Emery Elementos de genética médica y genómica

Emery Elementos de genética médica y genómica PDF Author: Peter D. Turnpenny
Publisher:
ISBN: 9788413821689
Category :
Languages : es
Pages : 434

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Book Description
Sección A Bases científicas de la genética humana1 Historia y repercusión de la genética en la medicina2 Bases celulares y moleculares de la herencia3 Cromosomas y división celular4 Determinación de la causa de los trastornos monogénicos mediante la identificación de los genes causantes de las enfermedades5 Técnicas de laboratorio para el diagnóstico de enfermedades monogénicas6 Patrones de herencia7 Genética de poblaciones y matemática8 Cálculo de riesgos9 Genética del desarrollo Sección B Genética en medicina y medicina genómica10 Enfermedades frecuentes, genética poligénica y multifactorial11 Cribado de las enfermedades genéticas12 Hemoglobina y hemoglobinopatías13 Inmunogenética14 Genética del cáncer... y cáncer genético15 Farmacogenómica, medicina de precisión y tratamiento de las enfermedades genéticasSección C Genética clínica, asesoramiento y ética16 Anomalías congénitas, síndromes dismórficos y discapacidad intelectual17 Trastornos cromosómicos18 Metabolopatías congénitas19 Principales trastornos monogénicos20 Pruebas prenatales y genética de la reproducción21 Asesoramiento genético22 Aspectos éticos y legales en la genética médica.

Emery Elementos de genética médica y genómica

Emery Elementos de genética médica y genómica PDF Author: Peter D. Turnpenny
Publisher:
ISBN: 9788413821689
Category :
Languages : es
Pages : 434

Get Book Here

Book Description
Sección A Bases científicas de la genética humana1 Historia y repercusión de la genética en la medicina2 Bases celulares y moleculares de la herencia3 Cromosomas y división celular4 Determinación de la causa de los trastornos monogénicos mediante la identificación de los genes causantes de las enfermedades5 Técnicas de laboratorio para el diagnóstico de enfermedades monogénicas6 Patrones de herencia7 Genética de poblaciones y matemática8 Cálculo de riesgos9 Genética del desarrollo Sección B Genética en medicina y medicina genómica10 Enfermedades frecuentes, genética poligénica y multifactorial11 Cribado de las enfermedades genéticas12 Hemoglobina y hemoglobinopatías13 Inmunogenética14 Genética del cáncer... y cáncer genético15 Farmacogenómica, medicina de precisión y tratamiento de las enfermedades genéticasSección C Genética clínica, asesoramiento y ética16 Anomalías congénitas, síndromes dismórficos y discapacidad intelectual17 Trastornos cromosómicos18 Metabolopatías congénitas19 Principales trastornos monogénicos20 Pruebas prenatales y genética de la reproducción21 Asesoramiento genético22 Aspectos éticos y legales en la genética médica.

Elementos de Genética Médica + StudentConsult

Elementos de Genética Médica + StudentConsult PDF Author: Peter D. Turnpenny
Publisher: Elsevier
ISBN: 8491132376
Category : Medical
Languages : en
Pages : 410

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Book Description
Nueva edición de un texto clásico y muy consolidado a través de sus 15 ed cuyo objetivo es sentar las bases de la genética médica a la vez que ofrece un mayor detalle en áreas como la epigenética y la expresión génica, tratados menos frecuentemente en los textos de genética para estudiantes. Sigue la misma filosofía que las ediciones anteriores ya que ofrece un equilibrio perfecto entre la genética como ciencia básica, la genética aplicada a la medicina y la genética clínica. El público objetivo son los estudiantes de Medicina, aunque también es de interés para estudiantes de grado de Genética, Ingeniería genética, Biología, Biotecnología. De forma secudaria el libro puede utilizarse como material de consulta para cursos de postgrado y máster en Genética molecular e ingeniería genética. La nueva edición actualiza todos sus contenidos, aunque especialmente renovadas son las secciones correspondientes a la tecnología del ADN y sus aplicaciones clínicas, la farmacogenética, la inmunogenética y la medicina personalizada a través del patrón genético. El texto incluye acceso a SC.com (en inglés) en el que se encuentran disponibles un banco de preguntas de autoevaluación y casos clínicos. 15a edición rigurosamente actualizada y revisada para incorporar todas las innovaciones de esta disciplina manteniendo el nivel de excelencia de las anteriores. Dividida en tres secciones reestructuradas, que facilitarán a diferentes tipos de lectores diferentes tipos de lectura y consulta: Base científica de la genética humana, Genética en medicina y medicina genómica y Genética clínica, asesoramiento y ética. Texto que constituye una herramienta fundamental para el conocimiento de esta compleja pero esencial disciplina, tanto para estudiantes de Medicina como para posgraduados que deseen mejorar su comprensión y su conocimiento de la genética. Edición original en inglés disponible en Studenconsult.com, lo que proporciona dos libros en uno. El formato electrónico permite el acceso al contenido completo, incluyendo preguntas de autoevaluación interactivas.

