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Volumn 82, Issue 4, 1999, Pages 329-335

Calculating posterior cystic fibrosis risk with echogenic bowel and one characterized cystic fibrosis mutation: Avoiding pitfalls in the risk calculations

Author keywords

F508 mutation; Bayesian calculations; Conditional probability; Cystic fibrosis; Detectable mutations; Echogenic bowel; Risk calculations; Ultrasound findings

Indexed keywords

TRANSMEMBRANE CONDUCTANCE REGULATOR;

EID: 0033590696     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990212)82:4<329::AID-AJMG10>3.0.CO;2-D     Document Type: Article
Times cited : (17)

References (15)
  • 1
    • 0344761698 scopus 로고    scopus 로고
    • Echogenic bowel and one cystic fibrosis mutation in the fetus: Predictive of cystic fibrosis or coincidence?
    • Bosco AF, Lieberman ES, Norton ME. 1997. Echogenic bowel and one cystic fibrosis mutation in the fetus: predictive of cystic fibrosis or coincidence? (abstract) J Genet Couns 6:471-472.
    • (1997) J Genet Couns , vol.6 , pp. 471-472
    • Bosco, A.F.1    Lieberman, E.S.2    Norton, M.E.3
  • 2
    • 0027517995 scopus 로고
    • Correlation between genotype and phenotype in patients with cystic fibrosis
    • Cystic Fibrosis Genetic Analysis Consortium. 1993. Correlation between genotype and phenotype in patients with cystic fibrosis. N Engl J Med 329:1308-1313.
    • (1993) N Engl J Med , vol.329 , pp. 1308-1313
  • 3
    • 0028033069 scopus 로고
    • Population variation of common cystic fibrosis mutations
    • Cystic Fibrosis Genetic Analysis Consortium. 1994. Population variation of common cystic fibrosis mutations. Hum Mutat 4:167-177.
    • (1994) Hum Mutat , vol.4 , pp. 167-177
  • 4
    • 0007048621 scopus 로고    scopus 로고
    • June
    • Cystic Fibrosis Genetic Analysis Consortium. 1998. Cystic Fibrosis Mutation Data Base. http://www.genet.sickkids.on.ca/cftr/ (June).
    • (1998) Cystic Fibrosis Mutation Data Base
  • 5
    • 0026486282 scopus 로고
    • Sonographically detected hyperechoic fetal bowel: Significance and implications for pregnancy management
    • Dicke JM, Crane JP. 1992. Sonographically detected hyperechoic fetal bowel: Significance and implications for pregnancy management. Obstet Gynecol 80:778-782.
    • (1992) Obstet Gynecol , vol.80 , pp. 778-782
    • Dicke, J.M.1    Crane, J.P.2
  • 6
    • 0031802153 scopus 로고    scopus 로고
    • A simple, unified approach to Bayesian risk calculations
    • Hodge SE. 1998. A simple, unified approach to Bayesian risk calculations. J Genet Couns 7:235-261.
    • (1998) J Genet Couns , vol.7 , pp. 235-261
    • Hodge, S.E.1
  • 8
    • 0029885002 scopus 로고    scopus 로고
    • The usefulness of hCG and unconjugated oestriol in prenatal diagnosis of trisomy 18
    • Leporrier N, Herrou M, Herlicoviez M, Leymarie P. 1996. The usefulness of hCG and unconjugated oestriol in prenatal diagnosis of trisomy 18. Br J Obstet Gynaecol 103:335-338.
    • (1996) Br J Obstet Gynaecol , vol.103 , pp. 335-338
    • Leporrier, N.1    Herrou, M.2    Herlicoviez, M.3    Leymarie, P.4
  • 9
    • 85069427963 scopus 로고    scopus 로고
    • The risk of cystic fibrosis in fetuses with ultrasound evidence of echogenic bowel
    • Monaghan KG, Feldman GL. 1998. The risk of cystic fibrosis in fetuses with ultrasound evidence of echogenic bowel (abstract). Am J Hum Genet 63:A169.
    • (1998) Am J Hum Genet , vol.63
    • Monaghan, K.G.1    Feldman, G.L.2
  • 10
    • 85069428496 scopus 로고    scopus 로고
    • NIH Consensus Statement. National Institutes of Health, Office of the Director
    • NIH Consensus Statement. 1997. Genetic testing for cystic fibrosis. Vol. 15, No. 4. National Institutes of Health, Office of the Director.
    • (1997) Genetic Testing for Cystic Fibrosis , vol.15 , Issue.4
  • 11
    • 0031813241 scopus 로고    scopus 로고
    • Choroid plexus cysts and aneuploidy
    • Peleg D, Yankowitz J. 1998. Choroid plexus cysts and aneuploidy. J Med Genet 35:554-557.
    • (1998) J Med Genet , vol.35 , pp. 554-557
    • Peleg, D.1    Yankowitz, J.2
  • 14
    • 0030765634 scopus 로고    scopus 로고
    • Congenital absence of the vas deferens: Incomplete penetrance of cystic fibrosis gene mutations
    • Shin D, Gilbert F, Goldstein M, Schlegel PN. 1997. Congenital absence of the vas deferens: incomplete penetrance of cystic fibrosis gene mutations. J Urol 158:1794-1798.
    • (1997) J Urol , vol.158 , pp. 1794-1798
    • Shin, D.1    Gilbert, F.2    Goldstein, M.3    Schlegel, P.N.4
  • 15
    • 0030778815 scopus 로고    scopus 로고
    • Cystic fibrosis mutation frequencies in upstate New York
    • Shrimpton AE, Borowitz D, Swender P. 1997. Cystic fibrosis mutation frequencies in upstate New York. Hum Mutat 10:436-442.
    • (1997) Hum Mutat , vol.10 , pp. 436-442
    • Shrimpton, A.E.1    Borowitz, D.2    Swender, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.