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Volumn 3, Issue 3, 2001, Pages 206-211

American College of Medical Genetics Statement on Diagnostic Testing for Uniparental Disomy

Author keywords

[No Author keywords available]

Indexed keywords

BECKWITH WIEDEMANN SYNDROME; CHROMOSOME DISORDER; CLINICAL FEATURE; CLINICAL TRIAL; DIABETES MELLITUS; DIAGNOSTIC PROCEDURE; DISEASE COURSE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC MARKER; HAPPY PUPPET SYNDROME; HUMAN; MONOSOMY; PRADER WILLI SYNDROME; REVIEW; RISK ASSESSMENT; ROBERTSONIAN CHROMOSOME TRANSLOCATION; SILVER RUSSELL SYNDROME; TRISOMY; UNIPARENTAL DISOMY;

EID: 0035746379     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-200105000-00011     Document Type: Review
Times cited : (95)

References (44)
  • 1
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    • A new genetic concept: Uniparental disomy and its potential effect, isodisomy
    • (1980) Am J Med Genet , vol.6 , pp. 137-143
    • Engel, E.1
  • 9
    • 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
  • 13
    • 0032932423 scopus 로고    scopus 로고
    • Trisomy 15 CPM: Probable origins, pregnancy outcome and risk for fetal UPD
    • (1999) Prenat Diagn , vol.19 , pp. 29-35
  • 24
    • 0000771975 scopus 로고
    • A syndrome of intrauterine dwarfism recognizable at birth with craniofacial dysostosis, disproportionate short arms and other anomalies
    • (1954) Proc R Soc Med , vol.47 , pp. 1040-1044
    • Russell, A.1
  • 41
    • 0034726689 scopus 로고    scopus 로고
    • A 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.