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

Craniofacial developmental abnormalities

F V Elmslie1, W Reardon

  • 1Mothercare Unit of Paediatric Genetics and Fetal Medicine, University College London Medical School, UK. f.elmslie@ich.ucl.ac.uk

Current Opinion in Neurology
|April 29, 1998
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

Establishing or Excluding a Diagnosis of Fetal Valproate Spectrum Disorder is a Multi-layered Process.

Irish medical journal·2022
Same author

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

Genetics in medicine : official journal of the American College of Medical Genetics·2020
Same author

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Clinical genetics·2016
Same author

NSD1 mutations generate a genome-wide DNA methylation signature.

Nature communications·2015
Same author

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

Clinical genetics·2013
Same author

Update on Kleefstra Syndrome.

Molecular syndromology·2012
Same journal

Movement disorders and Parkinson's disease: collaborative and interdisciplinary research to advance understanding of neural circuit dysfunction, pathophysiology, and care: new horizons in technology, neuroimaging, neurophysiology, and genetics toward personalized medicine.

Current opinion in neurology·2026
Same journal

Editorial introduction.

Current opinion in neurology·2026
Same journal

Multimodal mapping of balance dysfunction in Parkinson's disease: a consensus roadmap for research and intervention.

Current opinion in neurology·2026
Same journal

Tourette syndrome: brain neurophysiology, circuit dysfunction, and neuromodulation across invasive and noninvasive approaches.

Current opinion in neurology·2026
Same journal

Dystonia: from phenotypes to genetics and therapeutic advances.

Current opinion in neurology·2026
Same journal

What can we learn from eye movements in movement disorders and Parkinson's disease?

Current opinion in neurology·2026
See all related articles

Researchers are uncovering the molecular causes of human dysmorphic syndromes affecting craniofacial development. This knowledge will improve our understanding of normal facial development processes.

Area of Science:

  • Genetics
  • Developmental Biology
  • Molecular Biology

Background:

  • Human dysmorphic syndromes often involve craniofacial abnormalities.
  • Understanding the genetic basis of these syndromes is crucial.

Purpose of the Study:

  • To elucidate the molecular underpinnings of human dysmorphic syndromes.
  • To enhance comprehension of normal craniofacial development mechanisms.

Main Methods:

  • Molecular analysis of affected individuals.
  • Genetic sequencing and analysis.
  • Comparative genomics.

Main Results:

  • Identification of key genes and pathways involved in craniofacial development.
  • Elucidation of molecular mechanisms leading to dysmorphic syndromes.

Related Experiment Videos

  • Insights into the etiology of congenital facial abnormalities.

    • Conclusions:

    • Advances in molecular biology are crucial for understanding craniofacial development.
    • Molecular insights into dysmorphic syndromes inform our knowledge of normal development.
    • Further research will refine therapeutic targets for craniofacial disorders.