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 Experiment Videos

Defects of blastogenesis.

John M Opitz1, Ginevra Zanni, James F Reynolds

  • 1University of Utah, 100 N. Medical Drive, Suite 2100, Salt Lake City, UT 84113, USA. ajmg@hsc.utah.edu

American Journal of Medical Genetics
|December 28, 2002
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Efficacy of Deep Brain Stimulation for the Treatment of Monogenic Dystonia Symptoms: A Systematic Review.

European journal of neurology·2026
Same author

Further evidence of <i>RNU4ATAC</i> variants causing Joubert syndrome with skeletal involvement.

Journal of medical genetics·2025
Same author

Bending the curve of land degradation to achieve global environmental goals.

Nature·2025
Same author

MCT8 Deficiency in Females.

The Journal of clinical endocrinology and metabolism·2025
Same author

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome.

European journal of human genetics : EJHG·2024
Same author

Unusual Age-Dependent Behavior of Leukocytes Telomere Length in Friedreich's Ataxia.

Movement disorders : official journal of the Movement Disorder Society·2024
Same journal

Abstracts for the Xth World Congress of Psychiatric Genetics. Brussels, Belgium, 9-13 October 2002.

American journal of medical genetics·2003
Same journal

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

American journal of medical genetics·2002
Same journal

Limb anomalies: Developmental and evolutionary aspects.

American journal of medical genetics·2002
Same journal

Molecular etiology of gut malformations and diseases.

American journal of medical genetics·2002
Same journal

Status of the human malformation map: 2002.

American journal of medical genetics·2002
Same journal

Dysplasias and malignancies.

American journal of medical genetics·2002
See all related articles

Understanding early human development is crucial for geneticists and counselors. Research in developmental biology and human teratology aids in diagnosing and understanding birth defects for better parental support.

Area of Science:

  • Developmental Biology
  • Human Teratology
  • Clinical Genetics

Background:

  • Prenatal assessment requires understanding early human development and morphogenesis.
  • Experimental animal models offer insights into conserved molecular mechanisms of embryonic pattern formation.
  • Human-specific data are vital for counseling parents on recurrence risks of severe congenital anomalies.

Purpose of the Study:

  • To emphasize the need for advancing human teratology.
  • To highlight the importance of integrating molecular biology with clinical genetics for understanding birth defects.
  • To underscore the necessity of generating diagnostic and causal data for parental counseling.

Main Methods:

  • Leveraging insights from developmental biology and experimental animal models.

Related Experiment Videos

  • Integrating data from various medical specialists including geneticists, obstetricians, and pathologists.
  • Focusing on molecular mechanisms and genetic/epigenetic factors influencing embryonic development.

    • Main Results:

    • Identical molecular mechanisms in vertebrates suggest conserved developmental pathways.
    • The principle of parsimony indicates that disruptions in key molecules (e.g., sonic hedgehog) can lead to multiple defects (pleiotropy).
    • Syndromes result from causally defined pleiotropy, while "associations" imply unknown causes with lower recurrence risks.

    Conclusions:

    • Advancing human teratology is imperative for diagnosing and understanding congenital anomalies.
    • Understanding molecular pathways is key to identifying causes of birth defects.
    • Multidisciplinary collaboration is essential for providing accurate genetic counseling and parental support.