• 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

Second-trimester molecular diagnosis of a heterozygous 742 --> T (R248C) mutation in the FGFR3 gene in a thanatophoric dysplasia variant following suspicious ultrasound findings.

作者信息

Chen C P, Chern S R, Wang W, Wang T Y

出版信息

Ultrasound Obstet Gynecol. 2001 Mar;17(3):272-3. doi: 10.1046/j.1469-0705.2001.00377.x.

DOI:10.1046/j.1469-0705.2001.00377.x
PMID:11309183
Abstract
摘要

相似文献

1
Second-trimester molecular diagnosis of a heterozygous 742 --> T (R248C) mutation in the FGFR3 gene in a thanatophoric dysplasia variant following suspicious ultrasound findings.
Ultrasound Obstet Gynecol. 2001 Mar;17(3):272-3. doi: 10.1046/j.1469-0705.2001.00377.x.
2
Second trimester molecular diagnosis of a stop codon FGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findings.超声检查异常后，对Ⅰ型致死性骨发育不全胎儿进行孕中期成纤维细胞生长因子受体3（FGFR3）基因终止密码子突变的分子诊断。
Prenat Diagn. 2002 Aug;22(8):736-7. doi: 10.1002/pd.377.
3
FGFR3 gene mutations in Chinese cases of thanatophoric dysplasia type 1.中国1型致死性骨发育不全病例中的FGFR3基因突变
Fetal Diagn Ther. 2009;26(2):90-2. doi: 10.1159/000238120. Epub 2009 Sep 11.
4
Sonographic and molecular diagnosis of thanatophoric dysplasia type I at 18 weeks of gestation.妊娠18周时Ⅰ型致死性骨发育不全的超声和分子诊断
Prenat Diagn. 2000 Oct;20(10):835-7. doi: 10.1002/1097-0223(200010)20:10<835::aid-pd903>3.0.co;2-n.
5
An unusual radiological finding in thanatophoric dysplasia type 1 with common mutation of the fibroblast growth factor receptor-3 (FGFR3) gene (Arg248Cys).
Am J Med Genet. 1997 Jul 11;71(1):122-3.
6
Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia.FGFR3基因中R248C错义突变的体细胞和生殖系嵌合现象，导致一种与致死性骨发育不良不同的骨骼发育异常。
Am J Med Genet A. 2003 Jul 15;120A(2):157-68. doi: 10.1002/ajmg.a.20012.
7
Improved diagnosis of a common mutation (R248C) in the human growth factor receptor 3 (FGFR3) gene that causes type I Thanatophoric dysplasia.
Clin Biochem. 2003 Mar;36(2):151-3. doi: 10.1016/s0009-9120(02)00441-1.
8
Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3.一名胎儿患有FGFR3基因c.2419T>G（p.Ter807Gly）（X807G）突变的1型致死性骨发育不全的围产期影像学表现及分子遗传学分析
Taiwan J Obstet Gynecol. 2017 Feb;56(1):87-92. doi: 10.1016/j.tjog.2016.12.013.
9
Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.两名具有软骨发育不全表型的患者中出现Ⅰ型致死性骨发育不全（R248C）和软骨发育低下（N540K）突变。
Am J Med Genet. 2001 Dec 15;104(4):277-81. doi: 10.1002/ajmg.10092.
10
Thanatophoric dysplasia type I associated with increased nuchal translucency in the first trimester: Early prenatal diagnosis using combined ultrasonography and molecular biology.孕早期颈部透明带增厚合并Ⅰ型致死性骨发育不全：联合超声检查与分子生物学的早期产前诊断
Fetal Pediatr Pathol. 2010;29(5):314-22. doi: 10.3109/15513811003796938.

引用本文的文献

1
Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.超声检查发现长骨短小胎儿的外显子组测序：一项回顾性队列研究。
Front Genet. 2023 Feb 27;14:1032346. doi: 10.3389/fgene.2023.1032346. eCollection 2023.
2
Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia.全外显子组测序有助于胎儿骨骼发育异常的诊断。
Front Genet. 2021 Mar 10;12:599863. doi: 10.3389/fgene.2021.599863. eCollection 2021.