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Volumn 45, Issue 6, 2008, Pages 391-395

Expansion in size of a terminal deletion: A paradigm shift for parental follow-up studies

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME STRUCTURE; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; FOLLOW UP; GENETIC LINKAGE; HUMAN; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; TELOMERE;

EID: 45249096038     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2008.057315     Document Type: Article
Times cited : (17)

References (16)
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  • 2
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    • American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation
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    • Shaffer, L.G.1
  • 3
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    • Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available aCGH microarray platform
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    • Aston E, Whitby H, Maxwell T, Hair N, Cowley B, Lowry D, Zhu XL, Issa B, South ST, Brothman AR. Comparison of targeted and whole genome analysis of postnatal specimens using a commercially available aCGH microarray platform. J Med Genet 2008 Jan 4 [epub ahead of print]
    • (2008) J Med Genet
    • Aston, E.1    Whitby, H.2    Maxwell, T.3    Hair, N.4    Cowley, B.5    Lowry, D.6    Zhu, X.L.7    Issa, B.8    South, S.T.9    Brothman, A.R.10
  • 6
    • 33746167778 scopus 로고    scopus 로고
    • Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
    • Shaffer LG, Kashork CD, Saleki R, Rorem E, Sundin K, Ballif BC, Bejjani BA. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 2006;149:98-102.
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    • Shaffer, L.G.1    Kashork, C.D.2    Saleki, R.3    Rorem, E.4    Sundin, K.5    Ballif, B.C.6    Bejjani, B.A.7
  • 7
    • 34347361618 scopus 로고    scopus 로고
    • Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
    • Lee C, Iafrate AJ, Brothman AR. Copy number variations and clinical cytogenetic diagnosis of constitutional disorders. Nat Genet 2007:39(7 Suppl):S48-54.
    • (2007) Nat Genet , vol.39 , Issue.7 SUPPL.
    • Lee, C.1    Iafrate, A.J.2    Brothman, A.R.3
  • 8
    • 34548668183 scopus 로고    scopus 로고
    • Structural variation in the human genome: The impact of copy number variants on clinical diagnosis
    • Rodriguez-Revenga L, Mila M, Rosenberg, C, Lamb A, Lee C. Structural variation in the human genome: the impact of copy number variants on clinical diagnosis. Genet Med 2007;9:600-6.
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  • 11
    • 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. 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 2006;43:478-89.
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    • 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
  • 13
    • 34249871912 scopus 로고    scopus 로고
    • Mother to son amplification of a small subtelomeric deletion: A new mechanism of familial recurrence in microdeletion syndromes
    • Faravelli F, Murdolo M, Marangi G, Bricarelli FD, Di Rocco M, Zollino M. Mother to son amplification of a small subtelomeric deletion: a new mechanism of familial recurrence in microdeletion syndromes. Am J Med Genet A 2007;143:1169-73.
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  • 14
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    • Identification of 2.3-Mb gene locus for congenital aural atresia in 18q22.3 deletion: A case report analyzed by comparative genomic hybridization
    • Dostal A, Nemeckova J, Gaillyova R, Vranova V, Zezulkova D, Lejska M, Slapak I, Dostalova Z, Kuglik P. Identification of 2.3-Mb gene locus for congenital aural atresia in 18q22.3 deletion: a case report analyzed by comparative genomic hybridization. Otol Neurotol 2006;27:427-32.
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    • Dostal, A.1    Nemeckova, J.2    Gaillyova, R.3    Vranova, V.4    Zezulkova, D.5    Lejska, M.6    Slapak, I.7    Dostalova, Z.8    Kuglik, P.9
  • 15
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.