Elementos de Genética Médica + StudentConsult


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.




Manual de Genética Médica


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.




De genetica medica


Book Description




Medical genetics 1


Book Description

Medical genetics encompasses many different areas, including the clinical practice of doctors, genetic counselors and nutritionists, clinical diagnostic laboratory activities and research on the causes and inheritance of genetic disorders. Examples of conditions that are within the scope of medical genetics include birth defects and dysmorphology, mental retardation, autism, mitochondrial disorders, skeletal dysplasia, connective tissue disorders, cancer genetics, teratogens and prenatal diagnosis. Medical genetics is becoming increasingly relevant for many common diseases. Overlaps with other medical specialties are beginning to emerge, as recent advances in genetics are revealing etiologies for neurological, endocrine, cardiovascular, pulmonary, ophthalmological, renal, psychiatric and dermatological diseases. Summary of the contents of this book: Genetic disorders: Classification Chromosomal disorders Mitochondrial diseases: Mitochondrial genetics Proteopathy The human genome and the chromosomal base of inheritance Cancer cytogenetics The human genome and its chromosomes DNA structure: a brief summary Organization of human chromosomes Cell division The human karyotype Human gametogenesis and fertilization Importance and medical significance of Mitosis and Meiosis Structure and function of the human genome Genome Keys




Cell Biology and Genetics


Book Description

Building on the success of the first edition, this second edition has been written by students for students, giving a first hand perspective of what it takes to make the grade at cell biology and genetics.




Organization of human chromosomes


Book Description

Since 2012, thousands of human genomes have been completely sequenced, and many more have been mapped at lower levels of resolution. The resulting data is used worldwide in biomedical sciences, anthropology, forensic medicine and other branches of science. Recent results suggest that most of the vast amounts of non-coding DNA within the genome have associated biochemical activities, including regulation of gene expression, organization of chromosome architecture and signals that control epigenetic inheritance. Summary of the contents of this book: Organization of human chromosomes Nuclear organization and rearrangements in pluripotent cells Organization of the human genome Repetitive elements and human disorders Mitochondrial DNA Cell division The cell cycle The phases of mitosis The human karyotype Karyotype analysis Types of staining Meiosis Cytokinesis The Second Meiotic Division (Meiosis II)




Classification of genetic diseases


Book Description

In clinical practice the main meaning of genetics is its role as the cause of a large number of diseases, which can be produced by genetic factors alone or by a combination of genetic factors plus the influence of environmental factors. Chromosomal disorders, genetic tests, genetic mapping, identification. This is a recommended text, easy to read for those who get lost in the complicated interpretation of genetic disorders. Summary of the contents of this book: Genetic disorders: Classification Types of genetic diseases Single gene defects Multifactorial inheritance (complex) Chromosomal disorders Mitochondrial diseases: Mitochondrial genetics Genetic classification of mitochondrial diseases Proteopathy Proteopathies List The human genome and the chromosomal base of inheritance Clinical diagnosis of a genetic disease Genetic testing Types of genetic tests Genetic mapping and disease identification How are physical maps made and used? The need to integrate genetic physical maps Cancer cytogenetics The human genome and its chromosomes Human chromosome ideograms DNA structure: a brief summary




Gametogenesis and human genome


Book Description

The biological DNA contained in the sperm is formed by the process called gametogenesis. It consists of different phases after which male and female sex cells are formed. The structure of DNA provides a mechanism for inheritance. The conformation adopted by the DNA depends on the level of hydration, the sequence of the DNA, the amount and direction of the super-winding, the chemical modifications of the bases, the type and concentration of metal ions and the presence of polyamines in solution.




Developmental Biology


Book Description




The Gene


Book Description

The #1 NEW YORK TIMES Bestseller The basis for the PBS Ken Burns Documentary The Gene: An Intimate History Now includes an excerpt from Siddhartha Mukherjee’s new book Song of the Cell! From the Pulitzer Prize–winning author of The Emperor of All Maladies—a fascinating history of the gene and “a magisterial account of how human minds have laboriously, ingeniously picked apart what makes us tick” (Elle). “Sid Mukherjee has the uncanny ability to bring together science, history, and the future in a way that is understandable and riveting, guiding us through both time and the mystery of life itself.” —Ken Burns “Dr. Siddhartha Mukherjee dazzled readers with his Pulitzer Prize-winning The Emperor of All Maladies in 2010. That achievement was evidently just a warm-up for his virtuoso performance in The Gene: An Intimate History, in which he braids science, history, and memoir into an epic with all the range and biblical thunder of Paradise Lost” (The New York Times). In this biography Mukherjee brings to life the quest to understand human heredity and its surprising influence on our lives, personalities, identities, fates, and choices. “Mukherjee expresses abstract intellectual ideas through emotional stories…[and] swaddles his medical rigor with rhapsodic tenderness, surprising vulnerability, and occasional flashes of pure poetry” (The Washington Post). Throughout, the story of Mukherjee’s own family—with its tragic and bewildering history of mental illness—reminds us of the questions that hang over our ability to translate the science of genetics from the laboratory to the real world. In riveting and dramatic prose, he describes the centuries of research and experimentation—from Aristotle and Pythagoras to Mendel and Darwin, from Boveri and Morgan to Crick, Watson and Franklin, all the way through the revolutionary twenty-first century innovators who mapped the human genome. “A fascinating and often sobering history of how humans came to understand the roles of genes in making us who we are—and what our manipulation of those genes might mean for our future” (Milwaukee Journal-Sentinel), The Gene is the revelatory and magisterial history of a scientific idea coming to life, the most crucial science of our time, intimately explained by a master. “The Gene is a book we all should read” (USA TODAY).