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

Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

557
Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of...
557
Acute Coronary Syndrome I: Introduction01:30

Acute Coronary Syndrome I: Introduction

938
Acute Coronary Syndrome (ACS) encompasses a spectrum of heart conditions caused by sudden obstruction of coronary arteries, typically resulting from the rupture of an atherosclerotic plaque and subsequent thrombus (blood clot) formation. This obstruction can lead to partial or complete blockage of blood flow, causing varying degrees of myocardial ischemia or infarction.ACS includes the following clinical entities:Unstable Angina (UA)Non-ST-Elevation Myocardial Infarction (NSTEMI)ST-Elevation...
938
Irritable Bowel Syndrome I: Introduction01:17

Irritable Bowel Syndrome I: Introduction

956
Irritable Bowel Syndrome (IBS) is characterized by functional disturbances in the gastrointestinal system, presenting a cluster of symptoms without evident structural or biochemical abnormalities. It primarily affects the large intestine and may cause abdominal pain, bloating, excessive gas, diarrhea, constipation, or both.
IBS is a chronic condition that can persist over a long period or recur frequently.
The pathogenesis of IBS involves a complex interplay of the following factors:
Altered...
956
Introduction to R01:11

Introduction to R

4.3K
R is a powerful software environment for statistical computing and graphics. Originating as an implementation of the S language, developed at Bell Laboratories, R has evolved into a robust, open-source statistical software favored by statisticians and data scientists worldwide. Its comprehensive suite includes data manipulation, calculation, and graphical display capabilities, making it versatile for data analysis and visualization. Its programming language is at the core of R's...
4.3K
Introduction to Wood01:19

Introduction to Wood

772
Wood, derived from trees, is a versatile and widely used construction material. Trees feature a trunk surrounded by a protective layer of dead bark. Beneath this outer layer lies the living bark, followed by the cambium, and then the sapwood which transitions into heartwood as it matures. At the center of the trunk is the pith. The age of a tree can be discerned by examining its growth rings, which are concentric bands visible in the trunk's cross-section.
The structural integrity of the...
772
Introduction to z Scores01:05

Introduction to z Scores

1.3K
A z score (or standardized value) is measured in units of the standard deviation. It indicates how many standard deviations the value x is above (to the right of) or below (to the left of) the mean, μ. Values of x that are larger than the mean have positive z scores, and values of x that are smaller than the mean have negative z scores. If x equals the mean, then x has a zero z score. It is important to note that the mean of the z scores is zero, and the standard deviation is one.
z scores...
1.3K

You might also read

Related Articles

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

Sort by
Same author

Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype-Specific Analysis.

Prenatal diagnosis·2026
Same author

Incremental yield of exome sequencing in fetuses with truly isolated fetal growth restriction: diagnostic insights and clinical impact.

American journal of obstetrics & gynecology MFM·2025
Same author

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios.

Prenatal diagnosis·2025
Same author

Dynamic rRNA methylation regulates translation in the hematopoietic system and is essential for stem cell fitness.

Blood·2025
Same author

<i>LSM1</i> c.231+4A>C hotspot variant is associated with a novel neurodevelopmental syndrome: first patient cohort.

Journal of medical genetics·2025
Same author

Evaluation of the digital genetic assistant in technology assisted genetic counseling for genetic carrier screening.

NPJ digital medicine·2025

Related Experiment Video

Updated: Jan 27, 2026

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein
10:59

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein

Published on: June 6, 2025

1.1K

Fragile X Syndrome: Introduction.

Adi Reches1

  • 1Genetic Institute and Racine IVF Unit at Lis Maternity Hospital Tel Aviv, Sackler Faculty of Medicine, Tel Aviv Sourasky Medical Center, Tel Aviv University, Tel Aviv, Israel. adir@tlvmc.gov.il.

Methods in Molecular Biology (Clifton, N.J.)
|March 23, 2019
PubMed
Summary

Fragile X syndrome (FXS), a common cause of intellectual disability, has a complex history. Scientific and technological advances have been key to understanding its inheritance and genetic basis.

Area of Science:

  • Genetics
  • Medical History
  • Neurodevelopmental Disorders

Background:

  • Fragile X syndrome (FXS) is a leading genetic cause of intellectual disability (ID).
Keywords:
AnticipationBell JClinical features of FXSFMR1 geneFragile X-associated tremor/ataxia syndromeInheritance patternLubs HAMartin JPPremutationPrenatal diagnosisPrimary ovarian insufficiencySherman paradoxTesting for fragile X syndromeTrinucleotide repeats expansions

More Related Videos

TMS: Using the Theta-Burst Protocol to Explore Mechanism of Plasticity in Individuals with Fragile X Syndrome and Autism
10:58

TMS: Using the Theta-Burst Protocol to Explore Mechanism of Plasticity in Individuals with Fragile X Syndrome and Autism

Published on: December 28, 2010

17.4K
Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation
11:10

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation

Published on: July 6, 2022

2.7K

Related Experiment Videos

Last Updated: Jan 27, 2026

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein
10:59

Generation and Characterization of Human Induced Pluripotent Stem Cell-derived Astrocytes Lacking Fragile X Messenger Ribonucleoprotein

Published on: June 6, 2025

1.1K
TMS: Using the Theta-Burst Protocol to Explore Mechanism of Plasticity in Individuals with Fragile X Syndrome and Autism
10:58

TMS: Using the Theta-Burst Protocol to Explore Mechanism of Plasticity in Individuals with Fragile X Syndrome and Autism

Published on: December 28, 2010

17.4K
Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation
11:10

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation

Published on: July 6, 2022

2.7K
  • Initial descriptions in the 1940s lacked understanding of its underlying mechanisms.
  • Progress in genetics and technology was crucial for unraveling FXS.