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相似文献

1
The quality of genetic counselling in osteogenesis imperfecta.成骨不全症的遗传咨询质量。
Postgrad Med J. 1981 Jul;57(669):416-8. doi: 10.1136/pgmj.57.669.416.
2
Osteogenesis imperfecta.
Nurs Times. 1982;78(14):586-90.
3
Genetic counselling in perinatally lethal and severe progressively deforming osteogenesis imperfecta.
Ann N Y Acad Sci. 1988;543:142-56. doi: 10.1111/j.1749-6632.1988.tb55327.x.
4
Perspectives on the evolution of genetic counselling: Experience over three decades in a family with recurrent lethal osteogenesis imperfecta.遗传咨询的发展历程:一个患有复发性致死性成骨不全症家族三十年的经验
Mol Genet Metab. 2020 Sep-Oct;131(1-2):114-115. doi: 10.1016/j.ymgme.2020.06.012. Epub 2020 Jul 8.
5
Osteogenesis imperfecta. A study of 10 cases.成骨不全症。10例病例研究。
Ital J Orthop Traumatol. 1985 Mar;11(1):51-9.
6
Genetic counselling and prenatal diagnosis of osteogenesis imperfecta caused by paternal mosaicism.父源性嵌合体导致的成骨不全症的遗传咨询与产前诊断
Prenat Diagn. 1996 Nov;16(11):1032-8. doi: 10.1002/(SICI)1097-0223(199611)16:11<1032::AID-PD984>3.0.CO;2-9.
7
Heterogeneity of osteogenesis imperfecta congenita.先天性成骨不全的异质性。
Lancet. 1980 Apr 12;1(8172):821.
8
Genetic counseling in osteogenesis imperfecta.成骨不全症的遗传咨询
Clin Orthop Relat Res. 1981 Sep(159):36-41.
9
Osteogenesis imperfecta and odontogenesis imperfecta: clinical and genetic aspects in eighteen families.成骨不全与牙发育不全:18个家庭的临床与遗传学特征
J Pediatr. 1960 Feb;56:234-45. doi: 10.1016/s0022-3476(60)80122-9.
10
[News in osteogenesis imperfecta: from research to clinical management].[成骨不全症的最新进展:从研究到临床管理]
Rev Med Suisse. 2015 Mar 18;11(466):657-8, 660-2.

引用本文的文献

1
Child abuse and osteogenesis imperfecta.虐待儿童与成骨不全症。
Br Med J (Clin Res Ed). 1987 Oct 31;295(6606):1082-3. doi: 10.1136/bmj.295.6606.1082-a.

本文引用的文献

1
Heterogeneity of osteogenesis imperfecta congenita.先天性成骨不全的异质性。
Lancet. 1980 Apr 12;1(8172):820-1. doi: 10.1016/s0140-6736(80)91313-6.
2
Recurrence risk in osteogenesis imperfecta congenita.先天性成骨不全的复发风险。
Lancet. 1980 Feb 23;1(8165):432. doi: 10.1016/s0140-6736(80)90988-5.
3
Communications in an out-patient setting.门诊环境中的沟通。
Br J Soc Clin Psychol. 1965 Jun;4(2):114-6. doi: 10.1111/j.2044-8260.1965.tb00449.x.
4
Quantitative study of doctor-patient communication.医患沟通的定量研究
Q J Med. 1969 Apr;38(150):183-94.
5
Osteogenesis imperfecta. A clinical and biochemical study of a generalized connective tissue disorder.成骨不全症。一种全身性结缔组织疾病的临床与生化研究。
Q J Med. 1975 Oct;44(176):555-73.
6
Genetic heterogeneity in osteogenesis imperfecta.成骨不全症中的遗传异质性。
J Med Genet. 1979 Apr;16(2):101-16. doi: 10.1136/jmg.16.2.101.

成骨不全症的遗传咨询质量。

The quality of genetic counselling in osteogenesis imperfecta.

作者信息

Paterson C R, Mowat E

出版信息

Postgrad Med J. 1981 Jul;57(669):416-8. doi: 10.1136/pgmj.57.669.416.

DOI:10.1136/pgmj.57.669.416
PMID:7312735
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2424979/
Abstract

A survey is reported of the genetic advice given to 272 families with osteogenesis imperfecta. An appreciable number of families were not given advice by anyone even though they had asked for it, and only one quarter of the families had been referred to a clinical genetic specialist. Overall approximately one third of the information recollected as having been received was incorrect but genetic specialists were clearly more successful than other doctors.

摘要

本文报道了一项针对272个成骨不全家庭所提供的遗传咨询的调查。相当数量的家庭尽管寻求了遗传咨询,但并未得到任何人的建议,只有四分之一的家庭被转介给临床遗传专家。总体而言,回忆所获得的信息中约有三分之一是错误的,但遗传专家显然比其他医生更成功。