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Volumn 16, Issue 1, 2014, Pages 53-59

Erratum: Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome (Genet Med advance online publication, (June 6, 2013)); DOI: 10.1038/gim.2013.77;Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome

Author keywords

array; cytogenetics; diagnosis; karyotype; sex chromosomes; Turner syndrome

Indexed keywords

ADULT; AORTA COARCTATION; ARTICLE; BICUSPID AORTIC VALVE; CHROMOSOME TRANSLOCATION; CLINICAL FEATURE; COPY NUMBER VARIATION; CYTOGENETICS; FEMALE; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HUMAN; ISOCHROMOSOME; KARYOTYPE; KARYOTYPE 46,XX; KARYOTYPE 46,XY; KARYOTYPING; MARKER CHROMOSOME; METAPHASE; MONOSOMY X; MOSAICISM; PARTIAL TRISOMY 9; PHENOTYPE; PREMATURE OVARIAN FAILURE; SEX CHROMOSOME; SHORT STATURE; SINGLE NUCLEOTIDE POLYMORPHISM; TURNER SYNDROME; X CHROMOSOME; Y CHROMOSOME;

EID: 84893600517     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2013.180     Document Type: Erratum
Times cited : (41)

References (24)
  • 1
    • 34347340473 scopus 로고    scopus 로고
    • Aortic dilatation and dissection in Turner syndrome
    • Matura LA, Ho VB, Rosing DR, Bondy CA. Aortic dilatation and dissection in Turner syndrome. Circulation 2007;116:1663-1670.
    • (2007) Circulation , vol.116 , pp. 1663-1670
    • Matura, L.A.1    Ho, V.B.2    Rosing, D.R.3    Bondy, C.A.4
  • 2
    • 0030940217 scopus 로고    scopus 로고
    • Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
    • Rao E, Weiss B, Fukami M, et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 1997;16:54-63.
    • (1997) Nat Genet , vol.16 , pp. 54-63
    • Rao, E.1    Weiss, B.2    Fukami, M.3
  • 3
    • 81455158397 scopus 로고    scopus 로고
    • SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis
    • Hirschfeldova K, Solc R, Baxova A, et al. SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis. Gene 2012;491:123-127.
    • (2012) Gene , vol.491 , pp. 123-127
    • Hirschfeldova, K.1    Solc, R.2    Baxova, A.3
  • 5
    • 84859614012 scopus 로고    scopus 로고
    • Persistent genomic instability in peripheral blood lymphocytes from Hodgkin lymphoma survivors
    • Salas C, Niembro A, Lozano V, et al. Persistent genomic instability in peripheral blood lymphocytes from Hodgkin lymphoma survivors. Environ Mol Mutagen 2012;53:271-280.
    • (2012) Environ Mol Mutagen , vol.53 , pp. 271-280
    • Salas, C.1    Niembro, A.2    Lozano, V.3
  • 6
    • 33748272115 scopus 로고    scopus 로고
    • High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping
    • Peiffer DA, Le JM, Steemers FJ, et al. High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping. Genome Res 2006;16:1136-1148.
    • (2006) Genome Res , vol.16 , pp. 1136-1148
    • Peiffer, D.A.1    Le, J.M.2    Steemers, F.J.3
  • 7
    • 35948984173 scopus 로고    scopus 로고
    • PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
    • Wang K, Li M, Hadley D, et al. PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 2007;17:1665-1674.
    • (2007) Genome Res , vol.17 , pp. 1665-1674
    • Wang, K.1    Li, M.2    Hadley, D.3
  • 8
    • 78649764506 scopus 로고    scopus 로고
    • Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections
    • Prakash SK, LeMaire SA, Guo DC, et al. Rare copy number variants disrupt genes regulating vascular smooth muscle cell adhesion and contractility in sporadic thoracic aortic aneurysms and dissections. Am J Hum Genet 2010;87:743-756.
    • (2010) Am J Hum Genet , vol.87 , pp. 743-756
    • Prakash, S.K.1    Lemaire, S.A.2    Guo, D.C.3
  • 9
    • 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;19:1263-1275.
    • (2010) Hum Mol Genet , vol.19 , pp. 1263-1275
    • Conlin, L.K.1    Thiel, B.D.2    Bonnemann, C.G.3
  • 10
    • 75649088887 scopus 로고    scopus 로고
    • Laboratory Guideline for Turner Syndrome
    • Working Group of the ACMG Laboratory Quality Assurance Committee
    • Wolff DJ, Van Dyke DL, Powell CM; Working Group of the ACMG Laboratory Quality Assurance Committee. Laboratory guideline for Turner syndrome. Genet Med 2010;12:52-55.
    • (2010) Genet Med , vol.12 , pp. 52-55
    • Wolff, D.J.1    Van Dyke, D.L.2    Powell, C.M.3
  • 11
    • 79955414171 scopus 로고    scopus 로고
    • FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation
    • Koumbaris G, Hatzisevastou-Loukidou H, Alexandrou A, et al. FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formation. Hum Mol Genet 2011;20:1925-1936.
    • (2011) Hum Mol Genet , vol.20 , pp. 1925-1936
    • Koumbaris, G.1    Hatzisevastou-Loukidou, H.2    Alexandrou, A.3
  • 12
    • 77955381342 scopus 로고    scopus 로고
    • Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome
    • Scott SA, Cohen N, Brandt T, Warburton PE, Edelmann L. Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome. Hum Mol Genet 2010;19:3383-3393.
    • (2010) Hum Mol Genet , vol.19 , pp. 3383-3393
    • Scott, S.A.1    Cohen, N.2    Brandt, T.3    Warburton, P.E.4    Edelmann, L.5
  • 13
    • 2642558850 scopus 로고    scopus 로고
