Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation
出版年份 2020 全文链接
标题
Prenatal exome sequencing in 65 fetuses with abnormality of the corpus callosum: contribution to further diagnostic delineation
作者
关键词
-
出版物
GENETICS IN MEDICINE
Volume -, Issue -, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2020-06-22
DOI
10.1038/s41436-020-0872-8
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study
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- Accuracy of prenatal ultrasound in the diagnosis of corpus callosum anomalies
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- Considerations for whole exome sequencing unique to prenatal care
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- Outcome of isolated agenesis of the corpus callosum: A population-based prospective study
- (2018) Vincent des Portes et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management
- (2018) Natalie Chandler et al. GENETICS IN MEDICINE
- Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability
- (2017) Solveig Heide et al. JOURNAL OF PEDIATRICS
- First applications of a targeted exome sequencing approach in fetuses with ultrasound abnormalities reveals an important fraction of cases with associated gene defects
- (2016) Constantinos Pangalos et al. PeerJ
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes
- (2014) Timothy J. Edwards et al. BRAIN
- Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (How are the children without corpus callosum at 10 years of age?)
- (2012) Marie-Laure Moutard et al. PRENATAL DIAGNOSIS
- Neurodevelopment after prenatal diagnosis of isolated agenesis of the corpus callosum: an integrative review
- (2011) Alexandros Sotiriadis et al. AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY
- Agenesis and dysgenesis of the corpus callosum: Clinical, genetic and neuroimaging findings in a series of 41 patients
- (2008) Chayim Can Schell-Apacik et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Agenesis of the corpus callosum in California 1983-2003: A population-based study
- (2008) Hannah C. Glass et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
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