Cystic fibrosis carrier screening by DNA analysis: a pilot study of attitudes among participants

Related Experiment Video

Updated: Jul 4, 2026

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
08:00

Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study

Published on: April 11, 2018

F Kaplan, C Clow, C R Scriver

    American Journal of Human Genetics
    |July 1, 1991
    PubMed
    Abstract

    No abstract available in PubMed .

    Keywords:
    Empirical ApproachGenetics and Reproduction

    More Related Videos

    Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
    05:58

    Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

    Published on: August 20, 2018

    Cystic Fibrosis Aggregate Biofilm Model to Study Infection-relevant Gene Expression
    08:58

    Cystic Fibrosis Aggregate Biofilm Model to Study Infection-relevant Gene Expression

    Published on: April 18, 2025

    Related Experiment Videos

    Last Updated: Jul 4, 2026

    Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study
    08:00

    Generation of Human Nasal Epithelial Cell Spheroids for Individualized Cystic Fibrosis Transmembrane Conductance Regulator Study

    Published on: April 11, 2018

    Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
    05:58

    Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

    Published on: August 20, 2018

    Cystic Fibrosis Aggregate Biofilm Model to Study Infection-relevant Gene Expression
    08:58

    Cystic Fibrosis Aggregate Biofilm Model to Study Infection-relevant Gene Expression

    Published on: April 18, 2025

    Related Concept Videos

    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...

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

    Quasi-Particle Self-Consistent GW for Molecules.

    Journal of chemical theory and computation·2016

    Off-Diagonal Self-Energy Terms and Partially Self-Consistency in GW Calculations for Single Molecules: Efficient Implementation and Quantitative Effects on Ionization Potentials.

    Journal of chemical theory and computation·2015

    Ancient administrative handwritten documents: X-ray analysis and imaging.

    Journal of synchrotron radiation·2015

    Siblings of the retardate: An adolescent group experience.

    Community mental health journal·2013

    A way of thinking: Mental health professionals in community programs.

    Community mental health journal·2013

    A Commentary on Multiple Screening for Aminoacidopathies in the Newborn Infant.

    Canadian Medical Association journal·2010

    Functional stratification of YWHAZ variants explains distinct neurodevelopmental disorders.

    American journal of human genetics·2026

    De novo variants in the essential splicing factor gene SRSF3 cause variable developmental phenotypes.

    American journal of human genetics·2026

    The genetic architecture of pentanucleotide repeat variation and disease association.

    American journal of human genetics·2026

    Accurate detection of sub-1% frequency somatic mutations by whole-genome sequencing.

    American journal of human genetics·2026

    De novo MAP2K4 variants cause a neurodevelopmental syndrome and impaired JNK signaling in iPSC-derived neurons.

    American journal of human genetics·2026

    Large-scale integration of functional assay data for the resolution of germline BRCA1 and BRCA2 variants of uncertain significance.

    American journal of human genetics·2026

    Model-based inference of gene expression noise from single-cell RNA-sequencing data.

    G3 (Bethesda, Md.)·2026

    scMRdb: a comprehensive resource for cell-type-resolved Mendelian randomization of complex traits.

    Nucleic acids research·2026

    Next-Generation Sequencing in Pediatric Lipid Disorders: Expanding the Genetic Landscape and Clinical Understanding.

    Pediatrics international : official journal of the Japan Pediatric Society·2026

    Rare and common genetic variants shape single-cell immune gene expression.

    Nature·2026

    [Fundamentals of genetic counseling in hematology: pedigree construction and management of secondary findings in HemeSight®].

    [Rinsho ketsueki] The Japanese journal of clinical hematology·2026

    Extending the clinical utility of exome sequencing: reanalysis, variant reclassification, and dynamic reporting in molecular diagnosis.

    Laboratory medicine·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