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Volumn 146, Issue 6, 2008, Pages 730-739

Fine-mapping subtelomeric deletions and duplications by comparative genomic hybridization in 42 individuals

Author keywords

Array; Comparative genomic hybridization (CGH); Copy number variation (CNV); Subtelomere; Telomere

Indexed keywords

ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CHROMOSOME 1P; CHROMOSOME 22Q; CHROMOSOME 3P; CHROMOSOME 5Q; CHROMOSOME 6P; CHROMOSOME 9Q; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME MAP; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; COSMID; DNA MICROARRAY; FEMALE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TELOMERE;

EID: 40449093801     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32216     Document Type: Article
Times cited : (26)

References (26)
  • 2
    • 0037156322 scopus 로고    scopus 로고
    • Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome
    • Cargile CB, Goh DL, Goodman BK, Chen XN, Korenberg JR, Semenza GL, Thomas GH. 2002. Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome. Am J Med Genet 109:133-138.
    • (2002) Am J Med Genet , vol.109 , pp. 133-138
    • Cargile, C.B.1    Goh, D.L.2    Goodman, B.K.3    Chen, X.N.4    Korenberg, J.R.5    Semenza, G.L.6    Thomas, G.H.7
  • 5
    • 24344479481 scopus 로고    scopus 로고
    • Chromosome rearrangements in Cornelia de Lange syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p133) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements
    • DeScipio C, Kaur M, Yaeger D, Innis JW, Spinner NB, Jackson LG, Krantz ID. 2005. Chromosome rearrangements in Cornelia de Lange syndrome (CdLS): Report of a der(3)t(3;12)(p25.3;p133) in two half sibs with features of CdLS and review of reported CdLS cases with chromosome rearrangements. Am J Med Genet Part A 137A:276-282.
    • (2005) Am J Med Genet , vol.137 A , Issue.PART A , pp. 276-282
    • DeScipio, C.1    Kaur, M.2    Yaeger, D.3    Innis, J.W.4    Spinner, N.B.5    Jackson, L.G.6    Krantz, I.D.7
  • 6
    • 17644424608 scopus 로고    scopus 로고
    • Calibration of 6q subtelomere deletions to define genotype/phenotype correlations
    • Eash D, Waggoner D, Chung J, Stevenson D, Martin CL. 2005. Calibration of 6q subtelomere deletions to define genotype/phenotype correlations. Clin Genet 67:396-403.
    • (2005) Clin Genet , vol.67 , pp. 396-403
    • Eash, D.1    Waggoner, D.2    Chung, J.3    Stevenson, D.4    Martin, C.L.5
  • 7
    • 2442641704 scopus 로고    scopus 로고
    • Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, Lifton RP, State MW. 2004. Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. Am J Hum Genet 74:1286-1293.
    • Fernandez T, Morgan T, Davis N, Klin A, Morris A, Farhi A, Lifton RP, State MW. 2004. Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. Am J Hum Genet 74:1286-1293.
  • 18
    • 33745226965 scopus 로고    scopus 로고
    • Subtelomere FISH analysis of 11 688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities
    • Ravnan JB, Tepperberg JH, Papenhausen P, Lamb AN, Hedrick J, Eash D, Ledbetter DH, Martin CL. 2006. Subtelomere FISH analysis of 11 688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet 43:478-489.
    • (2006) J Med Genet , vol.43 , pp. 478-489
    • Ravnan, J.B.1    Tepperberg, J.H.2    Papenhausen, P.3    Lamb, A.N.4    Hedrick, J.5    Eash, D.6    Ledbetter, D.H.7    Martin, C.L.8
  • 19
    • 33751329250 scopus 로고    scopus 로고
    • Redon R, Ishikawa S, Fitch KR. Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, Gonzalez JR, Gratacos M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME. 2006. Global variation in copy number in the human genome. Nature 444:444-454.
    • Redon R, Ishikawa S, Fitch KR. Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, Gonzalez JR, Gratacos M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME. 2006. Global variation in copy number in the human genome. Nature 444:444-454.
  • 24
    • 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 Martin C. 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 Martin, C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.