• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

The genetics of the Alport syndrome.

作者信息

Tishler P V, Rosner B

出版信息

Birth Defects Orig Artic Ser. 1974;10(4):93-9.

PMID:4470916
Abstract

Analysis of the age at death of males with the Alport syndrome points out two distinct populations: one in which males die between ages 16 and 28 years, and the other in which males die between ages 33.5 and 52.2 years. Evidence suggests that these result from different genes of large effect. The segregation ratios of children of parents with Alport syndrome of either variety are generally consistent with an autosomal dominant mode of transmission, but the anomalous segregation from affected fathers remains to be explained.

摘要

相似文献

1
The genetics of the Alport syndrome.
Birth Defects Orig Artic Ser. 1974;10(4):93-9.
2
Autosomal dominant nephritis with renal failure of non-Alport type: clinical and molecular studies.非Alport型常染色体显性遗传性肾炎伴肾衰竭:临床与分子研究
Isr Med Assoc J. 2001 Jul;3(7):488-91.
3
Characterization of the peripheral retinopathy in X-linked and autosomal recessive Alport syndrome.X连锁和常染色体隐性遗传性Alport综合征的周边视网膜病变特征
Nephrol Dial Transplant. 2007 Jan;22(1):104-8. doi: 10.1093/ndt/gfl607. Epub 2006 Oct 27.
4
Absence of ocular manifestations in autosomal dominant Alport syndrome associated with haematological abnormalties.常染色体显性遗传性阿尔波特综合征伴血液学异常时无眼部表现。
Ophthalmic Genet. 2000 Dec;21(4):217-25.
5
[Collagen type IV nephropathy: from thin basement membrane nephropathy to Alport syndrome].[IV型胶原肾病:从薄基底膜肾病到Alport综合征]
Orv Hetil. 2005 Dec 25;146(52):2647-53.
6
Male-to-male transmission of X-linked Alport syndrome in a boy with a 47,XXY karyotype.核型为47,XXY的男孩中X连锁遗传性Alport综合征的男性间传播。
Eur J Hum Genet. 2005 Sep;13(9):1040-6. doi: 10.1038/sj.ejhg.5201452.
7
Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcome.常染色体显性遗传性奥尔波特综合征:COL4A4基因的分子分析及临床结果
Nephrol Dial Transplant. 2009 May;24(5):1464-71. doi: 10.1093/ndt/gfn681. Epub 2009 Jan 7.
8
[Alport syndrome in the light of current molecular genetics].从当前分子遗传学角度看奥尔波特综合征
Bull Mem Acad R Med Belg. 1996;151(10-11):447-52; discussion 452-3.
9
Alport syndrome. Molecular genetic aspects.奥尔波特综合征。分子遗传学方面。
Dan Med Bull. 2009 Aug;56(3):105-52.
10
Autosomal dominant Alport's syndrome: study of a large Tunisian family.常染色体显性遗传性阿尔波特综合征:对一个突尼斯大家族的研究。
Saudi J Kidney Dis Transpl. 2006 Sep;17(3):320-5.

引用本文的文献

1
X-linked inheritance of Alport syndrome: family P revisited.X连锁遗传性奥尔波特综合征:对家族P的再研究
Am J Hum Genet. 1983 Nov;35(6):1241-51.
2
Samoyed hereditary glomerulopathy (SHG). Evolution of splitting of glomerular capillary basement membranes.萨摩耶遗传性肾小球病(SHG)。肾小球毛细血管基底膜分裂的演变。
Am J Pathol. 1986 Dec;125(3):536-45.
3
Genetic heterogeneity among kindreds with Alport syndrome.伴有阿尔波特综合征的家族中的遗传异质性。
Am J Hum Genet. 1986 Jun;38(6):940-53.
4
Mapping of Alport syndrome to the long arm of the X chromosome.奥尔波特综合征基因定位到X染色体长臂
Am J Hum Genet. 1988 Feb;42(2):249-55.
5
Alport's syndrome or hereditary nephritis?阿尔波特综合征还是遗传性肾炎?
Pediatr Nephrol. 1987 Jul;1(3):438-40. doi: 10.1007/BF00849251.
6
Genetics of Alport's syndrome.阿尔波特综合征的遗传学
Pediatr Nephrol. 1987 Jul;1(3):436-8. doi: 10.1007/BF00849250.
7
Alport's syndrome as a cause of renal failure in Europe.
Pediatr Nephrol. 1987 Jul;1(3):411-5. doi: 10.1007/BF00849245.
8
Alport's syndrome.阿尔波特综合征
J Med Genet. 1988 Sep;25(9):623-7. doi: 10.1136/jmg.25.9.623.
9
Linkage studies in X-linked Alport's syndrome.X连锁遗传性肾炎的连锁研究。
Hum Genet. 1988 Dec;81(1):85-7. doi: 10.1007/BF00283736.
10
Phenotype recognition. Clinicians' contributions to molecular genetics.表型识别。临床医生对分子遗传学的贡献。
West J Med. 1992 May;156(5):491-4.