Emery's Elements of Medical Genetics

Emery's Elements of Medical Genetics PDF Author: Robert F. Mueller
Publisher:
ISBN:
Category : Medical
Languages : en
Pages : 388

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Book Description
Today's medical student needs to understand the principles of genetics rather than accumulate detailed facts. This text explains the essential themes of medical genetics whilst remaining in control of the developments in this subject.

Lippincott Illustrated Reviews

Lippincott Illustrated Reviews PDF Author: Denise R. Ferrier
Publisher: LWW
ISBN: 9781496363541
Category : Biochemistry
Languages : en
Pages : 560

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Book Description
Lippincott Illustrated Reviews: Biochemistry is the long-established, first-and-best resource for the essentials of biochemistry. Students rely on this text to help them quickly review, assimilate, and integrate large amounts of critical and complex information. For more than two decades, faculty and students have praised this best-selling biochemistry textbook for its matchless illustrations that make concepts come to life. Master all the latest biochemistry knowledge, thanks to extensive revisions and updated content throughout, including an expanded chapter on macronutrients, a completely new chapter on micronutrients, and much more. A bonus chapter on blood clotting with new, additional questions is included online. See how biochemistry applies to everyday healthcare through integrative, chapter-based cases as well as "Clinical" boxes throughout. Learn and study effortlessly with a concise outline format, abundant full-color artwork, and chapter overviews and summaries. Look for icons that signal an animation at thePoint or an integrative clinical case in the Appendix. Assess and reinforce your learning with more than 200 new review questions available online.

Contributions to Statistical Analysis

Contributions to Statistical Analysis PDF Author: Rafael Hernandez-Nieto
Publisher: Createspace Independent Pub
ISBN: 9781588987150
Category : Mathematics
Languages : en
Pages : 228

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Book Description
In this work, two new coefficients have been proposed: the Coefficient of Proportional Variance (Cpv) and the Coefficient of Content Validity (Ccv). The Coefficient of Proportional Variance proposes a solution to the problem of measuring and evaluating the relative variability of a given distribution, obviating the problems of subjective interpretation and value judgments. The mathematical relationship derived from the Cpv allows for a more precise and more scientific interpretation of relative variability of data. The Coefficient of Content Validity permits the calculation of the content validity for each item, as well as the total content validity, of any data collection instrument that has been subjected to the evaluation of several judges (Panel of Experts Technique). Until now, according to the psychometric and statistical literature, a quantitative estimator of the content validity of a measuring instrument had not been achieved.

Bean Production Problems

Bean Production Problems PDF Author: Centro Internacional de Agricultura Tropical
Publisher: Agribookstore/Winrock
ISBN:
Category : Gardening
Languages : en
Pages : 444

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Book Description


Host Response to International Parasitic Zoonoses

Host Response to International Parasitic Zoonoses PDF Author: Hajime Ishikura
Publisher: Springer Science & Business Media
ISBN: 4431682813
Category : Medical
Languages : en
Pages : 129

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Book Description
Parasitic zoonoses, the parasitic diseases transmitted between humans and other vertebrate animals, are widespread. The increasing pace of internationalization changes in diet and easy movement from one part of the world to another has caused parasitic zoonoses to be more prevalent. Consequently, these diseases have become the focus of recent research by parasitologists and pathologists whose work is presented in this book. Included in addition to the pathology of parasitic zoonoses and recent trends in research of imported parasites are the classification of phenotypes of anisakid nematodes, the immunohistopathological diagnostic method, and molecular technology to detect and diagnose parasites. Also included are papers on parasitology and international health and the pathology of cerebral malaria. With 38 color illustrations, this book is an invaluable resource for parasitologists, pathologists, and clinicians.

