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复杂遗传中的复发风险,特别关注幽门狭窄。

Recurrence risks in complex inheritance with special regard to pyloric stenosis.

作者信息

Lalouel J M, Morton N E, MacLean C J, Jackson J

出版信息

J Med Genet. 1977 Dec;14(6):408-14. doi: 10.1136/jmg.14.6.408.

Abstract

A large body of data on segregating families is used to generate specific recurrence risks conditional on sex and birth order for the best-fitting model of polygenes plus maternal effect. The method is general for diseases of complex inheritance, and lies within the competence of any serious genetic clinic. The question of whether consultees demand as much specificity should be subordinate to the question of whether counsellors are justified in providing less.

摘要

大量关于分离家族的数据被用于生成在性别和出生顺序条件下的特定复发风险,以用于多基因加母体效应的最佳拟合模型。该方法对于复杂遗传疾病具有通用性,且任何正规的遗传诊所都有能力使用。咨询者是否需要如此多的特异性这一问题,应从属于咨询师是否有理由提供更少特异性这一问题。

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引用本文的文献

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Infantile hypertrophic pyloric stenosis--genetics and syndromes.婴儿肥厚性幽门狭窄——遗传学和综合征。
Nat Rev Gastroenterol Hepatol. 2012 Nov;9(11):646-60. doi: 10.1038/nrgastro.2012.133. Epub 2012 Jul 10.

本文引用的文献

1
The familial incidence of congenital pyloric stenosis.先天性幽门狭窄的家族发病率。
Ann Eugen. 1951 Dec;16(3):260-81. doi: 10.1111/j.1469-1809.1951.tb02479.x.
4
Is the rate of hypertrophic pyloric stenosis declining?
Acta Paediatr (Stockh). 1960 Jul;49:530-5. doi: 10.1111/j.1651-2227.1960.tb07768.x.
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The inheritance of congenital pyloric stenosis.先天性幽门狭窄的遗传
Br Med Bull. 1961 Sep;17:251-4. doi: 10.1093/oxfordjournals.bmb.a069918.
6
Infantile pyloric stenosis.婴儿幽门狭窄
Arch Dis Child. 1955 Dec;30(154):493-6. doi: 10.1136/adc.30.154.493.
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Palpable contractile pyloric tumours in the newly born.新生儿可触及的收缩性幽门肿瘤。
Arch Dis Child. 1955 Dec;30(154):484-92. doi: 10.1136/adc.30.154.484.
8
Two-generation pyloric stenosis.两代人患幽门狭窄。
Lancet. 1954 Apr 10;266(6815):746-8. doi: 10.1016/s0140-6736(54)92713-0.
9
Congenital hypertrophic pyloric stenosis in twins.双胞胎先天性肥厚性幽门狭窄
Arch Dis Child. 1953 Oct;28(141):351-8. doi: 10.1136/adc.28.141.351.
10
Attitude survey in pregnancy.孕期态度调查
J Psychosom Res. 1968 Jun;12(1):83-4. doi: 10.1016/0022-3999(68)90012-3.

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