devices which utilize controlled electrophoretic fields for multiplex DNA hybridization and other genomic applications
    • Heller MJ, Forster AH, Tu E. Active microeletronic chip devices which utilize controlled electrophoretic fields for multiplex DNA hybridization and other genomic applications. Electrophoresis 2000;21:157-64.
    • (2000) Electrophoresis , vol.21 , pp. 157-164
    • Heller, M.J.1    Forster, A.H.2    Tu, E.3
  • 15
    • 0036892135 scopus 로고    scopus 로고
    • Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology
    • Santacroce R, Ratti A, Caroli F, Foglieni B, Ferraris A, Cremonesi L, et al. Analysis of clinically relevant single-nucleotide polymorphisms by use of microelectronic array technology. Clin Chem 2002;48:2124-30.
    • (2002) Clin Chem , vol.48 , pp. 2124-2130
    • Santacroce, R.1    Ratti, A.2    Caroli, F.3    Foglieni, B.4    Ferraris, A.5    Cremonesi, L.6
  • 17
    • 1642492777 scopus 로고    scopus 로고
    • Beta-thalassemia microelectronic chip: A fast and accurate method for mutation detection
    • Foglieni B, Cremonesi L, Travi M, Ravani A, Giambona A, Rosatelli MC, et al. Beta-thalassemia microelectronic chip: a fast and accurate method for mutation detection. Clin Chem 2004;50:73-9.
    • (2004) Clin Chem , vol.50 , pp. 73-79
    • Foglieni, B.1    Cremonesi, L.2    Travi, M.3    Ravani, A.4    Giambona, A.5    Rosatelli, M.C.6
  • 19
    • 29644443643 scopus 로고    scopus 로고
    • Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: Functional differentiation from Muenke coronal synostosis syndrome
    • Kress W, Schropp C, Lieb G, Petersen B, Busse-Ratzka M, Kunz J, et al. Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. Eur J Hum Genet 2006;14:39-48.
    • (2006) Eur J Hum Genet , vol.14 , pp. 39-48
    • Kress, W.1    Schropp, C.2    Lieb, G.3    Petersen, B.4    Busse-Ratzka, M.5    Kunz, J.6
  • 20
    • 0037322640 scopus 로고    scopus 로고
    • Development of a universal probe for electronic microarray and its application in characterization of the Staphylococcus aureus polC gene
    • Cooper KL, Goering RV. Development of a universal probe for electronic microarray and its application in characterization of the Staphylococcus aureus polC gene. J Mol Diagn 2003;5:28-33.
    • (2003) J Mol Diagn , vol.5 , pp. 28-33
    • Cooper, K.L.1    Goering, R.V.2
  • 21
    • 32544459576 scopus 로고    scopus 로고
    • Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism
    • Ferrari F, Foglieni B, Arosio P, Camaschella C, Daraio F, Levi S, et al. Microelectronic DNA chip for hereditary hyperferritinemia cataract syndrome, a model for large-scale analysis of disorders of iron metabolism. Hum Mutat 2006;27:201-8.
    • (2006) Hum Mutat , vol.27 , pp. 201-208
    • Ferrari, F.1    Foglieni, B.2    Arosio, P.3    Camaschella, C.4    Daraio, F.5    Levi, S.6
  • 22
    • 2642559725 scopus 로고    scopus 로고
    • An improved electronic microarray-based diagnostic assay for identification of MEFV mutations
    • Moutereau S, Narwa R, Matheron C, Vongmany N, Simon E, Goossens M. An improved electronic microarray-based diagnostic assay for identification of MEFV mutations. Hum Mutat 2004;23:621-8.
    • (2004) Hum Mutat , vol.23 , pp. 621-628
    • Moutereau, S.1    Narwa, R.2    Matheron, C.3    Vongmany, N.4    Simon, E.5    Goossens, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.