First-trimester molecular prenatal diagnosis of a thanatophoric dysplasia.
作者信息
Delahaye Sophie, Rosenblatt Jonathan, Costa Jean-Marc, Bazin Anne, Bénifla Jean-Louis, Jouannic Jean-Marie
出版信息
Prenat Diagn. 2010 Dec;30(12-13):1222-3. doi: 10.1002/pd.2638.
DOI:10.1002/pd.2638
PMID:20949643
Abstract
摘要
相似文献
1
First-trimester molecular prenatal diagnosis of a thanatophoric dysplasia.孕早期致死性骨发育不全的分子产前诊断
Prenat Diagn. 2010 Dec;30(12-13):1222-3. doi: 10.1002/pd.2638.
2
Early ultrasound suspect of thanatophoric dysplasia followed by first trimester molecular diagnosis.早期超声怀疑致死性骨发育不全，随后进行孕早期分子诊断。
Am J Med Genet A. 2011 Jul;155A(7):1756-8. doi: 10.1002/ajmg.a.34052. Epub 2011 Jun 10.
3
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.
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
Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1.孕早期颈部透明带增厚与1型致死性骨发育不良相关。
J Obstet Gynaecol. 2015;35(7):685-7. doi: 10.3109/01443615.2015.1006593. Epub 2015 Feb 11.
6
Multiplex PCR in noninvasive prenatal diagnosis for FGFR3-related disorders.用于FGFR3相关疾病无创产前诊断的多重PCR技术
Congenit Anom (Kyoto). 2019 Jan;59(1):4-10. doi: 10.1111/cga.12278. Epub 2018 Apr 15.
7
Rapid detection of common mutations of the FGFR3 gene causing thanatophoric dysplasia type I: two case reports.快速检测导致Ⅰ型致死性骨发育不全的FGFR3基因常见突变：两例报告
Fetal Pediatr Pathol. 2012 Jun;31(3):128-33. doi: 10.3109/15513815.2011.648720. Epub 2012 Mar 13.
8
Prenatal diagnosis of thanatophoric dysplasia by 3-D helical computed tomography and genetic analysis.
Fetal Diagn Ther. 2008;24(4):420-4. doi: 10.1159/000170092. Epub 2008 Nov 6.
9
A case of thanatophoric dysplasia: the early prenatal 2D and 3D sonographic findings and molecular confirmation of diagnosis.一例致死性骨发育不全：产前早期二维和三维超声检查结果及诊断的分子确认
Fetal Diagn Ther. 2008;24(1):71-3. doi: 10.1159/000132411. Epub 2008 May 27.
10
Thanatophoric dysplasia: a case report.致死性骨发育不良：一例报告。
Pan Afr Med J. 2020 Nov 5;37:220. doi: 10.11604/pamj.2020.37.220.21211. eCollection 2020.
引用本文的文献
1
Molecular Analysis of a Case of Thanatophoric Dysplasia Reveals Two de novo FGFR3 Missense Mutations located in cis.一例致死性骨发育不全病例的分子分析揭示了两个位于顺式的新生FGFR3错义突变。
Sultan Qaboos Univ Med J. 2013 Feb;13(1):80-7. doi: 10.12816/0003199. Epub 2013 Feb 27.
2
Safe, accurate, prenatal diagnosis of thanatophoric dysplasia using ultrasound and free fetal DNA.安全、准确的超声联合游离胎儿 DNA 进行致死性骨发育不良的产前诊断。
Prenat Diagn. 2013 May;33(5):416-23. doi: 10.1002/pd.4066. Epub 2013 Feb 14.
Zotero 插件