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Volumn 48, Issue 2, 2012, Pages

Chromosome microarray in Australia: A guide for paediatricians

Author keywords

autistic disorder; chromosome disorder; congenital abnormality; genetic counselling; intellectual disability; microarray analysis

Indexed keywords

ARTICLE; AUSTRALIA; CHROMOSOME; CHROMOSOME REARRANGEMENT; COPY NUMBER VARIATION; COUNSELING; DIAGNOSTIC PROCEDURE; DIAGNOSTIC VALUE; FALSE POSITIVE RESULT; FRAGILE X SYNDROME; GENETIC ASSOCIATION; GENETIC DISORDER; KARYOTYPE; MICROARRAY ANALYSIS; PEDIATRICIAN; POINT MUTATION; PRACTICE GUIDELINE; PRIORITY JOURNAL; TURNAROUND TIME;

EID: 84856845510     PISSN: 10344810     EISSN: 14401754     Source Type: Journal    
DOI: 10.1111/j.1440-1754.2011.02081.x     Document Type: Article
Times cited : (20)

References (22)
  • 2
    • 77952032690 scopus 로고    scopus 로고
    • Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
    • Miller DT, Adam MP, Aradhya S, et al,. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am. J. Hum. Genet. 2010; 86: 749-64.
    • (2010) Am. J. Hum. Genet. , vol.86 , pp. 749-764
    • Miller, D.T.1    Adam, M.P.2    Aradhya, S.3
  • 3
    • 58149153113 scopus 로고    scopus 로고
    • Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies
    • Edelmann L, Hirschhorn K,. Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies. Ann. N. Y. Acad. Sci. 2009; 1151: 157-66.
    • (2009) Ann. N. Y. Acad. Sci. , vol.1151 , pp. 157-166
    • Edelmann, L.1    Hirschhorn, K.2
  • 4
    • 63449115513 scopus 로고    scopus 로고
    • Array CGH in patients with learning disability (mental retardation) and congenital anomalies: Updated systematic review and meta-analysis of 19 studies and 13 926 subjects
    • Shaw-Smith C, Higgins JP, Burton H, et al,. Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13 926 subjects. Genet. Med. 2009; 11: 139-46.
    • (2009) Genet. Med. , vol.11 , pp. 139-146
    • Shaw-Smith, C.1    Higgins, J.P.2    Burton, H.3
  • 5
    • 43149107473 scopus 로고    scopus 로고
    • Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability
    • DOI 10.1097/WCO.0b013e3282f82c2d, PII 0001905220080400000003
    • Moeschler JB,. Medical genetics diagnostic evaluation of the child with global developmental delay or intellectual disability. Curr. Opin. Neurol. 2008; 21: 117-22. (Pubitemid 351644150)
    • (2008) Current Opinion in Neurology , vol.21 , Issue.2 , pp. 117-122
    • Moeschler, J.B.1
  • 6
    • 55349141809 scopus 로고    scopus 로고
    • Array comparative genomic hybridisation in global developmental delay
    • Srour M, Rorem EA, Hall N, Shaffer LG,. Array comparative genomic hybridisation in global developmental delay. Am. J. Med. Genet. 2008; 147B: 1101-8.
    • (2008) Am. J. Med. Genet. , vol.147 B , pp. 1101-1108
    • Srour, M.1    Rorem, E.A.2    Hall, N.3    Shaffer, L.G.4
  • 7
    • 34249680839 scopus 로고    scopus 로고
    • Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay, and idiopathic mental retardation
    • DOI 10.1016/j.gde.2007.04.009, PII S0959437X07000743
    • Stankiewicz P, Beaudet AL,. Use of array CGH in the evaluation of dysmorphology, malformations, developmental delay and idiopathic mental retardation. Curr. Opin. Genet. Dev. 2007; 17: 182-92. (Pubitemid 46843553)
    • (2007) Current Opinion in Genetics and Development , vol.17 , Issue.3 , pp. 182-192
    • Stankiewicz, P.1    Beaudet, A.L.2
  • 8
    • 77951702768 scopus 로고    scopus 로고
    • Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis
    • Conlin LK, Thiel BD, Bonnemann CG, et al,. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum. Mol. Genet. 2010; 19: 1263-75.
    • (2010) Hum. Mol. Genet. , vol.19 , pp. 1263-1275
    • Conlin, L.K.1    Thiel, B.D.2    Bonnemann, C.G.3
  • 9
    • 78650895100 scopus 로고    scopus 로고
    • High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting
    • Lagerberg M, Nordenskjöld M, Schoumans J,. High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting. Clin. Genet. 2011; 79: 147-57.
    • (2011) Clin. Genet. , vol.79 , pp. 147-157
    • Lagerberg, M.1    Nordenskjöld, M.2    Schoumans, J.3
  • 11
    • 66849097992 scopus 로고    scopus 로고
    • Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: Exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1)
