相关实验视频

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

在彼得斯异常频谱障碍中的新型遗传变异和临床概况

Flora Delas1,2, Samuel Koller1, Jordi Maggi1

  • 1Institute of Medical Molecular Genetics, University of Zurich, 8952 Schlieren, Switzerland.

International journal of molecular sciences
|July 12, 2025
PubMed
概括

这项研究在患有彼得异常谱系障碍的个体中发现了新的遗传变异,包括大量删除和FOXC1突变. 这些发现凸显了前段异构的遗传复杂性和表型变异性.

关键词:
这是FOXC1的FOXC1PEX2 PEX2 的使用情况这就是彼得的异常."彼得斯加综合征"是"彼得斯加综合征"的一个症状.皮特斯加类综合征 (Peter's plus-like syndrome) 是一种类似于皮特斯加类综合征的疾病.在ZFHX4中使用.前部段的异构发生.原始的天生的玻璃眼.角膜不透明性 角膜不透明性

更多相关视频

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.0K
Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants09:16

Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

19.8K

相关概念视频

Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
25.5K
Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
340
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.9K
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
41.1K
Pedigree Analysis01:35

Pedigree Analysis

Overview
85.3K
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
15.9K