Related Experiment Video

Updated: Jul 16, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Cerebro-facio-thoracic dysplasia: expanding the phenotype

Deirdre Cilliers1, Yasemin Alanay, Koray Boduroglu

  • 1Academic Department of Medical Genetics and Regional Genetics Service, St Mary's Hospital, University of Manchester, Manchester, UK Hacettepe University Faculty of Medicine, Department of Pediatrics, Clinical Genetics Division, Ankara, Turkey.

Clinical Dysmorphology
|March 14, 2007
PubMed

More Related Videos

Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans10:23

Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans

Published on: September 8, 2023

Understanding Cerebellar Pattern Formation13:18

Understanding Cerebellar Pattern Formation

Published on: November 1, 2007

Related Concept Videos

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,...
Cerebrum: Anatomical Overview II01:11

Cerebrum: Anatomical Overview II

Each cerebral hemisphere can be divided into three main regions. The outermost region, the cerebral cortex, is a thin layer (2 to 4 millimeters thick) made up of gray matter, consisting of neuron cell bodies, dendrites, glial cells, and blood vessels. The middle region, or white matter, is primarily composed of myelinated nerve fibers organized into three types of large tracts: association fibers, commissures, and projection fibers. Association fibers connect different areas within the same...
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Cerebrum: Anatomical Overview I01:26

Cerebrum: Anatomical Overview I

The main and largest component of the human brain is the cerebrum. The cerebrum consists of two main parts: the cerebral cortex, an outer layer with wrinkles or folds known as gyri and shallow grooves called sulci, and a deeper region beneath it. The cerebrum divides into two distinct hemispheres and contains five different lobes: the frontal, parietal, temporal, occipital, and insula. The central sulcus separates the frontal and parietal lobes and two functionally important gyri — the...
Cellular Adaptation IV: Dysplasia and Metaplasia01:24

Cellular Adaptation IV: Dysplasia and Metaplasia

DysplasiaDysplasia refers to abnormal changes in the size, shape, and organization of mature cells, characterized by pleomorphism, nuclear abnormalities, and increased mitotic activity. It commonly affects epithelial tissues, including the cervix, gastrointestinal tract, respiratory mucosa, and endometrium. Although it may occur alongside hyperplasia, dysplasia is not a true adaptive response but a preneoplastic change with potential to progress to cancer.When confined above the basement...
Association Areas of the Cortex01:21

Association Areas of the Cortex

Association areas are regions of the cerebral cortex that do not have a specific sensory or motor function. Instead, they integrate and interpret information from various sources to enable higher cognitive processes such as memory, learning, and decision-making. Some key association areas include the following:
Prefrontal Association Area: This area is located in the frontal lobe and is involved in planning, decision-making, and moderating social behavior. It connects with primary motor areas,...