메뉴 건너뛰기




Volumn 13, Issue 4, 2004, Pages 417-428

Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion

Author keywords

[No Author keywords available]

Indexed keywords

DNA HOMOLOG; PROTEIN MLH1;

EID: 10744220154     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddh041     Document Type: Article
Times cited : (123)

References (35)
  • 4
    • 0029900006 scopus 로고    scopus 로고
    • Developmental genetics of the heart
    • Burn, J. and Goodship, J. (1996) Developmental genetics of the heart. Curr Opin Genet Dev., 6, 322-325.
    • (1996) Curr. Opin. Genet. Dev. , vol.6 , pp. 322-325
    • Burn, J.1    Goodship, J.2
  • 5
    • 0033358588 scopus 로고    scopus 로고
    • Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome
    • Edelmann, L., Pandita, R.K. and Morrow, B.E. (1999) Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am. J. Hum. Genet., 64, 1076-1086.
    • (1999) Am. J. Hum. Genet. , vol.64 , pp. 1076-1086
    • Edelmann, L.1    Pandita, R.K.2    Morrow, B.E.3
  • 8
    • 0035487212 scopus 로고    scopus 로고
    • Segmental duplications: An 'expanding' role in genomic instability and disease
    • Emanuel, B.S. and Shaikh, T.H. (2001) Segmental duplications: an 'expanding' role in genomic instability and disease. Nat. Rev. Genet., 2, 791-800.
    • (2001) Nat. Rev. Genet. , vol.2 , pp. 791-800
    • Emanuel, B.S.1    Shaikh, T.H.2
  • 9
    • 0036407262 scopus 로고    scopus 로고
    • Molecular mechanisms for genomic disorders
    • Inoue, K. and Lupski, J.R. (2002) Molecular mechanisms for genomic disorders. A. Rev. Genom. Hum. Genet., 3, 199-242.
    • (2002) A. Rev. Genom. Hum. Genet. , vol.3 , pp. 199-242
    • Inoue, K.1    Lupski, J.R.2
  • 14
    • 0036842833 scopus 로고    scopus 로고
    • Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2
    • Shaw, C.J., Bi, W. and Lupski, J.R. (2002) Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2. Am. J. Hum. Genet., 71, 1072-1081.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 1072-1081
    • Shaw, C.J.1    Bi, W.2    Lupski, J.R.3
  • 16
    • 0034081868 scopus 로고    scopus 로고
    • Investigation of meiotic rearrangements in DGS/VCFS patients with a microdeletion 22q11.2
    • Trost, D., Wiebe, W, Uhlhaas, S., Schwindt, P. and Schwanitz, G. (2000) Investigation of meiotic rearrangements in DGS/VCFS patients with a microdeletion 22q11.2. J. Med. Genet., 37, 452-454.
    • (2000) J. Med. Genet. , vol.37 , pp. 452-454
    • Trost, D.1    Wiebe, W.2    Uhlhaas, S.3    Schwindt, P.4    Schwanitz, G.5
  • 18
    • 0028006688 scopus 로고
    • Pulmonary atresia associated with maternal 22q11.2 deletion: Possible parent of origin effect in the conotruncal anomaly face syndrome
    • Seaver, L.H., Pierpont, J.W., Erickson, R.P., Donnerstein, R.L. and Cassidy, S.B. (1994) Pulmonary atresia associated with maternal 22q11.2 deletion: possible parent of origin effect in the conotruncal anomaly face syndrome. J. Med. Genet., 31, 830-834.
    • (1994) J. Med. Genet. , vol.31 , pp. 830-834
    • Seaver, L.H.1    Pierpont, J.W.2    Erickson, R.P.3    Donnerstein, R.L.4    Cassidy, S.B.5
  • 19
    • 0029003331 scopus 로고
    • Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes A study of 22 new patients and review of the literature
