메뉴 건너뛰기




Volumn 42, Issue 2, 2005, Pages 166-171

Tiling path resolution mapping of constitutional 1p36 deletions by array-CGH: Contiguous gene deletion or "deletion with positional effect" syndrome?

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHROMOSOME 1P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL TRIAL; COMPARATIVE GENE MAPPING; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DNA MICROARRAY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE; HUMAN; HUMAN CELL; MALE; MARKER GENE; MOLECULAR CLONING; MONOSOMY; PRIORITY JOURNAL;

EID: 13444287929     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.023861     Document Type: Article
Times cited : (51)

References (17)
  • 7
    • 0036334452 scopus 로고    scopus 로고
    • Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice
    • Colmenares C, Heilstedt HA, Shaffer LG, Schwartz S, Berk M, Murray JC, Stavnezer E. Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice. Nat Genet 2002;30:100-9.
    • (2002) Nat Genet , vol.30 , pp. 100-109
    • Colmenares, C.1    Heilstedt, H.A.2    Shaffer, L.G.3    Schwartz, S.4    Berk, M.5    Murray, J.C.6    Stavnezer, E.7
  • 11
    • 0031437595 scopus 로고    scopus 로고
    • Genome mapping by fluorescent fingerprinting
    • Gregory SG, Howell GR, Bentley DR. Genome mapping by fluorescent fingerprinting. Genome Res 1997;7:1162-8.
    • (1997) Genome Res , vol.7 , pp. 1162-1168
    • Gregory, S.G.1    Howell, G.R.2    Bentley, D.R.3
  • 12
    • 0030690108 scopus 로고    scopus 로고
    • FPC: A system for building contigs from restriction fingerprinted clones
    • Soderlund C, Longden I, Mott R. FPC: a system for building contigs from restriction fingerprinted clones. Comput Appl Biosci 1997;13:523-35.
    • (1997) Comput Appl Biosci , vol.13 , pp. 523-535
    • Soderlund, C.1    Longden, I.2    Mott, R.3
  • 14
    • 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. 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 2004;41:241-8.
    • (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
  • 15
    • 1542373558 scopus 로고    scopus 로고
    • Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions
    • Ballif BC, Gajecka M, Shaffer LG. Monosomy 1p36 breakpoints indicate repetitive DNA sequence elements may be involved in generating and/or stabilizing some terminal deletions. Chromosome Res 2004;12:133-41.
    • (2004) Chromosome Res , vol.12 , pp. 133-141
    • Ballif, B.C.1    Gajecka, M.2    Shaffer, L.G.3
  • 17
    • 0031663782 scopus 로고    scopus 로고
    • Position effect in human genetic disease
    • Kleinjan DJ, van Heyningen V. Position effect in human genetic disease. Hum Mol Genet 1998;7:1611-8.
    • (1998) Hum Mol Genet , vol.7 , pp. 1611-1618
    • Kleinjan, D.J.1    Van Heyningen, V.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.