首页> 外文OA文献 >Detection of maternal transmission of a splicing mutation in the TSC2 gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimicking congenital cystic adenomatoid malformation of the lung and cerebral tubers and awareness of a family history of maternal epilepsy

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Detection of maternal transmission of a splicing mutation in the TSC2 gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimicking congenital cystic adenomatoid malformation of the lung and cerebral tubers and awareness of a family history of maternal epilepsy

机译：产前诊断胎儿先天性横纹肌瘤，模仿先天性肺和脑块状囊性腺瘤畸形，并了解母体癫痫家族史后，检测TSC2基因剪接突变的母体传播

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Chen Chih-Ping; Chang Tung-Yao; Guo Wan-Yuo; Su Yi-Ning; Chen Yi-Yung; Chern Schu-Rern; Su Jun-Wei; Wang Wayseen;
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1. Detection of maternal transmission of a splicing mutation in the TSC2 gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimicking congenital cystic adenomatoid malformation of the lung and cerebral tubers and awareness of a family history of maternal epilepsy [J] . ChenC.-P., ChangT.-Y., GuoW.-Y., Taiwanese journal of obstetrics and gynecology . 2013,第3期

机译：产前诊断胎儿先天性横纹肌瘤，模仿先天性肺和脑块状囊性腺瘤畸形，并了解母体癫痫的家族史，并检测母体TSC2基因剪接突变的传播
2. Detection of maternal transmission of a splicing mutation in the TSC2 gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimicking congenital cystic adenomatoid malformation of the lung and cerebral tubers and awareness of a family history of maternal epilepsy [J] . Chih-Ping Chen, Tung-Yao Chang, Wan-Yuo Guo, Taiwanese journal of obstetrics and gynecology . 2013,第3期

机译：产前诊断胎儿先天性横纹肌瘤，模仿先天性肺和脑块状囊性腺瘤样畸形，并了解母体癫痫家族史，并检测 TSC2 基因中的剪接突变的母体传播
3. Prenatal Diagnosis of Cerebral Tubers by Magnetic Resonance Imaging Following Detection of Cardiac Rhabdomyomas by Prenatal Ultrasound in a Fetus With a Nonsense Mutation in the TSC2 gene [J] . Journal of medical ultrasound. . 2011,第2期

机译：产前超声检测TSC2基因无意义的胎儿心脏横纹肌瘤后，通过磁共振成像检测脑块茎的产前诊断。
4. Sonographic diagnosis of fetal cardiac rhabdomyomas and cerebral tubers: a case report of prenatal Tuberous Sclerosis [O] . Enrico Colosi, Carlo Russo, Gabriele Macaluso, 2013

机译：胎儿心脏横纹肌瘤和脑结核的超声诊断：产前结节性硬化症一例报告
5. Detection of maternal transmission of a splicing mutation in the TSC2 gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimicking congenital cystic adenomatoid malformation of the lung and cerebral tubers and awareness of a family history of maternal epilepsy [O] . Chih-Ping Chen, Tung-Yao Chang, Wan-Yuo Guo, 2013

机译：在胎儿心脏横纹肌瘤的产前诊断中检测TsC2基因中的剪接突变的母体传播，其模拟先天性肺和脑块的囊性腺瘤样畸形以及对母体癫痫家族史的认识

Detection of maternal transmission of a splicing mutation in the TSC2 gene following prenatal diagnosis of fetal cardiac rhabdomyomas mimicking congenital cystic adenomatoid malformation of the lung and cerebral tubers and awareness of a family history of maternal epilepsy

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