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Down Syndrome: From Understanding the Neurobiology to Therapy
Down syndrome (DS) is the most common example of neurogenetic aneuploid disorder leading to mental retardation. In most cases, DS results from an extra copy of chromosome 21 (HSA21) producing deregulated gene expression in brain that gives raise to subnormal intellectual functioning. The topic of this volume is of broad interest for the neuroscience community, because it tackles the concept of neurogenomics, that is, how the genome as a whole contributes to a neurodevelopmental cognitive disorders, such as DS, and thus to the development, structure and function of the nervous system. This volume of Progress in Brain Research discusses comparative genomics, gene expression atlases of the brai...
Mobile DNA: Finding Treasure in Junk
Annotation What we now know about mobile DNA--and the substantial roles it plays in humans, animals, and plants. & bull; & bull;Mobile DNA accounts for more than half of our genome: This book explains the important role it plays in shaping evolutionary change. & bull;A rich, thorough, and accessible introduction for all serious students, practitioners, and researchers in human and medical genetics, molecular biology, or evolutionary biology. & bull;By one of the field's leading researchers, Dr. Haig Kazazian. This book thoroughly reviews our current scientific understanding of the significant role that mobile genetic elements play in the evolution and function of genomes and organisms--from ...
Genetic Breakthroughs-- Their Implications for You and Your Health (Collection)
3 cutting-edge books reveal the latest genetic breakthroughs – and their implications for you, your health, and your world These three cutting-edge books reveal how modern genetics has already transformed the world – and will transform it again and again in the coming years. Mobile DNA book thoroughly reviews our current scientific understanding of the significant role that mobile genetic elements play in the evolution and function of genomes and organisms–from plants and animals to humans. Renowned geneticist Haig Kazazian offers an accessible intellectual history of the field’s research strategies and concerns, explaining how advances have opened up new questions, and how new tools...
Landmarks in Medical Genetics
Advances in genetics over the past 50 years have been dramatically changed the understanding and management of inherited disorders, and are beginning to have a major impact on the practice of medicine overall. The rapidity of these advances means that clinicians and scientists in the field are often unfamiliar with the key research that has led to many developments that now are accepted and familiar. Few have time to search or the original papers, which are scattered and often difficult to obtain. This collection has been edited mainly for medical geneticists and genetics researchers who wish to learn more about how their field originated and developed. Brief, clearly written commentaries on...
Human Nucleotide Expansion Disorders
Human neurological and neuromuscular disorders caused by nucleotide expansion are the focus of growing interest of practicing physicians and of interested biomedical researchers. This volume represents a comprehensive and up-to-date description of many of the better-studied disorders. The authors discuss molecular, clinical and pathological aspects of the diseases as well as our current understanding of their underlying mechanisms.
Molecular and Cytogenetic Studies of Non-disjunction
Trisomy 21 is the most common genetic disorder in humans. The present volume reviews the results of molecular and cytogenetic techniques performed on four organisms--humans, mice, "Drosophila," and yeast. Examined are the association between meiotic recombination and chromosome disjunction, increasing maternal age and non-disjunction in humans, and genetic factors that may contribute to a predisposition to non-disjunction. Molecular analyses involving different human chromosomes, the importance of tissue-specific trisonomy, and the significance of specific etiological agents to non-disjunction are also considered.
