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Volumn 36, Issue 4, 1999, Pages 343-345

Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p

Author keywords

Chromosome 3; Deletion; Rett syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 3P; CYTOGENETICS; FEMALE; HUMAN; INTERSTITIAL CHROMOSOME DELETION; PRIORITY JOURNAL; RETT SYNDROME; SCHOOL CHILD;

EID: 0032927468     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (15)

References (10)
  • 1
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    • Rett syndrome: Clinical peculiarities and biological mysteries
    • Hagberg, B. Rett syndrome: clinical peculiarities and biological mysteries. Acta Paediatr Scand 1995;84:971-76.
    • (1995) Acta Paediatr Scand , vol.84 , pp. 971-976
    • Hagberg, B.1
  • 4
    • 0028111560 scopus 로고
    • Rett variants: A suggested model for inclusion criteria
    • Hagberg B, Skjeldal O. Rett variants: a suggested model for inclusion criteria. Pediatr Neurol 1994;11:5-11.
    • (1994) Pediatr Neurol , vol.11 , pp. 5-11
    • Hagberg, B.1    Skjeldal, O.2
  • 5
    • 0026342477 scopus 로고
    • An improved technique for chromosome preparation from human lymphocytes
    • Johannesson T, Holmquist D, Martinsson T, Wahlström J. An improved technique for chromosome preparation from human lymphocytes. Hereditas 1991;115:295-7.
    • (1991) Hereditas , vol.115 , pp. 295-297
    • Johannesson, T.1    Holmquist, D.2    Martinsson, T.3    Wahlström, J.4
  • 6
    • 0022446922 scopus 로고
    • Cytogenetic analysis using quantitative, high sensitivity fluorescence hybridization
    • Pinkel D, Straume T, Gray JW. Cytogenetic analysis using quantitative, high sensitivity fluorescence hybridization. Proc Natl Acad Sci USA 1986;83:2934-8.
    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 2934-2938
    • Pinkel, D.1    Straume, T.2    Gray, J.W.3
  • 7
    • 0030927820 scopus 로고    scopus 로고
    • Complex chromosome rearrangement involving chromosomes 1, 4 and 16 revealed by fluorescence in situ hybridization
    • Johannesson X, Ehlers S, Wahlström J. Complex chromosome rearrangement involving chromosomes 1, 4 and 16 revealed by fluorescence in situ hybridization. Clin Genet 1997;51:281-5.
    • (1997) Clin Genet , vol.51 , pp. 281-285
    • Johannesson, X.1    Ehlers, S.2    Wahlström, J.3
  • 8
    • 0028131707 scopus 로고
    • Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406
    • Martinsson T, Bjursell C, Stibler H, et al. Linkage of a locus for carbohydrate-deficient glycoprotein syndrome type I (CDG1) to chromosome 16p, and linkage disequilibrium to microsatellite marker D16S406. Hum Mol Genet 1994;3: 2037-42.
    • (1994) Hum Mol Genet , vol.3 , pp. 2037-2042
    • Martinsson, T.1    Bjursell, C.2    Stibler, H.3
  • 9
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Faure S, Fizames C, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996;380:152-4.
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Faure, S.2    Fizames, C.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.