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Volumn 143, Issue 9, 2007, Pages 925-932

Detection of single clone deletions using array CGH: Identification of submicroscopic deletions in the 22q11.2 deletion syndrome as a model system

Author keywords

22q11.2 deletion syndrome; Array CGH; Array comparative genomic hybridization; Chromosome 22q; Genome wide scan; Polymorphism; Submicroscopic deletion syndrome

Indexed keywords

ARTICLE; CHROMOSOME 22; CHROMOSOME DELETION; CHROMOSOME DELETION 22; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE IDENTIFICATION; HIGH THROUGHPUT SCREENING; HUMAN; HUMAN CELL; MOLECULAR CLONING; MOLECULAR MODEL; PHENOTYPE; PRIORITY JOURNAL;

EID: 34247892309     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31662     Document Type: Article
Times cited : (5)

References (37)
  • 1
    • 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:R145-R152.
    • (2003) Hum Mol Genet , vol.12
    • Albertson, D.G.1    Pinkel, D.2
  • 2
    • 0033597384 scopus 로고    scopus 로고
    • No evidence for chromosomal microdeletions at the second DiGeorge syndrome locus on 10p near D10 S585
    • Bartsch O, Wagner A, Hinkel GK, Lichtner P, Murken J, Schuffenhauer S. 1999. No evidence for chromosomal microdeletions at the second DiGeorge syndrome locus on 10p near D10 S585. Am J Med Genet 83:425-426.
    • (1999) Am J Med Genet , vol.83 , pp. 425-426
    • Bartsch, O.1    Wagner, A.2    Hinkel, G.K.3    Lichtner, P.4    Murken, J.5    Schuffenhauer, S.6
  • 3
    • 0038074204 scopus 로고    scopus 로고
    • DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion
    • Bartsch O, Nemeckova M, Kocarek E, Wagner A, Puchmajerova A, Poppe M, Ounap K, Goetz P. 2003. DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion. Am J Med Genet Part A 117A:1-5.
    • (2003) Am J Med Genet , vol.117 A , Issue.PART A , pp. 1-5
    • Bartsch, O.1    Nemeckova, M.2    Kocarek, E.3    Wagner, A.4    Puchmajerova, A.5    Poppe, M.6    Ounap, K.7    Goetz, P.8
  • 6
    • 0035865257 scopus 로고    scopus 로고
    • Cheung VG, Nowak N, Jang W, Kirsch IR, Zhao S, Chen XN, Furey TS, Kim UJ, Kuo WL, Olivier M, Conroy J, Kasprzyk A, Massa H, Yonescu R, Sait S, Thoreen C, Snijders A, Lemyre E, Bailey JA, Bruzel A, Burrill WD, Clegg SM, Collins S, Dhami P, Friedman C, Han CS, Herrick S, Lee J, Ligon AH, Lowry S, Morley M, Narasimhan S, Osoegawa K, Peng Z, Plajzer-Frick I, Quade BJ, Scott D, Sirotkin K, Thorpe AA, Gray JW, Hudson J, Pinkel D, Ried T, Rowen L, Shen-Ong GL, Strausberg RL, Birney E, Callen DF, Cheng JF, Cox DR, Doggett NA, Carter NP, Eichler EE, Haussler D, Korenberg JR, Morton CC, Albertson D, Schuler G, de Jong PJ, Trask BJ. 2001. Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature 409:953-958.
    • Cheung VG, Nowak N, Jang W, Kirsch IR, Zhao S, Chen XN, Furey TS, Kim UJ, Kuo WL, Olivier M, Conroy J, Kasprzyk A, Massa H, Yonescu R, Sait S, Thoreen C, Snijders A, Lemyre E, Bailey JA, Bruzel A, Burrill WD, Clegg SM, Collins S, Dhami P, Friedman C, Han CS, Herrick S, Lee J, Ligon AH, Lowry S, Morley M, Narasimhan S, Osoegawa K, Peng Z, Plajzer-Frick I, Quade BJ, Scott D, Sirotkin K, Thorpe AA, Gray JW, Hudson J, Pinkel D, Ried T, Rowen L, Shen-Ong GL, Strausberg RL, Birney E, Callen DF, Cheng JF, Cox DR, Doggett NA, Carter NP, Eichler EE, Haussler D, Korenberg JR, Morton CC, Albertson D, Schuler G, de Jong PJ, Trask BJ. 2001. Integration of cytogenetic landmarks into the draft sequence of the human genome. Nature 409:953-958.
  • 8
    • 0029552859 scopus 로고
    • Terminal deletion in chromosome region 8p23.1-8pter in a child with features of velo-cardio-facial syndrome
    • Devriendt K, De Mars K, De Cock P, Gewillig M, Fryns JP. 1995. Terminal deletion in chromosome region 8p23.1-8pter in a child with features of velo-cardio-facial syndrome. Ann Genet 38:228-230.
