一些常见先天性畸形的遗传咨询风险表。
Risk tables for genetic counselling in some common congenital malformations.
作者信息
Bonaiti-Pellié C, Smith C
出版信息
J Med Genet. 1974 Dec;11(4):374-7. doi: 10.1136/jmg.11.4.374.
Abstract
Tables of estimated recurrence risks for some 180 specific family histories are presented for three common congenital malformations. It is hoped that the tables will provide standards and be useful in genetic counselling.
摘要
针对三种常见先天性畸形，列出了约180种特定家族病史的估计复发风险表。希望这些表格能提供标准并在遗传咨询中发挥作用。
相似文献
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Risk tables for genetic counselling in some common congenital malformations.一些常见先天性畸形的遗传咨询风险表。
J Med Genet. 1974 Dec;11(4):374-7. doi: 10.1136/jmg.11.4.374.
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引用本文的文献
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Bayesian analysis and risk assessment in genetic counseling and testing.遗传咨询与检测中的贝叶斯分析和风险评估。
J Mol Diagn. 2004 Feb;6(1):1-9. doi: 10.1016/S1525-1578(10)60484-9.
2
Nonsyndromic cleft lip and palate: no evidence of linkage to HLA or factor 13A.非综合征性唇腭裂：无与HLA或因子13A连锁的证据。
Am J Hum Genet. 1993 Jun;52(6):1230-3.
3
The William Allan Memorial Award Address: evolution of a palatable multifactorial threshold model.威廉·艾伦纪念奖演讲：一个易于接受的多因素阈值模型的演变
Am J Hum Genet. 1980 Nov;32(6):796-813.
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Management of children with cleft lip and palate.唇腭裂患儿的管理
Can Med Assoc J. 1980 Jan 12;122(1):19-24.
5
Theoretical recurrence risks for cleft lip derived from a population of consecutive newborns.来自连续新生儿群体的唇裂理论复发风险。
J Med Genet. 1988 Apr;25(4):243-6. doi: 10.1136/jmg.25.4.243.
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Genetic counselling: a tool for the prevention of some abnormal pregnancies.遗传咨询：预防某些异常妊娠的一种手段。
J Clin Pathol Suppl (R Coll Pathol). 1976;10:145-9.
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Genetic analyses of pyloric stenosis suggesting a specific maternal effect.幽门狭窄的基因分析提示一种特定的母体效应。
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本文引用的文献
1
Genetics of common disorders.常见疾病的遗传学
Br Med Bull. 1969 Jan;25(1):52-7. doi: 10.1093/oxfordjournals.bmb.a070671.
2
Inheritance of congenital pyloric stenosis.先天性幽门狭窄的遗传
J Med Genet. 1969 Sep;6(3):233-54. doi: 10.1136/jmg.6.3.233.
3
The inheritance of common congenital malformations.常见先天性畸形的遗传方式。
Prog Med Genet. 1965;4:59-84.
4
Discriminating between different modes of inheritance in genetic disease.区分遗传病的不同遗传模式。
Clin Genet. 1971;2(5):303-14. doi: 10.1111/j.1399-0004.1971.tb00291.x.
5
Recurrence risks for multifactorial inheritance.多因素遗传的复发风险
Am J Hum Genet. 1971 Nov;23(6):578-88.
6
The use of multiple thresholds in determining the mode of transmission of semi-continuous traits.
Ann Hum Genet. 1972 Nov;36(2):163-84. doi: 10.1111/j.1469-1809.1972.tb00767.x.
7
Spina bifida and anencephalus in greater London.大伦敦地区的脊柱裂和无脑儿情况。
J Med Genet. 1973 Sep;10(3):209-34. doi: 10.1136/jmg.10.3.209.
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