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Updated: Sep 16, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.7K

ImprintCap是一项基于NGS的强大技术,用于调查印记障碍的分子背景

Frédéric Brioude1, Martin A Haagmans2,3, Marcel Mannens2,3

  • 1Inserm, Centre de Recherche Saint-Antoine, Sorbonne Université, AP-HP, Hôpital Trousseau, 75012, Paris, France. frederic.brioude@aphp.fr.

Clinical epigenetics
|July 7, 2025
PubMed
概括

一个新的下一代定向测序面板,ImprintCap,准确地检测甲基化变化,副本数量变化和印记障碍中的单亲异构. 这种具有成本效益的方法有助于诊断罕见的遗传疾病,具有高灵敏度,即使在较低的马赛克水平.

关键词:
打印障碍 打印障碍 打印障碍甲基化 甲基化 甲基化多部位印记的干扰扰乱一个单亲的异构.

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Targeted DNA Methylation Analysis by Next-generation Sequencing08:38

Targeted DNA Methylation Analysis by Next-generation Sequencing

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Optimized Analysis of DNA Methylation and Gene Expression from Small, Anatomically-defined Areas of the Brain13:11

Optimized Analysis of DNA Methylation and Gene Expression from Small, Anatomically-defined Areas of the Brain

Published on: July 12, 2012

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相关概念视频

Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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Imprinting01:22

Imprinting

Behavioral imprinting is observed in some newborn animals and occurs when they develop strong and specific attachments to another animal (usually a parent) following brief, early-life exposures. Offspring imprint onto parents within a brief period after birth or hatching; this time window is called the critical period. Once imprinting occurs, the bond established between the parents and their offspring is usually long-lasting.
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Chromatin Immunoprecipitation- ChIP02:36

Chromatin Immunoprecipitation- ChIP

Chromatin immunoprecipitation, or ChIP, is an antibody-based technique used to identify sites on DNA that bind to transcription factors of interest or histone proteins. It also helps determine the type of histone modifications such as acetylation, phosphorylation, or methylation.
Types of ChIP
ChIP can be divided into two types - X-ChIP and N-ChIP. X-ChIP involves in vivo cross-linking of histones and regulatory proteins to DNA, fragmenting the DNA by sonication, and isolating the protein-DNA...
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Immunoprecipitation01:20

Immunoprecipitation

Immunoprecipitation, or IP, is a widely used technique that employs protein-antibody interactions to isolate proteins or protein complexes in their native state for studying protein-protein interactions, quaternary structures, or supramolecular complexes. Various modifications of the technique, including chromatin IP, cross-linking IP, and fluorescence IP, are commonly used.
Chromatin Immunoprecipitation
Chromatin immunoprecipitation, also known as ChIP, is used to study protein-DNA or...
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