Samples:From the Patient to the Laboratory

Samples:From the Patient to the Laboratory PDF Author: Walter G. Guder
Publisher: John Wiley & Sons
ISBN: 3527612513
Category : Medical
Languages : en
Pages : 115

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Book Description
This forth updated edition contains the latest developments in analytical techniques. An international team of authors summarizes the information on biological influences, analytical interferences and on the variables affecting the collection, transport and storage as well as preparation of samples. They cover age, gender, race, pregnancy, diet, exercise and altitude, plus the effects of stimulants and drugs. National and international standards are described for sampling procedures, transport, sample identification and all safety aspects, while quality assurance procedures are shown for total laboratory management. In addition, the authors provide a glossary as well as a separate list of analytes containing the available data on reference intervals, biological half-life times, stability and influence and interference factors. For everyone involved in patient care and using or performing laboratory tests.

The Dance of Change

The Dance of Change PDF Author: Peter M. Senge
Publisher: Crown Currency
ISBN: 0804153175
Category : Business & Economics
Languages : en
Pages : 610

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Book Description
Since Peter Senge published his groundbreaking book The Fifth Discipline, he and his associates have frequently been asked by the business community: "How do we go beyond the first steps of corporate change? How do we sustain momentum?" They know that companies and organizations cannot thrive today without learning to adapt their attitudes and practices. But companies that establish change initiatives discover, after initial success, that even the most promising efforts to transform or revitalize organizations—despite interest, resources, and compelling business results—can fail to sustain themselves over time. That's because organizations have complex, well-developed immune systems, aimed at preserving the status quo. Now, drawing upon new theories about leadership and the long-term success of change initiatives, and based upon twenty-five years of experience building learning organizations, the authors of The Fifth Discipline Fieldbook show how to accelerate success and avoid the obstacles that can stall momentum. The Dance of Change, written for managers and executives at every level of an organization, reveals how business leaders can work together to anticipate the challenges that profound change will ultimately force the organization to face. Then, in a down-to-earth and compellingly clear format, readers will learn how to build the personal and organizational capabilities needed to meet those challenges. These challenges are not imposed from the outside; they are the product of assumptions and practices that people take for granted—an inherent, natural part of the processes of change. And they can stop innovation cold, unless managers at all levels learn to anticipate them and recognize the hidden rewards in each challenge, and the potential to spur further growth. Within the frequently encountered challenge of "Not Enough Time," for example—the lack of control over time available for innovation and learning initiatives—lies a valuable opportunity to reframe the way people organize their workplaces. This book identifies universal challenges that organizations ultimately find themselves confronting, including the challenge of "Fear and Anxiety"; the need to diffuse learning across organizational boundaries; the ways in which assumptions built in to corporate measurement systems can handcuff learning initiatives; and the almost unavoidable misunderstandings between "true believers" and nonbelievers in a company. Filled with individual and team exercises, in-depth accounts of sustaining learning initiatives by managers and leaders in the field, and well-tested practical advice, The Dance of Change provides an insider's perspective on implementing learning and change initiatives at such corporations as British Petroleum, Chrysler, Dupont, Ford, General Electric, Harley-Davidson, Hewlett-Packard, Mitsubishi Electric, Royal DutchShell, Shell Oil Company, Toyota, the United States Army, and Xerox. It offers crucial advice for line-level managers, executive leaders, internal networkers, educators, and others who are struggling to put change initiatives into practice.

Evolution of Cardio-Metabolic Risk from Birth to Middle Age

Evolution of Cardio-Metabolic Risk from Birth to Middle Age PDF Author: Gerald S. Berenson
Publisher: Springer
ISBN: 9789400799363
Category : Medical
Languages : en
Pages : 0

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Book Description
That precursors of adult coronary artery disease, hypertension, and type II diabetes begin in childhood have been clearly established by the Bogalusa Heart Study. This unique research program has been able to follow a biracial (black/white) population over 35 years from childhood through mid-adulthood to provide perspectives on the natural history of adult heart diseases. Not only do these observations describe trajectories of cardio-metabolic risk variables leading to these diseases but provide a rationale for the need to begin prevention beginning in childhood. The trajectories of the burden of cardio-metabolic risk variables in the context of their fetal origin and chromosome telomere dynamics provide some insight into the metabolic imprinting in utero and aging process. The observed racial contrasts on cardio-metabolic risk variables implicate various biologic pathways interacting with environment contributing to the high morbidity and mortality from related diseases in our population. To address the seriousness of the onset of cardiovascular disease in youth, approaches to primordial prevention are described focussing on childhood health education as an important aspect of Preventive Cardiology.