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Familial atrioventricular septal defect: possible genetic mechanism.

作者信息

Digilio M C, Marino B, Giannotti A, Dallapiccola B

出版信息

Br Heart J. 1994 Sep;72(3):301. doi: 10.1136/hrt.72.3.301.

DOI:10.1136/hrt.72.3.301
PMID:7946792
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1025529/
Abstract
摘要

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本文引用的文献

1
Familial atrioventricular septal defect: possible genetic mechanisms.家族性房室间隔缺损：可能的遗传机制
Br Heart J. 1994 Jan;71(1):79-81. doi: 10.1136/hrt.71.1.79.
2
A large, dominant pedigree of atrioventricular septal defect (AVSD): exclusion from the Down syndrome critical region on chromosome 21.一个大型的、具有主导性的房室间隔缺损（AVSD）家系：排除21号染色体上的唐氏综合征关键区域。
Am J Hum Genet. 1993 Dec;53(6):1262-8.
3
Risk of congenital heart defects in relatives of patients with atrioventricular canal.
Am J Dis Child. 1993 Dec;147(12):1295-7. doi: 10.1001/archpedi.1993.02160360037013.
4
Linkage analysis of autosomal dominant atrioventricular canal defects: exclusion of chromosome 21.
Hum Genet. 1994 Feb;93(2):103-8. doi: 10.1007/BF00210591.
5
Isolated anterior mitral cleft. Two dimensional echocardiographic assessment and differentiation from "clefts" associated with atrioventricular septal defect.孤立性二尖瓣前叶裂。二维超声心动图评估及与房室间隔缺损相关“裂”的鉴别。
Br Heart J. 1982 Aug;48(2):109-16. doi: 10.1136/hrt.48.2.109.
6
Two-dimensional echocardiography in detection of endocardial cushion defect in families.
Am J Cardiol. 1985 Jun 1;55(13 Pt 1):1649-52. doi: 10.1016/0002-9149(85)90998-1.
7
Prevalence of left-sided obstructive lesions in patients with atrioventricular canal without Down's syndrome.
J Thorac Cardiovasc Surg. 1986 Mar;91(3):467-9.
8
Atrioventricular canal in Down syndrome. Prevalence of associated cardiac malformations compared with patients without Down syndrome.
Am J Dis Child. 1990 Oct;144(10):1120-2. doi: 10.1001/archpedi.1990.02150340066025.
9
Endocardial cushion defect: further studies of "isolated" versus "syndromic" occurrence.心内膜垫缺损：“孤立性”与“综合征性”发生情况的进一步研究
Am J Med Genet. 1992 Jun 1;43(3):569-75. doi: 10.1002/ajmg.1320430313.