Xem 1-20 trên 380 kết quả Genetic disease
  • (BQ) Part 1 book "Pathophysiology of disease flashcards" presents the following contents: Genetic disease, disorders of the immune system, infectious diseases, neoplasia, blood disorders, nervous system disorders, diseases of the skin, pulmonary disease, cardiovascular disorders heart disease.

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  • (BQ) Part 1 book "Color atlas of oral diseases" presents the following contents: Normal anatomic variants, developmental anomalies, genetic diseases, mechanical injuries, oral lesions due to chemical agents, oral lesions due to smoking and heat, oral lesions due to drugs,..

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  • (BQ) Part 1 book "Pathophysiology of disease flashcards - 120 case based flashcard with Q&A" presents the following contents: Genetic disease, disorders of the immune system, infectious diseases, neoplasia, blood disorders, nervous system disorders, diseases of the skin, pulmonary disease, cardiovascular disorders - Heart disease, cardiovascular disorders - Vascular disease.

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  • Readable, well organized, and easy to use, this outstanding encyclopedia signifies a timely and major advance in providing in-depth and comprehensive coverage of medical genetics for the lay reader. The two volumes include nearly 400 substantive entries on genetic diseases and conditions as well as information on basic genetics concepts such as DNA, chromosomes, genetic testing, and pedigree analysis and construction (genetic family history).

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  • (BQ) Part 1 book "Thompson & Thompson genetics in medicine" presents the following contents: Introduction to the human genome, human genetic diversity-mutation and polymorphism principles of clinical cytogenetics and genome analysis, the chromosomal and genomic basis of disease-disorders of the autosomes and sex chromosomes, genetic variation in populations,...

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  • Harrison's Internal Medicine Chapter 79. Cancer Genetics Cancer Is a Genetic Disease Cancer arises through a series of somatic alterations in DNA that result in unrestrained cellular proliferation. Most of these alterations involve actual sequence changes in DNA (i.e., mutations). They may arise as a consequence of random replication errors, exposure to carcinogens (e.g., radiation), or faulty DNA repair processes. While most cancers arise sporadically, familial clustering of cancers occurs in certain families that carry a germline mutation in a cancer gene.

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  • Transmission of Genetic Disease Origins and Types of Mutations A mutation can be defined as any change in the primary nucleotide sequence of DNA regardless of its functional consequences. Some mutations may be lethal, others are less deleterious, and some may confer an evolutionary advantage. Mutations can occur in the germline (sperm or oocytes); these can be transmitted to progeny. Alternatively, mutations can occur during embryogenesis or in somatic tissues.

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  • Human genetics is the medical field with the most rapid and, one can say, overwhelming progress. The medical practitioner constantly needs to be up-to-date on the newest developments in his field. The diversity and rapid dynamics of advancements in genetics can sometimes overcome the assimilation possibilities of one person; thus, overspecialization for narrowing and deepening the research focus is needed. Consequently, expert opinion is much valued. This book aims to provide exactly such opinions regarding several genetic diseases.

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  • I wrote the first edition of this book more than 20 years ago, and the discoveries in genetics since then have been phenomenal. The new knowledge and applications of human genetics to health and to society have made it even more necessary that nurses "think genetically" in their practice and, indeed in their lives. Genetic factors can be responsible in some way for both direct and indirect disease causation; for variation that determines predisposition, susceptibility, and resistance to disease and also for response to therapeutic management.

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  • Transcriptional Activation and Repression Every gene is controlled uniquely, whether in its spatial or temporal pattern of expression or in its response to extracellular signals. It is estimated that transcription factors account for ~30% of expressed genes. A growing number of identified genetic diseases involve transcription factors (Table 62-2). The MODY (maturity-onset diabetes of the young) disorders are representative of this group of diseases; mutations in several different islet cell–specific transcription factors cause various forms of MODY (Chap. 338).

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  • Transgenic Mice as Models of Genetic Disease Several organisms have been studied extensively as genetic models, including Mus musculus (mouse), Drosophila melanogaster (fruit fly), Caenorhabditis elegans (nematode), Saccharomyces cerevisiae (baker's yeast), and Escherichia coli (colonic bacterium). The ability to use these evolutionarily distant organisms as genetic models that are relevant to human physiology reflects a surprising conservation of genetic pathways and gene function.

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  • Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Critical Care giúp cho các bạn có thêm kiến thức về ngành y học đề tài: Protein interactions in human genetic diseases...

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  • The ATP-binding cassette (ABC) transporters are a superfamily of mem-brane proteins that are best known for their ability to transport a wide variety of exogenous and endogenous substances across membranes against a concentration gradient via ATP hydrolysis.

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  • (BQ) Part 1 book "Pathophysiology of disease - An introduction to clinical medicine" presents the following contents: Genetic disease, disorders of the immune system, infectious diseases, neoplasia, nervous system disorders, diseases of the skin, pulmonary disease.

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  • (BQ) Part 1 book "Rubin's pathology - Clinicopathologic foundations of medicine" presentation of content: Cell adaptation, injury and death; inlammation; repair, regeneration and fibrosis; developmental and genetic diseases, hemodynamic disorders, systemic autoimmune diseases, obesity and diabetes mellitus, the amyloidoses,... and other contents.

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  • (BQ) Part 1 book "Lippincotts illustrated Q&A review of rubin's pathology" presentation of content: Cell injury, inflammation, repair, regeneration, and fibrosis, immunopathology, developmental and genetic diseases, environmental and nutritional pathology, hemodynamic disorders, infectious and parasitic diseases,...

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  • Population Screening Mass genetic screening programs require tests of high enough sensitivity and specificity to be cost-effective. An effective screening program should fulfill the following criteria: that the tested disorder is prevalent and serious; that it can be influenced presymptomatically through lifestyle changes, screening, or medications; and that identification of risk does not result in undue discrimination or harm.

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  • Science arises from the very human desire to understand and control the world. Over the course of history, we humans have gradually built up a grand edifice of knowledge that enables us to predict, to varying extents, the weather, the motions of the planets, solar and lunar eclipses, the courses of diseases, the rise and fall of economic growth, the stages of language development in children, and a vast panorama of other natural, social, and cultural phenomena. More recently we have even come to understand some fundamental limits to our abilities to predict.

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  • Inflammatory bowel disease research is changing. Progress in defining and treating these diseases is advancing in lock step with the furious pace of technological advances that continue to refine the tools of discovery. With sequencing of the entire genome completed, genetics research is providing direction for molecular and immunological in vivo and in vitro investigation, which in turn directs the development of targeted therapeutics.

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  • Harrison's Internal Medicine Chapter 64. The Practice of Genetics in Clinical Medicine Implications of Molecular Genetics for Internal Medicine The field of medical genetics has traditionally focused on chromosomal abnormalities (Chap. 63) and Mendelian disorders (Chap. 62). However, there is genetic susceptibility to many common adult-onset diseases, including atherosclerosis, cardiac disorders, asthma, hypertension, autoimmune diseases, diabetes mellitus, macular degeneration, Alzheimer's disease, psychiatric disorders, and many forms of cancer.

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