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Volumn 77, Issue 3-4, 1997, Pages 246-251

Development of diagnostic tools for the analysis of 5p deletions using interphase FISH

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ARTICLE; CAT CRY SYNDROME; CHROMOSOME 5P; CHROMOSOME DELETION 5; COSMID; FACIES; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; INTERPHASE; MENTAL DEVELOPMENT; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; YEAST ARTIFICIAL CHROMOSOME;

EID: 0030821483     PISSN: 03010171     EISSN: None     Source Type: Journal    
DOI: 10.1159/000134586     Document Type: Article
Times cited : (14)

References (18)
  • 1
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    • (1990) Proc Natl Acad Sci , vol.87 , pp. 4256-4260
    • Albertsen, H.M.1    Abderrahim, H.2    Cann, H.M.3    Dausset, J.4    Pralier, D.L.5    Cohen, D.6
  • 3
    • 0005583015 scopus 로고
    • Del (5p) without "cri du chat" phenotype
    • Baccichetti C: Del (5p) without "cri du chat" phenotype. Hum Genet 60:389 (1982).
    • (1982) Hum Genet , vol.60 , pp. 389
    • Baccichetti, C.1
  • 5
    • 0005637203 scopus 로고
    • Phenotypically normal carriers of unbalanced terminal deletions of 5p transmit the deletions to offspring who display growth and developmental delay
    • Bengtsson U, McMahon J, Quarrell O, Rubenstein C, David K, Greenberg F, Wasmuth JJ: Phenotypically normal carriers of unbalanced terminal deletions of 5p transmit the deletions to offspring who display growth and developmental delay. Am J hum Genet Supple 47:A208 (1990).
    • (1990) Am J Hum Genet Supple , vol.47
    • Bengtsson, U.1    McMahon, J.2    Quarrell, O.3    Rubenstein, C.4    David, K.5    Greenberg, F.6    Wasmuth, J.J.7
  • 7
    • 0028947055 scopus 로고
    • Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features
    • Church DM, Bengtsson U, Nielsen KV, Wasmuth JJ, Niebuhr E: Molecular definition of deletions of different segments of distal 5p that result in distinct phenotypic features. Am J hum Genet 56:1162-1172 (1995).
    • (1995) Am J Hum Genet , vol.56 , pp. 1162-1172
    • Church, D.M.1    Bengtsson, U.2    Nielsen, K.V.3    Wasmuth, J.J.4    Niebuhr, E.5
  • 8
    • 0019981739 scopus 로고
    • Linkage of the leuS, emtB and chr genes on chromsome 5 in humans and expression of human genes encoding proteins synthetic components in human-Chinese hamster hybrids
    • Dana S, Wasmuth JJ: Linkage of the leuS, emtB and chr genes on chromsome 5 in humans and expression of human genes encoding proteins synthetic components in human-Chinese hamster hybrids. Somat Cell Genet 8:245-264 (1982).
    • (1982) Somat Cell Genet , vol.8 , pp. 245-264
    • Dana, S.1    Wasmuth, J.J.2
  • 13
    • 0017898839 scopus 로고
    • Cytological observations in 35 individuals with a 5p- Karyotype
    • Niebuhr E: Cytological observations in 35 individuals with a 5p-karyotype. Hum Genet 42:143-156 (1978a).
    • (1978) Hum Genet , vol.42 , pp. 143-156
    • Niebuhr, E.1
  • 14
    • 0018137411 scopus 로고
    • The cri du chat syndrome: Epidemiology, cytogenetic, and clinical features
    • Niebuhr E: The cri du chat syndrome: epidemiology, cytogenetic, and clinical features. Hum Genet 44:227-275 (1978b).
    • (1978) Hum Genet , vol.44 , pp. 227-275
    • Niebuhr, E.1
  • 15
    • 0023031758 scopus 로고
    • Molecular analysis of an unblanced deletion of the short arm of chromosome 5 that produces no phenotype
    • Overhauser J, Golbus MS, Schonenberg SA, Wasmuth JJ: Molecular analysis of an unblanced deletion of the short arm of chromosome 5 that produces no phenotype. Am J hum Genet 39:1-10 (1986).
    • (1986) Am J Hum Genet , vol.39 , pp. 1-10
    • Overhauser, J.1    Golbus, M.S.2    Schonenberg, S.A.3    Wasmuth, J.J.4
  • 16
    • 0028054658 scopus 로고
    • Molecular and phenotypic mapping of the short arm of chromosome 5: Sublocalization of the critical region for the cri du chat syndrome
    • Overhauser J, Huang X, Gersh M, Wilson W, McMahon J, Bengtsson U, Rojas K, Meyer M, Wasmuth JJ: Molecular and phenotypic mapping of the short arm of chromosome 5: sublocalization of the critical region for the cri du chat syndrome. Hum Mol Genet 3:247-252 (1994).
    • (1994) Hum Mol Genet , vol.3 , pp. 247-252
    • Overhauser, J.1    Huang, X.2    Gersh, M.3    Wilson, W.4    McMahon, J.5    Bengtsson, U.6    Rojas, K.7    Meyer, M.8    Wasmuth, J.J.9
  • 18
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    • Interstitial deletion of the short arm of chromosome 5 in a mother and three children
    • Walker JL, Blank CE, Smith CE, Smith BAM: Interstitial deletion of the short arm of chromosome 5 in a mother and three children. Med Genet 21:465-467 (1984).
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    • Walker, J.L.1    Blank, C.E.2    Smith, C.E.3    Smith, B.A.M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.