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Volumn 20, Issue 3, 2011, Pages 143-147

A clinical report and further delineation of the 14q32 deletion syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANAMNESIS; ARTICLE; ATTENTION DEFICIT DISORDER; CASE REPORT; CHROMOSOME 14Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; FEMALE; HUMAN; INTELLIGENCE QUOTIENT; LANGUAGE DEVELOPMENT; MICROARRAY ANALYSIS; PERVASIVE DEVELOPMENTAL DISORDER NOT OTHERWISE SPECIFIED; PRIORITY JOURNAL;

EID: 79959243529     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0b013e3283438200     Document Type: Article
Times cited : (10)

References (15)
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    • Characterization, chromosomal localization, and the complete 30-kb DNA sequence of the human Jagged2 (JAG2) gene
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    • Deng Y, Madan A, Banta AB, Friedman C, Trask BJ, Hood L, Li L (2000). Characterization, chromosomal localization, and the complete 30-kb DNA sequence of the human Jagged2 (JAG2) gene. Genomics 63:133-138. (Pubitemid 30112247)
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  • 3
    • 0020528037 scopus 로고
    • Distal monosomy 14 not associated with ring formation
    • Hreidarsson SJ, Stamberg J (1983). Distal monosomy 14 not associated with ring formation. J Med Genet 20:147-148.
    • (1983) J Med Genet , vol.20 , pp. 147-148
    • Hreidarsson, S.J.1    Stamberg, J.2
  • 5
    • 0026047505 scopus 로고
    • Regulatory element analysis and structural characterization of the human sarcomeric mitochondrial creatine kinase gene
    • Klein SC, Haas RC, Perryman MB, Billadello JJ, Strauss AW (1991). Regulatory element analysis and structural characterization of the human sarcomeric mitochondrial creatine kinase gene. J Biol Chem 266:18058-18065. (Pubitemid 21908047)
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    • Klein, S.C.1    Haas, R.C.2    Perryman, M.B.3    Billadello, J.J.4    Strauss, A.W.5
  • 6
    • 0024809011 scopus 로고
    • Partial deletion of 14q and partial duplication of 14q in sibs: Testicular mosaicism for t(14q;14q) as a common mechanism
    • Masada CT, Olney AH, Fordyce R, Sanger WG (1989). Partial deletion of 14q and partial duplication of 14q in sibs: testicular mosaicism for t(14q;14q) as a common mechanism. Am J Med Genet 34:635-637.
    • (1989) Am J Med Genet , vol.34 , pp. 635-637
    • Masada, C.T.1    Olney, A.H.2    Fordyce, R.3    Sanger, W.G.4
  • 10
    • 66849128445 scopus 로고    scopus 로고
    • A child with terminal 14q deletion syndrome: Consideration of genotype-phenotype correlations
    • Schlade-Bartusiak K, Ardinger H, Cox DW (2009). A child with terminal 14q deletion syndrome: consideration of genotype-phenotype correlations. Am J Med Genet 149A:1012-1018.
    • (2009) Am J Med Genet , vol.149 A , pp. 1012-1018
    • Schlade-Bartusiak, K.1    Ardinger, H.2    Cox, D.W.3
  • 13
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    • A further case of terminal deletion (14)(q32.2) in a child with mild dysmorphic features
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    • Molecular analysis redefines three human chromosome 14 deletions
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    • (1995) Hum Genet , vol.95 , pp. 495-500
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.