Related Experiment Video

Updated: Jun 8, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

A faster strategy for prenatal diagnosis of fragile X syndrome

S Schmitt, M Giraud, J Hary

    Prenatal Diagnosis
    |September 16, 2010
    PubMed
    Abstract

    No abstract available in PubMed .

    More Related Videos

    FISH for Pre-implantation Genetic Diagnosis
    07:34

    FISH for Pre-implantation Genetic Diagnosis

    Published on: February 23, 2011

    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

    Related Experiment Videos

    Last Updated: Jun 8, 2026

    A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
    08:22

    A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

    Published on: September 16, 2019

    FISH for Pre-implantation Genetic Diagnosis
    07:34

    FISH for Pre-implantation Genetic Diagnosis

    Published on: February 23, 2011

    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

    Related Concept Videos

    Karyotyping01:17

    Karyotyping

    Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...

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

    NOTCH2 related disorders: Description and review of the fetal presentation.

    European journal of medical genetics·2023

    [Rituximab immunomonitoring in autoimmune diseases: a support tool in clinical practice?]

    La Revue de medecine interne·2021

    [A new case of rare erythrocytosis due to EGLN1 mutation with review of the literature].

    La Revue de medecine interne·2020

    Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability.

    Clinica chimica acta; international journal of clinical chemistry·2018

    The polyol process: a unique method for easy access to metal nanoparticles with tailored sizes, shapes and compositions.

    Chemical Society reviews·2018

    Two novel variants of uncertain significance in GP9 associated with Bernard-Soulier syndrome: Are they true mutations?

    Platelets·2017

    Extended Non-Invasive Prenatal Testing for Chromosomal and Monogenic Disorders by Cell-Free DNA Sequencing: A Blinded Comparison With Amniocentesis.

    Prenatal diagnosis·2026

    Genome-Wide NIPT With Fetal-Fraction Enrichment and BinDel: Clinical Cohort Evaluation of Microdeletion and -Duplication Detection.

    Prenatal diagnosis·2026

    Cost-Effectiveness of Universal and Contingent NIPT Within a Multi-Tariff Healthcare System: A Full Incremental Decision-Analytic Cohort Study.

    Prenatal diagnosis·2026

    Provider Practice and Patient Clinical Follow-Up Among Patients With Spinal Muscular Atrophy (SMA) Linked-Variant.

    Prenatal diagnosis·2026

    Non-Invasive Prenatal Diagnosis of Haemoglobinopathies: From Concept to Clinical Reality.

    Prenatal diagnosis·2026

    Transplacental Flecainide and/or Digoxin for Fetal Tachyarrhythmias: Therapeutic Efficacy and Clinical Experience.

    Prenatal diagnosis·2026

    Baseline Cognitive Status and 12-Month Response to Short-Term Spinal Cord Stimulation versus Bipolar Pulsed Radiofrequency for Zoster-Associated Pain: A Propensity Score-Matched Retrospective Cohort Study.

    Journal of pain research·2026

    Charge-Transfer-Induced Reactivity in sp Carbon Atomic Wires: Toward 0‑D sp-sp2 Nanostructures.

    The journal of physical chemistry. C, Nanomaterials and interfaces·2026

    A Sensitive Approach for the Determination of the Novel Antidepressant Vilazodone: Electrochemical Sensing Using a Boron-Doped Diamond Electrode in Surfactant-Containing Media.

    ChemistryOpen·2026

    Quantitative Compensation of Edge Effects for Particle Sizing in Stochastic Electrochemical Collision Experiments.

    ACS measurement science au·2026

    Ca2+-dependent pathways controlled by Piezo1 activity in human erythroid progenitor cell line: focus on KCa3.1 channels, ANO6 lipid scramblases and pannexins-1.

    Cell communication and signaling : CCS·2026

    Decoupling Electron and Hole Injection Dynamics in Colloidal Nanocrystals via Potentiostatic Polarization Spectroelectrochemistry.

    The journal of physical chemistry letters·2026
    See all related articles
    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
    Jove
    Visualize
    Contact Us