Second author, Bruce R. Korf, is with the Univ. of Alabama, Birmingham. Textbook provides concise information on developmental biology, medical genetics, and clinical genetics. Includes basic biologic concepts, principles of genetics, and the clinical application of those principles. Extensively illustrated. For medical students. Softcover. DNLM: Genetics, Medical.
Overgrowth Syndromes presents a broad yet in-depth discussion of children who are large at birth or experience excessive postnatal growth or some combination of increased weight, length, and head circumference. Many of these syndromes are associated with an increased frequency of tumors. The book is important because of the ever-increasing number of newly identified overgrowth syndromes and the rapid progression of molecular knowledge of these conditions. It covers: Beckwith Wiedemann syndrome, Simpson-Golabi-Behmel syndrome, Sotos syndrome, Proteus syndrome, Bannayan-Riley-Ruvalcaba syndrome, Klippel-Trenaunay syndrome, neurofibromatosis, and fragile X syndrome, among other topics. Each chapter provides a historical perspective and deals with epidemiology, etiology, and molecular biology when known, clinical and pathological features, diagnostic criteria, and differential diagnosis. The book is encyclopedic in scope. It will be of value to pediatricians, medical geneticists, oncologists, hematologists, surgeons, pathologists, radiologists, dermatologists, nephrologists, and molecular biologists.
Huntington's disease, or Huntington's chorea, is a progressive genetic disease marked by death of brain cells coupled with loss of muscular control and coordination, declining mental abilities, and erratic behavior. Currently, this form of dementia has no cure. "Huntington's Disease" introduces this disease, detailing its history and progression, and discusses the search for the gene that causes it and the development of genetic tests for the gene. This title also addresses the ethical questions of testing people for a disease whose symptoms typically develop later in life.
This companion to Brenner and Rector's The Kidney offers a state-of-the-art summary of the most recent advances in renal genetics. Molecular and Genetic Basis for Renal Disease provides the nephrologist with a comprehensive look at modern investigative tools in nephrology research today, and reviews the molecular pathophysiology of the nephron as well as the most common genetic and acquired renal diseases. A comprehensive clinical review of Medelian renal disease is also be included.
Detailed review of the molecular anatomy and pathophysiology of the nephron that provides relevant basic science to consider when diagnosing and managing patients with these disorders.
This volume will explore the latest findings in research into the genetics of breast and reproductive cancers, covering the epidemiological aspects of these cancers, their etiology, the effect of environment on genes and cancer etiology, and how research in this area can lead to development of preventative measures and treatments.
Recent studies have indicated that epigenetic processes may play a major role in both cellular and organismal aging. These epigenetic processes include not only DNA methylation and histone modifications, but also extend to many other epigenetic mediators such as the polycomb group proteins, chromosomal position effects, and noncoding RNA. The topics of this book range from fundamental changes in DNA methylation in aging to the most recent research on intervention into epigenetic modifications to modulate the aging process. The major topics of epigenetics and aging covered in this book are: 1) DNA methylation and histone modifications in aging; 2) Other epigenetic processes and aging; 3) Impact of epigenetics on aging; 4) Epigenetics of age-related diseases; 5) Epigenetic interventions and aging: and 6) Future directions in epigenetic aging research.
The most studied of epigenetic processes, DNA methylation, has been associated with cellular aging and aging of organisms for many years. It is now apparent that both global and gene-specific alterations occur not only in DNA methylation during aging, but also in several histone alterations. Many epigenetic alterations can have an impact on aging processes such as stem cell aging, control of telomerase, modifications of telomeres, and epigenetic drift can impact the aging process as evident in the recent studies of aging monozygotic twins.
Numerous age-related diseases are affected by epigenetic mechanisms. For example, recent studies have shown that DNA methylation is altered in Alzheimer’s disease and autoimmunity. Other prevalent diseases that have been associated with age-related epigenetic changes include cancer and diabetes. Paternal age and epigenetic changes appear to have an effect on schizophrenia and epigenetic silencing has been associated with several of the progeroid syndromes of premature aging. Moreover, the impact of dietary or drug intervention into epigenetic processes as they affect normal aging or age-related diseases is becoming increasingly feasible.
