메뉴 건너뛰기




Volumn 11, Issue 6, 2009, Pages 562-568

A new chromosome X exon-specific microarray platform for screening of patients with X-linked disorders

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; B RAF KINASE 2; UNCLASSIFIED DRUG;

EID: 70350469238     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2009.090086     Document Type: Article
Times cited : (6)

References (28)
  • 3
    • 33646505092 scopus 로고    scopus 로고
    • X-linked mental retardation: Many genes for a complex disorder
    • Ropers H-H: X-linked mental retardation: many genes for a complex disorder. Curr Opin Genet Dev 2006, 16:260-269
    • (2006) Curr Opin Genet Dev , vol.16 , pp. 260-269
    • Ropers, H.-H.1
  • 4
    • 0035464960 scopus 로고    scopus 로고
    • Monogenic causes of x-linked mental retardation
    • DOI 10.1038/35088558
    • Chelly J, Mandel JL: Monogenic causes of X-linked mental retardation. Nat Rev Genet 2001, 2:669-680 (Pubitemid 33674789)
    • (2001) Nature Reviews Genetics , vol.2 , Issue.9 , pp. 669-680
    • Chelly, J.1    Mandel, J.-L.2
  • 5
    • 4644244222 scopus 로고    scopus 로고
    • Monogenic X-linked mental retardation: Is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations
    • Mandel JL, Chelly J: Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations. Eur J Hum Genet 2004, 12:689-693
    • (2004) Eur J Hum Genet , vol.12 , pp. 689-693
    • Mandel, J.L.1    Chelly, J.2
  • 6
    • 2942587162 scopus 로고    scopus 로고
    • X-linked mental retardation (XLMR): From clinical conditions to cloned genes
    • DOI 10.1080/10408360490443013
    • Chiurazzi P, Tabolacci E, Neri G: X-linked mental retardation (XLMR): from clinical conditions to cloned genes. Crit Rev Clin Lab Sci 2004, 41:117-158 (Pubitemid 38757163)
    • (2004) Critical Reviews in Clinical Laboratory Sciences , vol.41 , Issue.2 , pp. 117-158
    • Chiurazzi, P.1    Tabolacci, E.2    Neri, G.3
  • 9
    • 23944447954 scopus 로고    scopus 로고
    • X chromosome array-CGH for the identification of novel X-linked mental retardation genes
    • DOI 10.1016/j.ejmg.2005.04.008, PII S1769721205000881, Array-CGH
    • Bauters M, Van Esch H, Marynen P, Froyen G: X chromosome array- CGH for the identification of novel X-linked mental retardation genes. Eur J Med Genet 2005, 48:263-275 (Pubitemid 41354319)
    • (2005) European Journal of Medical Genetics , vol.48 , Issue.3 , pp. 263-275
    • Bauters, M.1    Van Esch, H.2    Marynen, P.3    Froyen, G.4
  • 14
    • 34948899272 scopus 로고    scopus 로고
    • Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: Important role for increased gene dosage of XLMR genes
    • DOI 10.1002/humu.20564
    • Froyen G, Van Esch H, Bauters M, Hollanders K, Frints SG, Vermeesch JR, Devriendt K, Fryns JP, Marynen P: Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes. Hum Mutat 2007, 28:1034-1042 (Pubitemid 47519397)
    • (2007) Human Mutation , vol.28 , Issue.10 , pp. 1034-1042
    • Froyen, G.1    Van Esch, H.2    Bauters, M.3    Hollanders, K.4    Frints, S.G.M.5    Vermeesch, J.R.6    Devriendt, K.7    Fryns, J.-P.8    Marynen, P.9
  • 17
    • 33748559840 scopus 로고    scopus 로고
    • The forgotten variables of DNA array hybridization
    • DOI 10.1016/j.tibtech.2006.07.006, PII S0167779906001855
    • Carletti E, Guerra E, Alberti S: The forgotten variables of DNA array hybridization. Trends Biotechnol 2006, 24:443-448 (Pubitemid 44374779)
    • (2006) Trends in Biotechnology , vol.24 , Issue.10 , pp. 443-448
    • Carletti, E.1    Guerra, E.2    Alberti, S.3
  • 24
    • 34147104969 scopus 로고    scopus 로고
    • A faster circular binary segmentation algorithm for the analysis of array CGH data
    • DOI 10.1093/bioinformatics/btl646
    • Venkatraman ES, Olshen AB: A faster circular binary segmentation algorithm for the analysis of array CGH data. Bioinformatics 2007, 15;23:657-663 (Pubitemid 46554715)
    • (2007) Bioinformatics , vol.23 , Issue.6 , pp. 657-663
    • Venkatraman, E.S.1    Olshen, A.B.2
  • 26
    • 34447309023 scopus 로고    scopus 로고
    • A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features
    • DOI 10.1016/j.ejmg.2007.05.001, PII S176972120700050X
    • Kirchhoff M, Bisgaard AM, Duno M, Hansen FJ, Schwartz M: A 17q21.31 microduplication, reciprocal to the newly described 17q21.31 microdeletion, in a girl with severe psychomotor developmental delay and dysmorphic craniofacial features. Eur J Med Genet 2007, 50:256-263 (Pubitemid 47058420)
    • (2007) European Journal of Medical Genetics , vol.50 , Issue.4 , pp. 256-263
    • Kirchhoff, M.1    Bisgaard, A.-M.2    Duno, M.3    Hansen, F.J.4    Schwartz, M.5
  • 27
    • 29444441336 scopus 로고    scopus 로고
    • A high-resolution survey of deletion polymorphism in the human genome
    • DOI 10.1038/ng1697
    • Conrad DF, Andrews TD, Carter NP, Hurles ME, Pritchard JK: A high-resolution survey of deletion polymorphism in the human genome. Nat Genet 2006, 38:75-81 (Pubitemid 43011885)
    • (2006) Nature Genetics , vol.38 , Issue.1 , pp. 75-81
    • Conrad, D.F.1    Andrews, T.D.2    Carter, N.P.3    Hurles, M.E.4    Pritchard, J.K.5
  • 28
    • 22244459202 scopus 로고    scopus 로고
    • On the probability that a novel variant is a disease-causing mutation
    • DOI 10.1101/gr.3761405
    • Mitchell AA, Chakravarti A, Cutler DJ: On the probability that a novel variant is a disease-causing mutation. Genome Res 2005, 15:960-966 (Pubitemid 40994216)
    • (2005) Genome Research , vol.15 , Issue.7 , pp. 960-966
    • Mitchell, A.A.1    Chakravarti, A.2    Cutler, D.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.