    • Grati FR, Lesperance MM, De Toffol S, et al,. Pure monosomy and pure trisomy of 13q21.2-31.1 consequent to a familial insertional translocation: exclusion of PCDH9 as the responsible gene for autosomal dominant auditory neuropathy (AUNA1). Am. J. Med. Genet. A 2009; 149A: 906-13.
    • (2009) Am. J. Med. Genet. A , vol.149 A , pp. 906-913
    • Grati, F.R.1    Lesperance, M.M.2    De Toffol, S.3
  • 12
    • 77249114260 scopus 로고    scopus 로고
    • Variability in gene expression underlies incomplete penetrance
    • Raj A, Rifkin SA, Andersen E, van Oudenaarden A,. Variability in gene expression underlies incomplete penetrance. Nature 2010; 463: 913-8.
    • (2010) Nature , vol.463 , pp. 913-918
    • Raj, A.1    Rifkin, S.A.2    Andersen, E.3    Van Oudenaarden, A.4
  • 13
    • 67650508062 scopus 로고    scopus 로고
    • New challenges for informed consent through whole genome array testing
    • Netzer C, Klein C, Johihase J, Kubisch C,. New challenges for informed consent through whole genome array testing. J. Med. Genet. 2009; 46: 495-6.
    • (2009) J. Med. Genet. , vol.46 , pp. 495-496
    • Netzer, C.1    Klein, C.2    Johihase, J.3    Kubisch, C.4
  • 14
    • 66249144689 scopus 로고    scopus 로고
    • Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: New challenges through whole-genome array testing
    • Schwarzbraun T, Langmann A, Gruber-Sedlmayr U, et al,. Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole-genome array testing. J. Med. Genet. 2009; 46: 341-4.
    • (2009) J. Med. Genet. , vol.46 , pp. 341-344
    • Schwarzbraun, T.1    Langmann, A.2    Gruber-Sedlmayr, U.3
  • 15
    • 78649326314 scopus 로고    scopus 로고
    • Clinical application of whole-genome array CGH during prenatal diagnosis: Study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations
    • Evangelidou P, Sismani C, Ioannides M, et al,. Clinical application of whole-genome array CGH during prenatal diagnosis: study of 25 selected pregnancies with abnormal ultrasound findings or apparently balanced structural aberrations. Mol. Cytogenet. 2010; 3: 24.
    • (2010) Mol. Cytogenet. , vol.3 , pp. 24
    • Evangelidou, P.1    Sismani, C.2    Ioannides, M.3
  • 17
    • 56749154242 scopus 로고    scopus 로고
    • Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
    • Brunetti-Pierri N, Berg JS, Scaglia F, et al,. Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat.Genet. 2008; 40: 1466-71.
    • (2008) Nat.Genet. , vol.40 , pp. 1466-1471
    • Brunetti-Pierri, N.1    Berg, J.S.2    Scaglia, F.3
  • 18
    • 38149038032 scopus 로고    scopus 로고
    • Pre- and postnatal genetic testing by array-comparative genomic hybridization: Genetic counseling perspectives
    • Darilek S, Ward P, Pursley A, et al,. Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives. Genet. Med. 2008; 10: 13-8.
    • (2008) Genet. Med. , vol.10 , pp. 13-18
    • Darilek, S.1    Ward, P.2    Pursley, A.3
  • 19
    • 73349110071 scopus 로고    scopus 로고
    • Exome sequencing identifies the cause of a Mendelian disorder
    • Ng SB, Buckingham KJ, Lee C, et al,. Exome sequencing identifies the cause of a Mendelian disorder. Nat. Genet. 2010; 42: 30-5.
    • (2010) Nat. Genet. , vol.42 , pp. 30-35
    • Ng, S.B.1    Buckingham, K.J.2    Lee, C.3
  • 20
    • 77952888699 scopus 로고    scopus 로고
    • De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
    • Hoischen A, van Bon BW, Gilissen C, et al,. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat. Genet. 2010; 42: 483-5.
    • (2010) Nat. Genet. , vol.42 , pp. 483-485
    • Hoischen, A.1    Van Bon, B.W.2    Gilissen, C.3
  • 21
    • 77950475726 scopus 로고    scopus 로고
    • Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
    • Lupski JR, Reid JG, Gonzaga-Jauregui C, et al,. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N. Engl. J. Med. 2010; 362: 1181-91.
    • (2010) N. Engl. J. Med. , vol.362 , pp. 1181-1191
    • Lupski, J.R.1    Reid, J.G.2    Gonzaga-Jauregui, C.3
  • 22
    • 73149123343 scopus 로고    scopus 로고
    • Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
    • Choi M, Scholl UI, Ji W,. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc. Natl. Acad. Sci. U. S. A. 2009; 106: 19096-101.
    • (2009) Proc. Natl. Acad. Sci. U. S. A. , vol.106 , pp. 19096-19101
    • Choi, M.1    Scholl, U.I.2    Ji, W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.