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Journal of Medical Genetics
Volumn 37, Issue 2, 2000, Pages 125-127
5p14 deletion associated with microcephaly and seizures
Author keywords

Chromosome 5; Cri du chat syndrome; Fluorescence in situ hybridisation; Interstitial deletion
Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 5P; CHROMOSOME DELETION; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; MALE; MICROCEPHALY; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE;
EID: 0034097256     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.2.125     Document Type: Article
Times cited : (18)
References (12)
  • 1
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  • 2
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    • Clinical heterogenity in 80 home-reared children with cri-du-chat syndrome
    • Wilkins LE, Brown JA, Nance WE, et al. Clinical heterogenity in 80 home-reared children with cri-du-chat syndrome. J Pediatr 1983;102:528-33.
    • (1983) J Pediatr , vol.102 , pp. 528-533
    • Wilkins, L.E.1    Brown, J.A.2    Nance, W.E.3
  • 3
    • 0017898839 scopus 로고
    • Cytologic observations in 35 individuals with a 5p- Karyotype
    • Niebuhr E. Cytologic observations in 35 individuals with a 5p- karyotype. Hum Genet 1978;42:143-56.
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    • Niebuhr, E.1
  • 4
    • 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, et al. 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 1994;3:247-52.
    • (1994) Hum Mol Genet , vol.3 , pp. 247-252
    • Overhauser, J.1    Huang, X.2    Gersh, M.3
  • 5
    • 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 1995;56:1162-72.
    • (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
  • 6
    • 0029028370 scopus 로고
    • Evidence for a distinct region causing a cat-like cry in patients with 5p deletions
    • Gersh M, Goodart SA, Pasztor LM, et al. Evidence for a distinct region causing a cat-like cry in patients with 5p deletions. Am J Hum Genet 1995;56:1404-10.
    • (1995) Am J Hum Genet , vol.56 , pp. 1404-1410
    • Gersh, M.1    Goodart, S.A.2    Pasztor, L.M.3
  • 7
    • 0023031758 scopus 로고
    • Molecular analysis of an unbalanced deletion of chromosome 5p that produces no phenotype
    • Overhauser J, Golbus MS, Schonberg SA, Wasmuth JJ. Molecular analysis of an unbalanced deletion of chromosome 5p that produces no phenotype. Am J Hum Genet 1986;39:1-10.
    • (1986) Am J Hum Genet , vol.39 , pp. 1-10
    • Overhauser, J.1    Golbus, M.S.2    Schonberg, S.A.3    Wasmuth, J.J.4
  • 8
    • 0017374719 scopus 로고
    • Localization of sequences specifying messenger RNA to light-staining G-bands of human chromosomes
    • Yunis JJ, Kuo HT, Saunders GF. Localization of sequences specifying messenger RNA to light-staining G-bands of human chromosomes. Chromosoma 1977;61:335-44.
    • (1977) Chromosoma , vol.61 , pp. 335-344
    • Yunis, J.J.1    Kuo, H.T.2    Saunders, G.F.3
  • 9
    • 0021683727 scopus 로고
    • Interstitial deletion of the short arm of chromosome 5 in a mother and three children
    • Walker JL, Blank CE, Smith BAM. Interstitial deletion of the short arm of chromosome 5 in a mother and three children. J Med Genet 1984;21:465-7.
    • (1984) J Med Genet , vol.21 , pp. 465-467
    • Walker, J.L.1    Blank, C.E.2    Smith, B.A.M.3
  • 10
    • 0026758996 scopus 로고
    • Clinical phenotype and molecular analysis of a 3 generation family with an interstitial deletion of the short arm of chromosome 5
    • Keppen LA, Gollin SM, Edwards D, Sawyar J, Wilson W, Overhauser J. Clinical phenotype and molecular analysis of a 3 generation family with an interstitial deletion of the short arm of chromosome 5. Am J Med Genet 1992;44:356-60.
    • (1992) Am J Med Genet , vol.44 , pp. 356-360
    • Keppen, L.A.1    Gollin, S.M.2    Edwards, D.3    Sawyar, J.4    Wilson, W.5    Overhauser, J.6
  • 11
    • 0032697451 scopus 로고    scopus 로고
    • FISH analysis of terminal deletions in patients diagnosed with cri-du-chat syndrome
    • in press
    • Marinescu RC, Johnson E, Grady D, Overhauser J. FISH analysis of terminal deletions in patients diagnosed with cri-du-chat syndrome. Clin Genet (in press).
    • Clin Genet
    • Marinescu, R.C.1    Johnson, E.2    Grady, D.3    Overhauser, J.4
  • 12
    • 0025164586 scopus 로고
    • Parental origin of chromosome 5 deletions in cri du chat syndrome
    • Overhauser J, McMahon J, Oberlender S, et al. Parental origin of chromosome 5 deletions in cri du chat syndrome. Am J Med Genet 1990;37:83-6.
    • (1990) Am J Med Genet , vol.37 , pp. 83-86
    • Overhauser, J.1    McMahon, J.2    Oberlender, S.3

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.