This book provides an overview of the recent advances in the genetics of respiratory control in health and disease. The objective of the book is to bring together top-level contributions on all aspects of the genetics of respiratory control. These include molecular aspects of respiratory neurodevelopment from embryonic to postnatal life, molecular biology of human respiratory control disorders, and interactions between genetics and plasticity in respiratory control. The book will also show how combined studies in humans and mouse models have helped to improve our understanding of the mechanisms that underlie genetically determined respiratory control disorders with the goal of developing new therapeutic interventions.
Anyone who attempts to read genetics or epidemiology research literature needs to understand the essentials of biostatistics. This book, a revised new edition of the successful Essentials of Biostatistics has been written to provide such an understanding to those who have little or no statistical background and who need to keep abreast of new findings in this fast moving field. Unlike many other elementary books on biostatistics, the main focus of this book is to explain basic concepts needed to understand statistical procedures.
This Book:
* Surveys basic statistical methods used in the genetics and epidemiology literature, including maximum likelihood and least squares. * Introduces methods, such as permutation testing and bootstrapping, that are becoming more widely used in both genetic and epidemiological research.
* Is illustrated throughout with simple examples to clarify the statistical methodology. * Explains Bayes’ theorem pictorially. * Features exercises, with answers to alternate questions, enabling use as a course text.
Written at an elementary mathematical level so that readers with high school mathematics will find the content accessible. Graduate students studying genetic epidemiology, researchers and practitioners from genetics, epidemiology, biology, medical research and statistics will find this an invaluable introduction to statistics.
A new book in the Genetics Series â?“ convenient reference guides designed to help clinicians apply the wealth of new genetic information to their clinical practice. The series is edited by medical geneticist Eli Hatchwell of Cold Spring Harbor Laboratory, New York, and each book is authored by respected authorities in the field.
Surgeons need to know about genetics and how it interacts with modern surgical practice because inherited diseases contribute to a substantial proportion of the surgical workload. Recognition of a positive history of disease in a family will allow genetic testing and precise diagnosis, leading to the ability to presymptomatically screen at-risk members of a family and allow screening and prevention strategies to be implemented. This book will provide surgeons with an introduction to the principles of genetics and information on common surgical conditions that have a hereditary tendency.
Genetic Diseases of the Kidney identifies and analyzes genetic abnormalities causing renal diseases in human subjects. Although in a sense the genome contains all the instructions required for the formation of a phenotype, the information is encoded in an extremely complicated fashion. In primary genetic diseases, the genetic instruction specifies a phenotype clearly linked with a discreet lesion confined to the kidney. However, the genetic disturbance may be imbedded in a complicated physiologic ensemble, so that the nexus between the genetic disturbance and the phenotype may be obscured; in consequence, the causal sequence is extremely difficult to unravel. In many instances the renal disease is one component of a complicated systemic hereditary disease, either monogenic or polygenic. Indeed, renal disease may arise as the sum of minor inputs from many different, seemingly unrelated genes, so that the genetic contributions may be difficult to identify. Confounding the problem further are environmental influences, originating either in the chromosomal environment from modifier genes, or in the extra-chromosomal environmental from intrauterine or postnatal influences. These considerations have determined both the organization of the text as well as the detailed description of the genetic disorders and the physiologic derangements that emerge.
* Lays the essential foundation of mammalian genetics principles for medical professionals with little to no background in genetics * Analyzes specific renal diseases - both monogenic disorders confined to the kidney as well as systemic diseases with renal involvement - and explains their genetic causes. *World-renowned editors and authors offer expert frameworks for understanding the links between genes and complex clinical disorders (i.e., lupus, diabetes, HIV, and hypertension)
