相关实验视频

Updated: Jul 1, 2025

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests
08:30

Author Spotlight: Exploring Autism Spectrum Disorder Symptoms in Fruit Flies — Genetic Models and Behavioral Tests

Published on: September 6, 2024

1.6K

神经行为和发育概况:康尼利亚·德朗格综合征患者的基因型-表型相关性

Rowena Ng1,2, Julia O'Connor3,4, Deirdre Summa5

  • 1Department of Neuropsychology, Kennedy Krieger Institute, 1750 E. Fairmount Ave, Baltimore, MD, 21231, USA. ngr@kennedykrieger.org.

Orphanet journal of rare diseases
|March 11, 2024
PubMed
概括

与SMC1A变体相比,患有康涅利亚·德朗格综合征 (CdLS) 和NIPBL变体的个体表现出更严重的行为问题,包括焦虑和自我伤害行为. 两组都经历了类似的发育延迟,突出了早期干预的必要性.

关键词:
行为运作 行为运作康奈莉亚·德朗格综合征 (Cornelia de Lange综合征) 是一种发展发展发展 发展发展遗传学/遗传性疾病干预措施 干预措施尼普布尔 (NIPBL) 是一种这就是SMC1A.

更多相关视频

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

19.6K
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

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

8.6K

相关概念视频

Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
566
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,...
40.4K
Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
6.5K
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
366
Genetic Lingo01:11

Genetic Lingo

Overview
102.7K
Pedigree Analysis01:35

Pedigree Analysis

Overview
84.2K