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Volumn 112, Issue 1, 2002, Pages 23-27

Subtelomeric FISH uncovers trisomy 14q32: Lessons for imprinted regions, cryptic rearrangements and variant acrocentric short arms

Author keywords

Acrocentric chromosome; Chromosome 14; Chromosome 22; DLK1; Imprinting; MEG3; P arm variant; Telomere; Telomere FISH; Trisomy 14q; Uniparental disomy

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 14Q; CHROMOSOME 22; CHROMOSOME ANALYSIS; CYTOGENETICS; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION; GENE SEQUENCE; GENOME IMPRINTING; HUMAN; PHENOTYPE; PRIORITY JOURNAL; TELOMERE; TRISOMY; TRISOMY 14; UNIPARENTAL DISOMY; CHROMOSOME 14; CHROMOSOME BANDING PATTERN; GENETICS; METHODOLOGY; MULTIPLE MALFORMATION SYNDROME; PRESCHOOL CHILD;

EID: 0037105005     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10703     Document Type: Article
Times cited : (19)

References (32)
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    • Engel, E.1
  • 16
    • 0033613977 scopus 로고    scopus 로고
    • Abnormal phenotypes in uniparental disomy (UPD): Fundamental aspects and a critical review with bibliography of UPD other than 15
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    • Kotzot, D.1
  • 17
  • 27
    • 0034726689 scopus 로고    scopus 로고
    • Search for imprinted regions on chromosome 14: Comparison of maternal and paternal UPD cases with cases of chromosome 14 deletion
    • (2000) Am J Med Genet , vol.93 , pp. 381-387
    • Sutton, V.R.1    Shaffer, L.G.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.