Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma

van den Oever Jessica M. E.; Bijlsma Emilia K.; Feenstra Ilse; Muntjewerff Nienke; Mathijssen Inge B.; Bakker Egbert; van Belzen Martine J.; Boon Elles M. J.

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Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma

机译：亨廷顿病的非侵入性产前诊断：检测母体血浆中父本遗传的扩展CAG重复

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Objective With a shift towards noninvasive testing, we have explored and validated the use of noninvasive prenatal diagnosis (NIPD) for Huntington disease (HD).

机译：目的随着向无创检测的转变，我们已经探索并验证了针对亨廷顿病（HD）的无创产前诊断（NIPD）的使用。

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《Prenatal Diagnosis》 |2015年第10期|共5页
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van den Oever Jessica M. E.; Bijlsma Emilia K.; Feenstra Ilse; Muntjewerff Nienke; Mathijssen Inge B.; Bakker Egbert; van Belzen Martine J.; Boon Elles M. J.;
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正文语种 eng
中图分类妇科学;
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1. Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma [J] . van den Oever Jessica M. E., Bijlsma Emilia K., Feenstra Ilse, Prenatal Diagnosis . 2015,第10期

机译：亨廷顿病的非侵入性产前诊断：检测母体血浆中父本遗传的扩展CAG重复
2. Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR [J] . AuréliaGruber, MathildePacault, Laila AllachEl Khattabi, Clinical chemistry and laboratory medicine: CCLM . 2018,第5期

机译：来自母体血浆的患者遗传性疾病的非侵袭性产前诊断：使用液滴数码PCR检测NF1和CFTR突变
3. Non-invasive prenatal diagnosis using fetal DNA in maternal plasma: a preliminary study for identification of paternally-inherited alleles using single nucleotide polymorphisms [J] . E George, J A M A Tan, J J Chen, BMJ Open . 2015,第7期

机译：在母体血浆中使用胎儿DNA进行非侵入性产前诊断：使用单核苷酸多态性鉴定父系遗传等位基因的初步研究
4. Copy Number Variation, Eicosapentaenpic Acid and Neurological Disorders: With Particular Reference to Huntington's Disease and Associated CAG Repeats, and to Myalgic Encepliaiomyelitis and Viral Infec [C] . Basant K. Puri, Mehar S. Manku Congress of the International Society of Nutrigenetic/Nutrigenomics . 2010

机译：拷贝数变异，eicosapentaenpic酸和神经疾病：特别参考亨廷顿的疾病和相关的CAG重复，以及肌algicenceplia肌炎和病毒infec
5. Noninvasive Prenatal Diagnosis by Targeted Massively Parallel Sequencing of Maternal Plasma. [D] . Liao, Jiawei. 2013

机译：母体血浆靶向大规模并行测序的非侵入性产前诊断。
6. Non-invasive prenatal diagnosis using fetal DNA in maternal plasma: a preliminary study for identification of paternally-inherited alleles using single nucleotide polymorphisms [O] . J J Chen, J A M A Tan, K H Chua, 2015

机译：在母体血浆中使用胎儿DNA进行非侵入性产前诊断：使用单核苷酸多态性鉴定父系遗传等位基因的初步研究
7. Noninvasive Prenatal Diagnosis of Monogenic Diseases by Targeted Massively Parallel Sequencing of Maternal Plasma: Application to β-Thalassemia [O] . Kwan-Wood G Lam, Peiyong Jiang, Gary J W Liao, 2012

机译：母体血浆靶向大规模平行测序的非侵入性产前诊断：β-地中海贫血的应用

Noninvasive prenatal diagnosis of Huntington disease: detection of the paternally inherited expanded CAG repeat in maternal plasma

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