• 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

Clinical variability in osteogenesis imperfecta-variable expressivity or genetic heterogeneity.

作者信息

Sillence D O, Rimoin D L, Danks D M

出版信息

Birth Defects Orig Artic Ser. 1979;15(5B):113-29.

PMID:393318
Abstract
摘要

相似文献

1
Clinical variability in osteogenesis imperfecta-variable expressivity or genetic heterogeneity.
Birth Defects Orig Artic Ser. 1979;15(5B):113-29.
2
[A case of Lobstein's osteopsathyrosis].[一例洛布斯坦氏骨脆症病例]
Oftalmologia. 1995 Jul-Sep;39(3):235-8.
3
Osteogenesis imperfecta: an expanding panorama of variants.成骨不全症：不断扩展的变异全景。
Clin Orthop Relat Res. 1981 Sep(159):11-25.
4
[Genetic heterogeneity of osteogenesis imperfecta. Study of 6 cases].[成骨不全的遗传异质性。6例研究]
An Esp Pediatr. 1986 Sep;25(3):154-60.
5
[Osteogenesis imperfecta, but which one?].
Pediatrie. 1990;45(12):839-43.
6
[Hereditarily transmitted pathologic fragilitas ossium].[遗传性病理性骨脆症]
Tsitol Genet. 1974 Jan-Feb;8(1):20-3.
7
Linkage analysis in dominantly inherited osteogenesis imperfecta.显性遗传型成骨不全的连锁分析
Am J Med Genet. 1993 Jan 15;45(2):212-6. doi: 10.1002/ajmg.1320450212.
8
Osteogenesis imperfecta.
Annu Rev Med. 1992;43:269-82. doi: 10.1146/annurev.me.43.020192.001413.
9
Deficient expression of the small proteoglycan decorin in a case of severe/lethal osteogenesis imperfecta.
Am J Med Genet. 1996 May 3;63(1):161-6. doi: 10.1002/(SICI)1096-8628(19960503)63:1<161::AID-AJMG28>3.0.CO;2-L.
10
[Osteogenesis imperfecta; more than only many fractures].成骨不全症；不止是多发骨折
Ned Tijdschr Geneeskd. 1991 Jan 5;135(1):30.

引用本文的文献

1
Moderately severe osteogenesis imperfecta-like osteochondrodysplasia associated with heterozygous variants in both and .与 和 中的杂合变异相关的中度严重成骨不全样骨软骨发育不良
JBMR Plus. 2025 Jul 22;9(9):ziaf111. doi: 10.1093/jbmrpl/ziaf111. eCollection 2025 Sep.
2
Lung function in adult patients with osteogenesis imperfecta: a cohort study.成骨不全成年患者的肺功能：一项队列研究。
Orphanet J Rare Dis. 2024 Dec 4;19(1):455. doi: 10.1186/s13023-024-03452-y.
3
A new Col1a1 conditional knock-in mouse model to study osteogenesis imperfecta.
一种用于研究成骨不全症的新型Col1a1条件性敲入小鼠模型。
J Bone Miner Res. 2024 Dec 31;40(1):114-124. doi: 10.1093/jbmr/zjae189.
4
Analyses of Osteogenesis Imperfecta in South Korea Using the Nationwide Health Insurance Service Claim Data: A Propensity Score-Matched Study.利用全国健康保险服务索赔数据对韩国成骨不全症进行的分析：一项倾向评分匹配研究。
Calcif Tissue Int. 2024 Dec;115(6):915-922. doi: 10.1007/s00223-024-01274-5. Epub 2024 Aug 16.
5
A standard set of outcome measures for the comprehensive assessment of oral health and occlusion in individuals with osteogenesis imperfecta.用于评估成骨不全症患者口腔健康和咬合的标准综合评估指标集。
Orphanet J Rare Dis. 2024 Aug 13;19(1):294. doi: 10.1186/s13023-024-03308-5.
6
Multi-omics analyses reveal aberrant differentiation trajectory with WNT1 loss-of-function in type XV osteogenesis imperfecta.多组学分析揭示了 WNT1 功能丧失型 XV 型成骨不全症中异常的分化轨迹。
J Bone Miner Res. 2024 Sep 2;39(9):1253-1267. doi: 10.1093/jbmr/zjae123.
7
A Dyadic Nosology for Osteogenesis Imperfecta and Bone Fragility Syndromes 2024.骨发育不全和骨脆弱综合征的对偶分类学 2024 年版
Calcif Tissue Int. 2024 Dec;115(6):873-890. doi: 10.1007/s00223-024-01248-7. Epub 2024 Jun 28.
8
Unraveling the Link of Altered TGFβ Signaling with Scoliotic Vertebral Malformations in Osteogenesis Imperfecta: A Comprehensive Review.揭示成骨不全症中转化生长因子β信号通路改变与脊柱侧凸椎体畸形的关联：一项综述
J Clin Med. 2024 Jun 14;13(12):3484. doi: 10.3390/jcm13123484.
9
Metabolic Bone Diseases Affecting Tooth Eruption: A Narrative Review.影响牙齿萌出的代谢性骨病：一项叙述性综述
Children (Basel). 2024 Jun 20;11(6):748. doi: 10.3390/children11060748.
10
A Retrospective Study of the Presentation, Diagnosis, Management, and Outcomes of 27 Patients with Osteogenesis Imperfecta at a Single Center in Türkiye.土耳其某单一中心 27 例成骨不全症患者的临床表现、诊断、治疗和结局的回顾性研究。
Med Sci Monit. 2024 May 29;30:e944364. doi: 10.12659/MSM.944364.