메뉴 건너뛰기




Volumn 53, Issue 3, 2005, Pages 413-422

Molecular karyotyping: Array CGH quality criteria for constitutional genetic diagnosis

Author keywords

Array CGH; Constitutional cytogenetics; Molecular karyotyping; Postnatal diagnosis; Prenatal diagnosis

Indexed keywords

CHROMOSOME ANALYSIS; CHROMOSOME NUMBER; COMPARATIVE GENOMIC HYBRIDIZATION; CONFERENCE PAPER; CONTROLLED STUDY; CYTOGENETICS; FEMALE; HUMAN; HUMAN CELL; KARYOTYPING; MALE; MEDICAL RESEARCH; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; QUALITY CONTROL; TECHNOLOGY;

EID: 20044362567     PISSN: 00221554     EISSN: None     Source Type: Journal    
DOI: 10.1369/jhc.4A6436.2005     Document Type: Conference Paper
Times cited : (130)

References (28)
  • 1
  • 2
    • 0141994858 scopus 로고    scopus 로고
    • Genomic microarrays in human genetic disease and cancer
    • Albertson DG, Pinkel D (2003) Genomic microarrays in human genetic disease and cancer. Hum Mol Genet 12(Spec No 2):R145-152
    • (2003) Hum Mol Genet , vol.12 , Issue.SPEC. NO. 2
    • Albertson, D.G.1    Pinkel, D.2
  • 3
    • 0035252636 scopus 로고    scopus 로고
    • High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
    • Bruder CE, Hirvela C, Tapia-Paez I, Fransson I, Segraves R, Hamilton G, Zhang XX, et al. (2001) High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH. Hum Mol Genet 10:271-282
    • (2001) Hum Mol Genet , vol.10 , pp. 271-282
    • Bruder, C.E.1    Hirvela, C.2    Tapia-Paez, I.3    Fransson, I.4    Segraves, R.5    Hamilton, G.6    Zhang, X.X.7
  • 4
    • 0036781906 scopus 로고    scopus 로고
    • Comparative analysis of comparative genomic hybridization microarray technologies: Report of a workshop sponsored by the Wellcome Trust
    • Carter NP, Fiegler H, Piper J (2002) Comparative analysis of comparative genomic hybridization microarray technologies: report of a workshop sponsored by the Wellcome Trust. Cytometry 49: 43-48
    • (2002) Cytometry , vol.49 , pp. 43-48
    • Carter, N.P.1    Fiegler, H.2    Piper, J.3
  • 7
    • 0033976407 scopus 로고    scopus 로고
    • Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: Further confirmation
    • Hand JL, Michels W, Marinello MJ, Ketterling RP, Jalal SM (2000) Inherited interstitial deletion of chromosomes 5p and 16q without apparent phenotypic effect: further confirmation. Prenat Diagn 20:144-148
    • (2000) Prenat Diagn , vol.20 , pp. 144-148
    • Hand, J.L.1    Michels, W.2    Marinello, M.J.3    Ketterling, R.P.4    Jalal, S.M.5
  • 11
    • 10744231187 scopus 로고    scopus 로고
    • Representational oligonucleotide microarray analysis: A high-resolution method to detect genome copy number variation
    • Lucito R, Healy J, Alexander J, Reiner A, Esposito D, Chi M, Rodgers L, et al. (2003) Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation. Genome Res 13:2291-2305
    • (2003) Genome Res , vol.13 , pp. 2291-2305
    • Lucito, R.1    Healy, J.2    Alexander, J.3    Reiner, A.4    Esposito, D.5    Chi, M.6    Rodgers, L.7
  • 12
    • 1442280674 scopus 로고    scopus 로고
    • DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets
    • Mantripragada KK, Tapia-Paez I, Blennow E, Nilsson P, Wedell A, Dumanski JP (2004) DNA copy-number analysis of the 22q11 deletion-syndrome region using array-CGH with genomic and PCR-based targets. Int J Mol Med 13:273-279
    • (2004) Int J Mol Med , vol.13 , pp. 273-279
    • Mantripragada, K.K.1    Tapia-Paez, I.2    Blennow, E.3    Nilsson, P.4    Wedell, A.5    Dumanski, J.P.6
  • 14
    • 17344371740 scopus 로고    scopus 로고
    • High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
    • Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, Collins C, et al. (1998) High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 20:207-211
    • (1998) Nat Genet , vol.20 , pp. 207-211
    • Pinkel, D.1    Segraves, R.2    Sudar, D.3    Clark, S.4    Poole, I.5    Kowbel, D.6    Collins, C.7
  • 16
    • 0034809237 scopus 로고    scopus 로고
    • Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes
    • Riegel M, Baumer A, Jamar M, Delbecque K, Herens C, Verloes A, Schinzel A (2001) Submicroscopic terminal deletions and duplications in retarded patients with unclassified malformation syndromes. Hum Genet 109:286-294
    • (2001) Hum Genet , vol.109 , pp. 286-294
    • Riegel, M.1    Baumer, A.2    Jamar, M.3    Delbecque, K.4    Herens, C.5    Verloes, A.6    Schinzel, A.7
  • 17
    • 0034805155 scopus 로고    scopus 로고
    • Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations
    • Rosenberg MJ, Killoran C, Dziadzio L, Chang S, Stone DL, Meek J, Aughton D, et al. (2001) Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations. Hum Genet 109:311-318
    • (2001) Hum Genet , vol.109 , pp. 311-318
    • Rosenberg, M.J.1    Killoran, C.2    Dziadzio, L.3    Chang, S.4    Stone, D.L.5    Meek, J.6    Aughton, D.7
  • 18
    • 2442666390 scopus 로고    scopus 로고
    • Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages
    • Schaeffer AJ, Chung J, Heretis K, Wong A, Ledbetter DH, Lese MC (2004) Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages. Am J Hum Genet 74:1168-1174
    • (2004) Am J Hum Genet , vol.74 , pp. 1168-1174
    • Schaeffer, A.J.1    Chung, J.2    Heretis, K.3    Wong, A.4    Ledbetter, D.H.5    Lese, M.C.6
  • 19
    • 1542616279 scopus 로고    scopus 로고
    • The performance of CGH array for the detection of cryptic constitutional chromosome imbalances
    • Schoumans J, Anderlid BM, Blennow E, Teh BT, Nordenskjold M (2004) The performance of CGH array for the detection of cryptic constitutional chromosome imbalances. J Med Genet 41:198-202
    • (2004) J Med Genet , vol.41 , pp. 198-202
    • Schoumans, J.1    Anderlid, B.M.2    Blennow, E.3    Teh, B.T.4    Nordenskjold, M.5
  • 21
    • 11144356173 scopus 로고    scopus 로고
    • Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
    • Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, et al. (2004) Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet 41: 241-248
    • (2004) J Med Genet , vol.41 , pp. 241-248
    • Shaw-Smith, C.1    Redon, R.2    Rickman, L.3    Rio, M.4    Willatt, L.5    Fiegler, H.6    Firth, H.7
  • 22
    • 0032901062 scopus 로고    scopus 로고
    • Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres
    • Slavotinek A, Rosenberg M, Knight S, Gaunt L, Fergusson W, Killoran C, Clayton-Smith J, et al. (1999) Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. J Med Genet 36:405-411
    • (1999) J Med Genet , vol.36 , pp. 405-411
    • Slavotinek, A.1    Rosenberg, M.2    Knight, S.3    Gaunt, L.4    Fergusson, W.5    Killoran, C.6    Clayton-Smith, J.7
  • 25
    • 10744232485 scopus 로고    scopus 로고
    • Small supernumerary marker chromosomes (SMCs): Genotype-phenotype correlation and classification
    • Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, et al. (2003) Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum Genet 114:51-67
    • (2003) Hum Genet , vol.114 , pp. 51-67
    • Starke, H.1    Nietzel, A.2    Weise, A.3    Heller, A.4    Mrasek, K.5    Belitz, B.6    Kelbova, C.7
  • 26
    • 10744225365 scopus 로고    scopus 로고
    • Automated array-based genomic profiling in chronic lymphocytic leukemia: Development of a clinical tool and discovery of recurrent genomic alterations
    • Schwaenen C, Nessling M, Wessendorf S, Salvi T, Wrobel G, Radlwimmer B, Kestler HA, et al. (2004) Automated array-based genomic profiling in chronic lymphocytic leukemia: development of a clinical tool and discovery of recurrent genomic alterations. Proc Natl Acad Sci USA 101:1039-1044
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 1039-1044
    • Schwaenen, C.1    Nessling, M.2    Wessendorf, S.3    Salvi, T.4    Wrobel, G.5    Radlwimmer, B.6    Kestler, H.A.7
  • 27
    • 4444242261 scopus 로고    scopus 로고
    • Mild Wolf-Hirschhorn syndrome: Microarray CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map
    • Van Buggenhout G, Melotte C, Dutta B, Froyen G, Van Hummelen P, Marynen P, Matthijs G, et al. (2004) Mild Wolf-Hirschhorn syndrome: microarray CGH analysis of atypical 4p16.3 deletions enables refinement of the genotype-phenotype map. J Med Genet 41:691-698
    • (2004) J Med Genet , vol.41 , pp. 691-698
    • Van Buggenhout, G.1    Melotte, C.2    Dutta, B.3    Froyen, G.4    Van Hummelen, P.5    Marynen, P.6    Matthijs, G.7
  • 28
    • 9144240478 scopus 로고    scopus 로고
    • Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities
    • Vissers LE, de Vries BB, Osoegawa K, Janssen IM, Feuth T, Choy CO, Straatman H, et al. (2003) Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. Am J Hum Genet 73:1261-1270
    • (2003) Am J Hum Genet , vol.73 , pp. 1261-1270
    • Vissers, L.E.1    De Vries, B.B.2    Osoegawa, K.3    Janssen, I.M.4    Feuth, T.5    Choy, C.O.6    Straatman, H.7


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.