Molecular Diagnosis of Genetic Diseases - Elles, Rob.; SpringerLink (Online service) (Totowa, NJ : Humana Press : Imprint: Humana, 1996)
An Overview of Clinical Molecular Genetics -- PCR Techniques for Deletion, Linkage, and Mutation Analysis in Duchenne/Becker Muscular Dystrophy -- Detection of Unstable Trinucleotide Repeats -- Searching for Mutations -- Methods for Screening in Cystic Fibrosis -- Characterization of Gene Rearrangements and Gene Conversion Events in the 21-Hydroxylase Gene -- Molecular Analysis of X-Chromosome Inactivation -- Risk Analysis -- Hemoglobinopathies -- Automated Genotyping in Diagnosis -- Genetic Counseling and Molecular Testing -- Molecular Approaches to the Detection of Deletions and Uniparental Disomy in Prader-Willi and Angelman Syndromes -- Noninvasive Prenatal Diagnosis Using Fetal Cells in Maternal Blood -- PCR from Single Cells for Preimplantation Diagnosis -- FISH in Preimplantation Diagnosis -- Microtiter Array Diagonal Gel Electrophoresis (MADGE) for Population Scale Genotype Analyses -- Pulsed Field Gel Electrophoresis for Detection of Gene Rearrangements in Duchenne Muscular Dystrophy -- Fluorescent Sequencing Protocols in Diagnosis -- High Throughput Modifications of Single-Strand Conformation Polymorphism Analysis -- Quality Assurance in Molecular Diagnosis.
Keywords: Cell biology; Cell Biology