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Author: Fernando de Jesus Regateiro
Publisher: Imprensa da Universidade de Coimbra / Coimbra University Press
ISBN: 9728704127
Category : Human genome
Languages : en
Pages : 518
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Book Description
«Manual de Genética Médica» inclui temas cujo conhecimento é fundamental para sustentar um raciocínio em bases genéticas. Cada tema congrega informação fundamental para a percepção dos conceitos e a construção de conhecimento específico, tendo como objectivo o desenvolvimento da capacidade crítica necessária para enfrentar as questões mais frequentes do mundo contemporâneo nesta área do saber e a necessidade de aprender ao longo da vida. São temas deste livro: história e desenvolvimento da genética, bases celulares e moleculares da hereditariedade, regulação da expressão génica, diversidade humana, mutações e reparação do DNA, métodos de estudo do genoma humano, história familiar, heredograma, tipos de hereditariedade, Genética de populações, cálculos de risco, erros inatos do metabolismo, Farmacogenética, Ecogenética, divisão celular, cariótipo humano, alterações cromossómicas numéricas e estruturais, cromossomopatias, Genética do desenvolvimento, anomalias congénitas, genes de regulação da proliferação celular, apoptose, senescência, genes e cancro, terapia génica, aconselhamento genético, ética em genética. Um extenso glossário foi também incluído.
Author: Fernando de Jesus Regateiro
Publisher: Imprensa da Universidade de Coimbra / Coimbra University Press
ISBN: 9728704127
Category : Human genome
Languages : en
Pages : 518
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Book Description
«Manual de Genética Médica» inclui temas cujo conhecimento é fundamental para sustentar um raciocínio em bases genéticas. Cada tema congrega informação fundamental para a percepção dos conceitos e a construção de conhecimento específico, tendo como objectivo o desenvolvimento da capacidade crítica necessária para enfrentar as questões mais frequentes do mundo contemporâneo nesta área do saber e a necessidade de aprender ao longo da vida. São temas deste livro: história e desenvolvimento da genética, bases celulares e moleculares da hereditariedade, regulação da expressão génica, diversidade humana, mutações e reparação do DNA, métodos de estudo do genoma humano, história familiar, heredograma, tipos de hereditariedade, Genética de populações, cálculos de risco, erros inatos do metabolismo, Farmacogenética, Ecogenética, divisão celular, cariótipo humano, alterações cromossómicas numéricas e estruturais, cromossomopatias, Genética do desenvolvimento, anomalias congénitas, genes de regulação da proliferação celular, apoptose, senescência, genes e cancro, terapia génica, aconselhamento genético, ética em genética. Um extenso glossário foi também incluído.
Author: Robert Nussbaum
Publisher: Elsevier Brasil
ISBN: 8535245758
Category : Medical
Languages : pt-BR
Pages : 644
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Book Description
Ao longo de seis edições, Thompson e Thompson – Genética Médica, tem sido um bem estabelecido livro-texto sobre essa área fascinante e envolvente, integrando os princípios clássicos da genética humana com a moderna genética molecular para diagnosticar e manejar uma grande variedade de desordens genéticas. A 7a edição de Thompson e Thompson Genética Médica oferece uma exposição precisa dos princípios fundamentais das genéticas humana e médica. A partir de desenhos ilustrativos, continuamos a enfatizar os genes e os mecanismos moleculares atuando nas doenças humanas. PRINCIPAIS DIFERENCIAIS DESTA EDIÇÃO Um amplo panorama dos mais recentes avanços no diagnóstico molecular, o Projeto do Genoma Humano, a farmacogenética, o desenvolvimento genético e a oncogenética. Melhor compreensão da relação entre a genética básica e a clínica médica com uma variedade dos estudos de casos clínicos. Reconhecer uma ampla variedade de desordens genéticas ilustrativas com orientação visual de mais de 240 ilustrações e fotos de grande qualidade. Inclui Evolve: material complementar on-line em inglês exclusivo para os professores. Inclui Student Consult: material complementar on-line em inglês exclusivo para os estudantes.
