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Volumn 161, Issue 6, 2002, Pages 305-312

Uniparental disomy: Clinical indications for testing in growth retardation

Author keywords

Genomic imprinting; Growth retardation; Intrauterine growth retardation; Uniparental disomy

Indexed keywords

ALLELE; BECKWITH WIEDEMANN SYNDROME; CHROMOSOME 14; CHROMOSOME 16; CHROMOSOME 2; CHROMOSOME 20; CHROMOSOME 6; CHROMOSOME 7; CHROMOSOME 9; CLINICAL FEATURE; DIABETES MELLITUS; DISEASE ASSOCIATION; GENETIC SCREENING; GENOME IMPRINTING; GROWTH RETARDATION; HAPPY PUPPET SYNDROME; HUMAN; HUMAN GENETICS; INTRAUTERINE GROWTH RETARDATION; PATHOGENESIS; PHENOTYPE; PRADER WILLI SYNDROME; PRIORITY JOURNAL; REVIEW; SILVER RUSSELL SYNDROME; TRISOMY; TRISOMY 16; TRISOMY 9; UNIPARENTAL DISOMY;

EID: 0036258112     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-002-0916-x     Document Type: Review
Times cited : (26)

References (28)
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    • Engel, E.1
  • 14
    • 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
  • 22
    • 0000771975 scopus 로고
    • A syndrome of "intra-uterine" dwarfism recognisable at birth with craniofacial dysosotosis, disproportionally short arms and other anomalies
    • (1954) Proc R Soc Med , vol.47 , pp. 1040-1044
    • Russell, A.1
  • 26
    • 0034726689 scopus 로고    scopus 로고
    • Search for imprinted regions on chromosoe 14: Comparison of maternal and paternal UPD cases with cases of chromsome 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.