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Volumn 43, Issue 6, 2006, Pages 478-489

Subtelomere FISH analysis of 11 688 cases: An evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CHROMOSOME DELETION; CHROMOSOME POLYMORPHISM; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; DEVELOPMENTAL DISORDER; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; TANDEM REPEAT; TELOMERE;

EID: 33745226965     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2005.036350     Document Type: Article
Times cited : (323)

References (18)
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    • Shevell M, Ashwal S, Donley D, Flint J, Gingold M, Hirtz D, Majnemer A, Noetzel M, Sheth RD. Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society. Neurology 2003;60:367-80.
    • (2003) Neurology , vol.60 , pp. 367-380
    • Shevell, M.1    Ashwal, S.2    Donley, D.3    Flint, J.4    Gingold, M.5    Hirtz, D.6    Majnemer, A.7    Noetzel, M.8    Sheth, R.D.9
  • 2
    • 0042306314 scopus 로고    scopus 로고
    • Diagnostic evaluation of developmental delay/mental retardation: An overview
    • Battaglia A, Carey JC. Diagnostic evaluation of developmental delay/mental retardation: An overview. Am J Med Genet C Semin Med Genet 2003;117:3-14.
    • (2003) Am J Med Genet C Semin Med Genet , vol.117 , pp. 3-14
    • Battaglia, A.1    Carey, J.C.2
  • 3
    • 0036467131 scopus 로고    scopus 로고
    • The end of the beginning of chromosome ends
    • Biesecker LG. The end of the beginning of chromosome ends. Am J Med Genet 2002;107:263-6.
    • (2002) Am J Med Genet , vol.107 , pp. 263-266
    • Biesecker, L.G.1
  • 6
    • 0035173443 scopus 로고    scopus 로고
    • Subtelomeric rearrangements: Results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH
    • Joyce CA, Dennis NR, Cooper S, Browne CE. Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH. Hum Genet 2001;109:440-51.
    • (2001) Hum Genet , vol.109 , pp. 440-451
    • Joyce, C.A.1    Dennis, N.R.2    Cooper, S.3    Browne, C.E.4
  • 9
    • 18344389362 scopus 로고    scopus 로고
    • Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing
    • Wong A, Lese Martin C, Heretis K, Ruffalo T, Wilber K, King W, Ledbetter DH. Detection and calibration of microdeletions and microduplications by array-based comparative genomic hybridization and its applicability to clinical genetic testing. Genet Med 2005;7:264-71.
    • (2005) Genet Med , vol.7 , pp. 264-271
    • Wong, A.1    Lese Martin, C.2    Heretis, K.3    Ruffalo, T.4    Wilber, K.5    King, W.6    Ledbetter, D.H.7
  • 12
    • 0027445412 scopus 로고
    • Chromosome testing in children with developmental delay in whom the aetiology is not evident clinically
    • Graham SM, Selikowitz M. Chromosome testing in children with developmental delay in whom the aetiology is not evident clinically. J Paediatr Child Health 1993;29:360-2.
    • (1993) J Paediatr Child Health , vol.29 , pp. 360-362
    • Graham, S.M.1    Selikowitz, M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.