Author: Luigi Gedda
Publisher:
ISBN:
Category : Genetics
Languages : en
Pages : 432
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Book Description
Author: Lynn B. Jorde, PhD
Publisher: Elsevier Health Sciences
ISBN: 0323188354
Category :
Languages : en
Pages : 371
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Book Description
Popular for its highly visual, clinical approach, Medical Genetics delivers an accessible yet thorough understanding of this active and fast-changing field. Key updates in this new edition cover the latest developments which are integrated with clinical practice to emphasize the central principles and how they apply to practice. Photographs, illustrations, and tables, along with boxes containing patient/family vignettes demonstrate clinical relevance and enhance visual impact of the material for easier and more effective learning and retention. Includes access to the complete text and images online at studentconsult.com along with 200 additional USMLE-style questions for self-assessment. Mini-summaries, study questions, suggested reading, and a detailed glossary supplement and reinforce what you learn from the text. More than 230 photographs, illustrations, and tables, along with patient/family vignettes clarify difficult concepts and demonstrate clinical significance. Clinical Commentary Boxes help demonstrate how the hard science of genetics has real applications to everyday patient problems and prepare you for problem-based integrated courses. The latest knowledge and research on gene identification, cancer genetics, gene testing and gene therapy, common disorders, ethical and social issues, and much more so you can keep up with current developments in genetics. Student Consult eBook version included with purchase. This enhanced eBook experience allows access to 200 additional USMLE questions, as well as new materials (outlined above) designed to produce a more rounded learning experience.
Author: Luigi Gedda
Publisher:
ISBN:
Category : Medical genetics
Languages : en
Pages : 438
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Book Description
Author: AA. VV.
Publisher: FrancoAngeli
ISBN: 8856842637
Category : Social Science
Languages : it
Pages : 242
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Book Description
1341.38
Author: D. Hunter Best
Publisher: Springer Science & Business Media
ISBN: 1617795291
Category : Medical
Languages : en
Pages : 248
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Book Description
Genetic testing has become commonplace, and clinicians are frequently able to use knowledge of an individual’s specific genetic differences to guide their course of action. Molecular Genetics and Personalized Medicine highlights developments that have been made in the field of molecular genetics and how they have been applied clinically. It will serve as a useful reference for physicians hoping to better understand the role of molecular medicine in clinical practice. In addition, it should also prove to be an invaluable resource for the basic scientist that wants to better understand how advances in the laboratory are being moved from the bench to the bedside. All chapters are written by experts in their fields and include the most up to date medical information. The authors simplify complex genetic concepts and focus on practical patient related issues. The book will be of great value to pathologists, hematologists/oncologists, clinical geneticists, high-risk obstetricians, general practitioners, and physicians in all other medical specialties who utilize genetic testing to direct therapy.
Author: Luc Goeminne
Publisher:
ISBN:
Category :
Languages : en
Pages : 152
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Book Description
Author: Andrew J. Hogan
Publisher: JHU Press
ISBN: 1421420740
Category : Medical
Languages : en
Pages : 279
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Book Description
A history of genetic testing warns that such tests may tell us more than we want to know. Medical geneticists began mapping the chromosomal infrastructure piece by piece in the 1970s by focusing on what was known about individual genetic disorders. Five decades later, their infrastructure had become an edifice for prevention, allowing today’s expecting parents to choose to test prenatally for hundreds of disease-specific mutations using powerful genetic testing platforms. In Life Histories of Genetic Disease, Andrew J. Hogan explores how various diseases were “made genetic” after 1960, with the long-term aim of treating and curing them using gene therapy. In the process, he explains, these disorders were located in the human genome and became targets for prenatal prevention, while the ongoing promise of gene therapy remained on the distant horizon. In narrating the history of research that contributed to diagnostic genetic medicine, Hogan describes the expanding scope of prenatal diagnosis and prevention. He draws on case studies of Prader-Willi, fragile X, DiGeorge, and velo-cardio-facial syndromes to illustrate that almost all testing in medical genetics is inseparable from the larger—and increasingly “big data”–oriented—aims of biomedical research. Hogan also reveals how contemporary genetic testing infrastructure reflects an intense collaboration among cytogeneticists, molecular biologists, and doctors specializing in human malformation. Hogan critiques the modern ideology of genetic prevention, which suggests that all pregnancies are at risk for genetic disease and should be subject to extensive genomic screening. He examines the dilemmas and ethics of the use of prenatal diagnostic information in an era when medical geneticists and biotechnology companies have begun offering whole genome prenatal screening—essentially searching for any disease-causing mutation. Hogan’s focus and analysis is animated by ongoing scientific and scholarly debates about the extent to which the preventive focus in contemporary medical genetics resembles the aims of earlier eugenicists. Written for historians, sociologists, and anthropologists of science and medicine, as well as bioethics scholars, physicians, geneticists, and families affected by genetic conditions, Life Histories of Genetic Disease is a profound exploration of the scientific culture surrounding malformation and mutation.
Author: Luigi Gedda
Publisher:
ISBN:
Category : Medical genetics
Languages : en
Pages : 467
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Book Description
