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Molecular Diagnosis of Genetic Diseases
  • Language: en
  • Pages: 400

Molecular Diagnosis of Genetic Diseases

This completely revised and updated second edition integrates the many new technologies and insights now available for the diagnosis of genetic diseases. The authors use such methodologies as PCR optimization dosage analysis, mutation scanning, and quantitative fluorescent PCR for aneuploidy analysis, Neurofibromatosis type 1, and Duchenne muscular dystrophy. These largely generic methodologies may be adapted to most genetic conditions for which a molecular diagnosis is relevant. Molecular Diagnosis of Genetic Diseases, Second Edition offers diagnostic molecular geneticists a unique opportunity to sharpen their scientific skills in the design of assays, their execution, and their interpretation.

Genetic Engineering
  • Language: en
  • Pages: 232

Genetic Engineering

Over the past decade, our laboratory and others have been concerned with molecular archaeological studies aimed at revealing the origins and evolutionary histories of permeases (1). These studies have revealed that several different families, defined on the basis of sequence similarities, arose independently of each other, at different times in evolutionary history, following different routes. When complete microbial genomes first became available for analysis, we adapted p- existing software and designed new programs that allowed us quickly to identify probable transmembrane proteins, estimate their topologies and determine the likelihood that they function in transport (2). This work allow...

Conditio Humana
  • Language: en
  • Pages: 337

Conditio Humana

None

Resúmenes, V Congreso Internacional de Genética Humana
  • Language: en
  • Pages: 220

Resúmenes, V Congreso Internacional de Genética Humana

  • Type: Book
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  • Published: 1976
  • -
  • Publisher: Unknown

None

Genetic Recombination
  • Language: en
  • Pages: 260

Genetic Recombination

Features state-of-the-art techniques to study genetic recombination in eukaryotes; methods for using recombination as a tool for producing targeted genetic modification; chapters on using recombination as a reporter of genomic instability; and biochemical analyses of the mechanisms underlying recombination.

V [i.e. Quinto] Congreso Internacional de Genética Humana
  • Language: en
  • Pages: 220

V [i.e. Quinto] Congreso Internacional de Genética Humana

  • Type: Book
  • -
  • Published: 1976
  • -
  • Publisher: Unknown

None

Gene Knockout Protocols
  • Language: en
  • Pages: 431

Gene Knockout Protocols

As the major task of sequencing the human genome nears completion and the full complement of human genes are catalogued, the task of understanding the normal biological functions of genes and how their alteration leads to diseased states becomes more imperative. In Gene Knockout Protocols, highly skilled investigators with extensive experience in gene targeting and mouse genetics describe their best techniques for the design of targeting constructs and for genetic phenotype analysis. These proven methods contain step-by-step instructions, as well as notes on pitfalls to avoid, and emphasize techniques that are relevant to researchers carrying out gene targeting work. These include embryo tra...

Computational Genetics and Genomics
  • Language: en
  • Pages: 308

Computational Genetics and Genomics

Ultimately, the quality of the tools available for genetic analysis and experimental disease models will be assessed on the basis of whether they provide new information that generates novel treatments for human disease. In addition, the time frame in which genetic discoveries impact clinical practice is also an important dimension of how society assesses the results of the significant public financial investment in genetic research. Because of the investment and the increased expectation that new tre- ments will be found for common diseases, allowing decades to pass before basic discoveries are made and translated into new therapies is no longer acceptable. Computational Genetics and Genomi...

Molecular Genetic Pathology
  • Language: en
  • Pages: 1136

Molecular Genetic Pathology

  • Type: Book
  • -
  • Published: 2013-03-05
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  • Publisher: Springer

Molecular Genetic Pathology, Second Edition presents up-to-date material containing fundamental information relevant to the clinical practice of molecular genetic pathology. Fully updated in each area and expanded to include identification of new infectious agents (H1N1), new diagnostic biomarkers and biomarkers for targeted cancer therapy. This edition is also expanded to include the many new technologies that have become available in the past few years such as microarray (AmpliChip) and high throughput deep sequencing, which will certainly change the clinical practice of molecular genetic pathology. Part I examines the clinical aspects of molecular biology and technology, genomics. Poharma...