    • Demczuk, S., Levy, A., Aubry, M., Croquette, M.F., Philip, N., Prieur, M., Sauer, U., Bouvagnet, P., Rouleau, G.A., Thomas, G. et al. (1995) Excess of deletions of maternal origin in the DiGeorge/velo-cardio-facial syndromes A study of 22 new patients and review of the literature. Hum. Genet., 96, 9-13.
    • (1995) Hum. Genet. , vol.96 , pp. 9-13
    • Demczuk, S.1    Levy, A.2    Aubry, M.3    Croquette, M.F.4    Philip, N.5    Prieur, M.6    Sauer, U.7    Bouvagnet, P.8    Rouleau, G.A.9    Thomas, G.10
  • 24
    • 0036913535 scopus 로고    scopus 로고
    • Integrating genetic recombination and meiotic chromosome structure in male mice
    • Froenicke, L., Anderson, L.K., Wienberg, J. and Ashley, T. (2002) Integrating genetic recombination and meiotic chromosome structure in male mice. Am. J. Hum. Genet., 71, 1353-1368.
    • (2002) Am. J. Hum. Genet. , vol.71 , pp. 1353-1368
    • Froenicke, L.1    Anderson, L.K.2    Wienberg, J.3    Ashley, T.4
  • 26
    • 0037300982 scopus 로고    scopus 로고
    • No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome
    • Gebhardt, G.S., Devriendt, K., Thoelen, R., Swillen, A., Pijkels, E., Gewillig, M., Fryns, J.P. and Vermeesch, J.R. (2003) No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome. Eur. J. Hum. Genet., 11, 109-111.
    • (2003) Eur. J. Hum. Genet. , vol.11 , pp. 109-111
    • Gebhardt, G.S.1    Devriendt, K.2    Thoelen, R.3    Swillen, A.4    Pijkels, E.5    Gewillig, M.6    Fryns, J.P.7    Vermeesch, J.R.8
  • 28
    • 0029831686 scopus 로고    scopus 로고
    • Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome
    • Dutly, F. and Schinzel, A. (1996) Unequal interchromosomal rearrangements may result in elastin gene deletions causing the Williams-Beuren syndrome. Hum. Mol. Genet., 5, 1893-1898.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 1893-1898
    • Dutly, F.1    Schinzel, A.2
  • 30
    • 0034234453 scopus 로고    scopus 로고
    • Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22)
    • Kurahashi, H., Shaikh, T.H., Hu, P., Roe, B.A., Emanuel, B. and Budarf, M.L. (2000) Regions of genomic instability on 22q11 and 11q23 as the etiology for the recurrent constitutional t(11;22). Hum. Mol. Genet., 9, 1665-1670.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 1665-1670
    • Kurahashi, H.1    Shaikh, T.H.2    Hu, P.3    Roe, B.A.4    Emanuel, B.5    Budarf, M.L.6
  • 32
    • 0031292262 scopus 로고    scopus 로고
    • PCR assay for screening patients at risk for 22q11.2 deletion
    • Driscoll, D.A., Emanuel, B.S., Mitchell, L.E. and Budarf, M.L. (1997) PCR assay for screening patients at risk for 22q11.2 deletion. Genet. Test., 1, 109-113.
    • (1997) Genet. Test. , vol.1 , pp. 109-113
    • Driscoll, D.A.1    Emanuel, B.S.2    Mitchell, L.E.3    Budarf, M.L.4
  • 35
    • 0032918559 scopus 로고    scopus 로고
    • Distribution of crossing over on mouse synaptonemal complexes using immunofluorescent localization of MLH1 protein
    • Anderson, L.K., Reeves, A., Webb, L.M. and Ashley, T. (1999) Distribution of crossing over on mouse synaptonemal complexes using immunofluorescent localization of MLH1 protein. Genetics, 151, 1569-1579.
    • (1999) Genetics , vol.151 , pp. 1569-1579
    • Anderson, L.K.1    Reeves, A.2    Webb, L.M.3    Ashley, T.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.