    • FISH analysis helps identify low-level mosaicism in Ullrich-Turner syndrome patients
    • Wiktor A, Van Dyke DL. FISH analysis helps identify low-level mosaicism in Ullrich-Turner syndrome patients. Genet Med 2004;6:132-135.
    • (2004) Genet Med , vol.6 , pp. 132-135
    • Wiktor, A.1    Van Dyke, D.L.2
  • 14
    • 33846055706 scopus 로고    scopus 로고
    • Care of girls and women with turner syndrome: A guideline of the turner syndrome study group
    • Turner Syndrome Study Group
    • Bondy CA; Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab 2007;92:10-25.
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 10-25
    • Bondy, C.A.1
  • 15
    • 34247868850 scopus 로고    scopus 로고
    • Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in Turner syndrome
    • El-Mansoury M, Barrenäs ML, Bryman I, et al. Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in Turner syndrome. Clin Endocrinol (Oxf) 2007;66:744-751.
    • (2007) Clin Endocrinol (Oxf) , vol.66 , pp. 744-751
    • El-Mansoury, M.1    Barrenäs, M.L.2    Bryman, I.3
  • 16
    • 79952292672 scopus 로고    scopus 로고
    • A highly sensitive, high-throughput assay for the detection of Turner syndrome
    • Rivkees SA, Hager K, Hosono S, et al. A highly sensitive, high-throughput assay for the detection of Turner syndrome. J Clin Endocrinol Metab 2011;96:699-705.
    • (2011) J Clin Endocrinol Metab , vol.96 , pp. 699-705
    • Rivkees, S.A.1    Hager, K.2    Hosono, S.3
  • 17
    • 77954657070 scopus 로고    scopus 로고
    • Functional impact of global rare copy number variation in autism spectrum disorders
    • Pinto D, Pagnamenta AT, Klei L, et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010;466: 368-372.
    • (2010) Nature , vol.466 , pp. 368-372
    • Pinto, D.1    Pagnamenta, A.T.2    Klei, L.3
  • 18
    • 0017347991 scopus 로고
    • Exclusion of chromosomal mosaicism: Tables of 90%, 95% and 99% confidence limits and comments on use
    • Hook EB. Exclusion of chromosomal mosaicism: tables of 90%, 95% and 99% confidence limits and comments on use. Am J Hum Genet 1977;29:94-97.
    • (1977) Am J Hum Genet , vol.29 , pp. 94-97
    • Hook, E.B.1
  • 19
    • 79953720043 scopus 로고    scopus 로고
    • Characterization of aneuploid populations with trisomy 7 and 20 derived from diploid human colonic epithelial cells
    • Ly P, Eskiocak U, Kim SB, et al. Characterization of aneuploid populations with trisomy 7 and 20 derived from diploid human colonic epithelial cells. Neoplasia 2011;13:348-357.
    • (2011) Neoplasia , vol.13 , pp. 348-357
    • Ly, P.1    Eskiocak, U.2    Kim, S.B.3
  • 20
    • 84873102265 scopus 로고    scopus 로고
    • Chromosomal instability in in vitro cultured mouse hematopoietic cells associated with oxidative stress
    • Liu AM, Qu WW, Liu X, Qu CK. Chromosomal instability in in vitro cultured mouse hematopoietic cells associated with oxidative stress. Am J Blood Res 2012;2:71-76.
    • (2012) Am J Blood Res , vol.2 , pp. 71-76
    • Liu, A.M.1    Qu, W.W.2    Liu, X.3    Qu, C.K.4
  • 21
    • 77955059763 scopus 로고    scopus 로고
    • Systematic chromosomal aberrations found in murine bone marrow-derived mesenchymal stem cells
    • Josse C, Schoemans R, Niessen NA, et al. Systematic chromosomal aberrations found in murine bone marrow-derived mesenchymal stem cells. Stem Cells Dev 2010;19:1167-1173.
    • (2010) Stem Cells Dev , vol.19 , pp. 1167-1173
    • Josse, C.1    Schoemans, R.2    Niessen, N.A.3
  • 22
    • 0024582740 scopus 로고
    • X chromosome instability associated with familial Turner syndrome
    • Tyrkus M, Hoffman WH, Kraemer-Flynn KM. X chromosome instability associated with familial Turner syndrome. Clin Genet 1989;35: 111-115.
    • (1989) Clin Genet , vol.35 , pp. 111-115
    • Tyrkus, M.1    Hoffman, W.H.2    Kraemer-Flynn, K.M.3
  • 23
    • 13044269648 scopus 로고    scopus 로고
    • Extensive analysis of mosaicism in a case of Turner syndrome: The experience of 287 cytogenetic laboratories.
    • College of American Pathologists/American College of Medical Genetics Cytogenetics Resource Committee
    • Park JP, Brothman AR, Butler MG, et al. Extensive analysis of mosaicism in a case of Turner syndrome: the experience of 287 cytogenetic laboratories. College of American Pathologists/American College of Medical Genetics Cytogenetics Resource Committee. Arch Pathol Lab Med 1999;123:381-385.
    • (1999) Arch Pathol Lab Med , vol.123 , pp. 381-385
    • Park, J.P.1    Brothman, A.R.2    Butler, M.G.3
  • 24
    • 0030904546 scopus 로고    scopus 로고
    • Telomeric fusion and chromosome instability in multiple tissues of a patient with mosaic Ullrich-Turner syndrome
    • Sawyer JR, Swanson CM, Lukacs JL, et al. Telomeric fusion and chromosome instability in multiple tissues of a patient with mosaic Ullrich-Turner syndrome. Am J Med Genet 1997;69:383-387.
    • (1997) Am J Med Genet , vol.69 , pp. 383-387
    • Sawyer, J.R.1    Swanson, C.M.2    Lukacs, J.L.3


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