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Genomics of Rare Diseases
Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and p...
Genomic Disorders
A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.
Bacterial Genomes
A wide range of microbiologists, molecular biologists, and molecular evolutionary biologists will find this new volume of singular interest. It summarizes the present knowledge about the structure and stability of microbial genomes, and reviews the techniques used to analyze and fingerprint them. Maps of approximately thirty important microbes, along with articles on the construction and relevant features of the maps are included. The volume is not intended as a complete compendium of all information on microbial genomes, but rather focuses on approaches, methods and good examples of the analysis of small genomes.
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Principles of Molecular Medicine
The concept of molecular medicine dates back to Linus means that there are many new opportunities and challenges Pauling, who in the late 1940s and early 1950s generalized for clinical medicine. One of the effects of the completion of from the ideas that came from the study of the sickle cell the Human Genome Project is the increasing application of hemoglobin molecule. With the first cloning of human genes the fields of molecular biology and genetics to the und- about 1976, molecular genetics took the molecular perspec- standing and management of common diseases. Assimi- tive on disease to the level of DNA. The term molecular tion of the new developments since the first edition has been med...
Principles of Molecular Medicine
Within the framework of clinical internal medicine, they will gain critical knowledge of the many powerful molecular biology-based developments now so rapidly enhancing our understanding of the pathophysiology of disease, improving the feasibility and accuracy of diagnostic testing, and opening novel therapeutic avenues, including gene therapy. Readers will also gain a fuller understanding of the role played by genetic defects in a host of diseases, among them peripheral neuropathies, Alzheimer's disease, arrhythmias, leukemias and lymphomas, cystic fibrosis, hepatitis, HIV, autoimmune disorders, polycystic kidney disease, schizophrenia, affective disorders, alcoholism, Huntington's disease, and many more.
Advances in Human Genetics
From reviews of previous volumes in the series: 'Extremely valuable...thoroughly recommended.'-Annals of Human Genetics 'The most lucid and stimulating discussions of the topic to be found anywhere.'-American Scientist
Peterson's Graduate Programs in Biophysics; Botany & Plant Biology; and Cell, Molecular, & Structural Biology
Peterson's Graduate Programs in the Biophysics; Botany & Plant Biology; and Cell, Molecular, & Structural Biology contains a wealth of information on universities that offer graduate/professional degrees in these cutting-edge fields. Profiled institutions include those in the United States, Canada, and abroad that are accredited by U.S. accrediting agencies. Up-to-date data, collected through Peterson's Annual Survey of Graduate and Professional Institutions, provides valuable information on degree offerings, professional accreditation, jointly offered degrees, part-time and evening/weekend programs, postbaccalaureate distance degrees, faculty, students, degree requirements, entrance require...
Thompson & Thompson Genetics and Genomics in Medicine E-Book
First published in 1966, Thompson and Thompson Genetics and Genomics in Medicine has become an essential textbook for medical students, genetic counseling students, students in laboratory medicine, and more advanced trainees. With its focus on fundamental principles in human genetics and genomics and their application to medicine, the book has served many as a well-thumbed resource they return to over and over. Such students can continue to depend on this valuable text, joining those in newer fields of genome data analysis for all they need to know about genetics and genomics throughout their basic science training, clinical placements and beyond. Coverage includes new discoveries—such as ...
Meaningful Cases of Primary Immunodeficiencies, volume IV
Following on from the success of Volume I , Volume II, and Volume III of Meaningful Cases of Primary Immunodeficiencies, we are pleased to launch Volume IV of this Research Topic. The field of Primary immunodeficiency is built upon rare patients and atypical presentations of genetic disorders of the immune system to pediatricians and pediatric clinics. Specific infections, autoimmunity, autoinflammation, and immunophenotyping have been truly instructive as to the power of the human immune system. In many cases, these have been built upon to define new diagnoses and garner instructive new basic immunological mechanisms. The value of a detailed and instructive case report in primary immunodefi...