    • (1995) Ann Genet , vol.38 , pp. 228-230
    • Devriendt, K.1    De Mars, K.2    De Cock, P.3    Gewillig, M.4    Fryns, J.P.5
  • 10
    • 0042387792 scopus 로고    scopus 로고
    • Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster
    • Hollox EJ, Armour JA, Barber JC. 2003. Extensive normal copy number variation of a beta-defensin antimicrobial-gene cluster. Am J Hum Genet 73:591-600.
    • (2003) Am J Hum Genet , vol.73 , pp. 591-600
    • Hollox, E.J.1    Armour, J.A.2    Barber, J.C.3
  • 14
    • 0025938419 scopus 로고
    • Expressed hypervariable polymorphism of apolipoprotein (a)
    • Kamboh MI, Ferrell RE, Kottke BA. 1991. Expressed hypervariable polymorphism of apolipoprotein (a). Am J Hum Genet 49:1063-1074.
    • (1991) Am J Hum Genet , vol.49 , pp. 1063-1074
    • Kamboh, M.I.1    Ferrell, R.E.2    Kottke, B.A.3
  • 15
    • 2942746722 scopus 로고    scopus 로고
    • Prader-Willi syndrome resulting from an unbalanced translocation: Characterization by array comparative genomic hybridization
    • Klein OD, Cotter PD, Albertson DG, Pinkel D, Tidyman WE, Moore MW, Rauen KA. 2004. Prader-Willi syndrome resulting from an unbalanced translocation: Characterization by array comparative genomic hybridization. Clin Genet 65:477-482.
    • (2004) Clin Genet , vol.65 , pp. 477-482
    • Klein, O.D.1    Cotter, P.D.2    Albertson, D.G.3    Pinkel, D.4    Tidyman, W.E.5    Moore, M.W.6    Rauen, K.A.7
  • 16
    • 0028029094 scopus 로고
    • Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence
    • Lindgren V, Rosinsky B, Chin J, Berry-Kravis E. 1994. Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence. Am J Med Genet 49:67-73.
    • (1994) Am J Med Genet , vol.49 , pp. 67-73
    • Lindgren, V.1    Rosinsky, B.2    Chin, J.3    Berry-Kravis, E.4
  • 17
    • 0035514706 scopus 로고    scopus 로고
    • Chromosomal microdeletions: Dissecting del22q11 syndrome
    • Lindsay EA. 2001. Chromosomal microdeletions: Dissecting del22q11 syndrome. Nat Rev Genet 2:858-868.
    • (2001) Nat Rev Genet , vol.2 , pp. 858-868
    • Lindsay, E.A.1
  • 20
    • 1842607847 scopus 로고    scopus 로고
    • R Development Core Team, Vienna, Austria: R Foundation for Statistical Computing
    • R Development Core Team. 2004. R: A language and environment for statistical computing. Vienna, Austria: R Foundation for Statistical Computing. http://www.R-project.org.
    • (2004) R: A language and environment for statistical computing
  • 21
    • 0036605189 scopus 로고    scopus 로고
    • Additional patient with del(12)(q21.2q22): Further evidence for a candidate region for cardio-facio-cutaneous syndrome?
    • Rauen KA, Albertson DG, Pinkel D, Cotter PD. 2002. Additional patient with del(12)(q21.2q22): Further evidence for a candidate region for cardio-facio-cutaneous syndrome? Am J Med Genet 110:51-56.
    • (2002) Am J Med Genet , vol.110 , pp. 51-56
    • Rauen, K.A.1    Albertson, D.G.2    Pinkel, D.3    Cotter, P.D.4
  • 27
    • 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, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP. 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    Sanlaville, D.8    Winter, R.9    Colleaux, L.10    Bobrow, M.11    Carter, N.P.12
  • 29
    • 0033590681 scopus 로고    scopus 로고
    • Child with velocardiofacial syndrome and del (4)(q34.2): Another critical region associated with a velocardiofacial syndrome-like phenotype
    • Tsai CH, Van Dyke DL, Feldman GL. 1999. Child with velocardiofacial syndrome and del (4)(q34.2): Another critical region associated with a velocardiofacial syndrome-like phenotype. Am J Med Genet 82:336-339.
    • (1999) Am J Med Genet , vol.82 , pp. 336-339
    • Tsai, C.H.1    Van Dyke, D.L.2    Feldman, G.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.