메뉴 건너뛰기




Volumn 38, Issue 8, 2001, Pages 497-507

Complex and segmental uniparental disomy (UPD): Review and lessons from rare chromosomal complements

Author keywords

Genomic imprinting; Isochromosome; Robertsonian translocation; Uniparental disomy (UPD)

Indexed keywords

ACROCENTRIC CHROMOSOME; ADULT; AUTOSOMAL RECESSIVE INHERITANCE; CHROMOSOME REARRANGEMENT; CHROMOSOME SEGREGATION; CLINICAL ARTICLE; FEMALE; FERTILIZATION; GENETIC COMPLEMENTATION; GENETIC COUNSELING; GENOME IMPRINTING; HUMAN; ISOCHROMOSOME; KARYOTYPE 47,XYY; KARYOTYPING; MALE; PRIORITY JOURNAL; REVIEW; ROBERTSONIAN CHROMOSOME TRANSLOCATION; UNIPARENTAL DISOMY;

EID: 0034890364     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.38.8.497     Document Type: Review
Times cited : (119)

References (111)
  • 1
    • 0018939994 scopus 로고
    • A new genetic concept: Uniparental disomy and its potential effect, isodisomy
    • (1980) Am J Med Genet , vol.6 , pp. 137-143
    • Engel, E.1
  • 2
    • 0034098812 scopus 로고    scopus 로고
    • Mechanisms leading to uniparental disomy and their clinical consequences
    • (2000) BioEssays , vol.22 , pp. 452-459
    • Robinson, W.P.1
  • 4
    • 0033613977 scopus 로고    scopus 로고
    • Abnormal phenotypes in uniparental disomy (UPD) - Fundamental aspects and a critical review with bibliography of UPD other than 15
    • (1999) Am J Med Genet , vol.82 , pp. 265-274
    • Kotzot, D.1
  • 108
    • 0035013623 scopus 로고    scopus 로고
    • Paternal uniparental isodisomy of chromosome 20q - And the resulting changes in GNASI methylation - As a plausible cause of pseudohypoparathyroidism
    • (2001) Am J Hum Genet , vol.68 , pp. 1283-1289
    • Bastepe, M.1    Lane, A.H.2    Jüppner, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.