Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

30.1K
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...
30.1K
Teratogenicity01:07

Teratogenicity

4.2K
The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
4.2K
Meiosis vs. Mitosis02:57

Meiosis vs. Mitosis

39.4K
Cell division is necessary for growth and reproduction in organisms. Mitosis aids cell growth and development by dividing somatic cells. In contrast, meiosis causes the division of germ cells and plays an essential role in sexual reproduction. Due to their unique functional requirements, mitosis and meiosis differ from each other in multiple aspects.
Before the start of mitosis and meiosis I, the cell synthesizes DNA, resulting in two homologous copies of each chromosome. DNA synthesis is...
39.4K
Neurulation01:30

Neurulation

40.1K
Neurulation is the embryological process which forms the precursors of the central nervous system and occurs after gastrulation has established the three primary cell layers of the embryo: ectoderm, mesoderm, and endoderm. In humans, the majority of this system is formed via primary neurulation, in which the central portion of the ectoderm—originally appearing as a flat sheet of cells—folds upwards and inwards, sealing off to form a hollow neural tube. As development proceeds, the...
40.1K
Mutations01:39

Mutations

66.6K
Overview
66.6K
Mutations01:35

Mutations

31.2K
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
31.2K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation framework.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

International clinical evidence-based guideline for Kleefstra syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics·2026
Same author

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

American journal of human genetics·2025
Same author

Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome.

American journal of medical genetics. Part A·2025
Same author

A Novel KDF1 Variant is Associated With Multiple Natal Teeth, Tooth Agenesis, and Root Maldevelopment.

International dental journal·2025
Same author

Analysis of genes differentially expressed in the cortex of mice with the Tbl1xr1<sup>Y446C/Y446C</sup> variant.

Gene·2024
Same journal

New insights into the complex genetic architecture of age-related hearing loss.

European journal of medical genetics·2026
Same journal

Clinical and genetic spectrum of trichorhinophalangeal syndrome type I/III in 20 children of Korean origin.

European journal of medical genetics·2026
Same journal

Hearing outcomes after cochlear implantation in two patients with ATP6V1B2-related deafness and onychodystrophy.

European journal of medical genetics·2026
Same journal

A novel de novo CACNA1G variant p.(Arg1553Gln) associated with neurodevelopmental delay and cerebellar hypoplasia: Expanding the phenotypic spectrum.

European journal of medical genetics·2026
Same journal

Development of a predictive matrix for pre-test genetic counselling in inherited retinal diseases based on data from 1001 patients enrolled in the IRD-PT registry.

European journal of medical genetics·2026
Same journal

Genotype before phenotype? Reversing the diagnostic odyssey in genomic medicine.

European journal of medical genetics·2026
See all related articles

Related Experiment Video

Updated: Apr 28, 2026

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

7.9K

Genetics of common malformations.

John M Graham1, Raoul C Hennekam2

  • 1Medical Genetics Institute, Cedars Sinai Medical Center, 8700 Beverly Blvd, Suite PACT 400, Los Angeles, CA 90048, USA; Department of Pediatrics, Harbor-UCLA Medical Center, David Geffen School of Medicine at University of California, Los Angeles, CA, USA.

European Journal of Medical Genetics
|June 14, 2014
PubMed
Summary
This summary is machine-generated.

Advanced technologies can now study common malformations, not just rare genetic disorders. Research should consider multiple genetic variants, DNA source, and environmental factors for better understanding and prevention.

Keywords:
EpidemiologyEpigeneticsGeneticsMalformationsMosaicismPreventionTeratogenics

More Related Videos

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System
07:34

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System

Published on: May 5, 2018

11.0K
Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
08:28

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods

Published on: March 10, 2020

6.5K

Related Experiment Videos

Last Updated: Apr 28, 2026

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

7.9K
Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System
07:34

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System

Published on: May 5, 2018

11.0K
Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
08:28

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods

Published on: March 10, 2020

6.5K

Area of Science:

  • Genetics and Developmental Biology
  • Medical Research

Background:

  • Recent technological advancements enable detailed study of rare Mendelian disorders.
  • Common malformations are often complex, involving multiple genetic variants and environmental factors, unlike single-gene Mendelian disorders.

Purpose of the Study:

  • To explore the application of advanced technologies in studying common malformations.
  • To highlight the importance of considering genetic interplay and exogenous influences in malformation research.
  • To emphasize the significance of DNA source and potential mosaicism in malformation studies.

Main Methods:

  • Leveraging advanced genomic technologies for malformation analysis.
  • Investigating the role of multiple genetic variants and their interactions.
  • Assessing the impact of exogenous factors and DNA source on malformation development.

Main Results:

  • Common malformations result from complex interactions between genetic variants and environmental influences.
  • Mosaicism may be more prevalent than previously thought, influenced by the DNA source.
  • Factors beyond single genomic DNA variants are crucial for understanding malformations.

Conclusions:

  • Advanced technologies should be utilized to study complex malformations.
  • A comprehensive approach considering genetic and environmental factors is necessary.
  • Further research into DNA source and mosaicism can reduce the burden of human malformations.