Bøger i Oxford Monographs on Medical Genetics serien

The first broad survey of the role of genetics in public health, with emphasis on the new molecular genetics.

Overgrowth Syndromes is a comprehensive clinical guide to the well-defined genetic disorders (and others that are less well-defined) for which somatic overgrowth is a major manifestation. It details the unique characteristics and known causative genes for this class of disorders, offering clinicians an expert resource for both clinical diagnosis and laboratory confirmation.

As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever.

Obesity is one of the most important contributing factors to disease throughout the world and is an area of great current interest among researchers and clinicians. The genetics of common obesity is complex, and an important thread through this labyrinth is the study of genetic syndromes in which obesity is a major component. By examining the genetic mechanisms of obesity in these syndromes, the authors will shed new light on the genetics of common obesity. This isthe first book on this important and exciting new area and addreses both the molecular and clinical features of the obesity syndromes, providing hard-core information for researchers and practical guidelines for clinicians caring for obese patients. The book is divided into three sections: the first covers approaches for assessing and investigating the obese individual; the second describes nondysmorphic, monogenic forms of obesity; and the third documents key, multisystem obesity syndromes with various genetic etiologies. It is as much a reference book as it is a manual and will appeal to clinical geneticists, obesity researchers, endocrinologists, nutritionists, and medical biologists.

This book covers renal disorders which have a genetic basis, starting from the perspective of clinical and medical genetics, rather than taking as its primary focus the clinical management of these disorders by nephrologists. It is a practical manual which clinicians seeing patients with inherited renal diseases will find themselves referring to often.

Because advances in medical genetics have been so rapid, scientists are often unfamiliar with the key research that has led to many developments that are now familiar. This collection of papers has been edited mainly for medical geneticists and genetics researchers who wish to learn more about how their field originated and developed.

Texts on inborn errors of metabolism (IEMs) have traditionally focused on classical biochemistry, clinical presentation, and standard treatment approaches. Inborn Errors of Metabolism is an expansion on this model, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this volume includes coverage of newborn screenings and an overarching treatment of IEMs as complex diseases ΓÇö how basic alterations can lead to complex secondary and tertiary effects in metabolism that contribute to increasingly recognized natural histories of disease.

This book is a new addition to the Oxford Monographs on Medical Genetics series, providing a comprehensive review of the area of mitochondrial genetics. Since the late 1980s it has been known that mutations in mitochondrial DNA cause disease. The book reviews progress in understanding these diseases made over the past decade and a half.

Authoritative clinical reference on genetic sexual disorders, a field that has been transformed in many areas by molecular genetics.

Psychosocial issues are integral to genetic counselling interactions. They include counsellees' beliefs about the cause of birth defects, and emotions such as anxeity and guilt. This study provides an integrated approach to understanding these issues and their applications to genetic counselling.

This work discusses the basic science of transcriptional regulation, and describes inherited human diseases attributable to mutations in DNA sequences encoding transcription factors or their cognate binding sites.

Rediscovered at the turn of the century, Mendel's laws were found to be applicable to humans but were fraught with problems. This text shows how some of these problems can be explained by incomplete ascertainment, typing errors and modifying genes, and goes on to explore newer genetic processes.

Features information on the subject of mental retardation and developmental delay, and applies it to clinical medicine, providing information useful to neurologists, geneticists, physicians, and pediatricians. Chapters cover normal and abnormal brain structure, neurogenesis, and signal transduction.

The first edition of Genomics and Clinical Medicine provided an overview of genomics-based advances in disease susceptibility, diagnosis, and prediction of treatment outcomes in various areas of medicine. Since its publication, the science of genomics has made tremendous progress, and exciting new developments in biotechnology and bioinformatics have created possibilities that were inconceivable only a few years ago.

Designed for GPs, obstetricians and paediatricians, this reference work on foetal medicine is firmly rooted in clinical practice and based on many years of experience, much of it involving the development and implementation of new techniques for examining the foetus in-utero.

Contains the advances in the genetics and neurobiology of the disease. This book discusses the developments of how the molecular basis of the disorder results in brain degeneration, with coverage of transgenic animal models, neurochemical studies and advances in neuropathology. It covers both neurological and psychiatric aspects.

Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.

This fully revised and updated edition of GENETIC SKIN DISORDERS reflects the most current understanding of the diagnosis, treatment, genetic basis, and differential diagnoses of inherited skin disorders.

Authored by 40 authorities in genetics and dysmorphology, this streamlined new edition offers an authoritative and richly illustrated guide to clinical presentation, associated anomalies, treatment, and prognosis.

Fully revised and updated the new edition of Duchenne Muscular Dystrophy discusses the recent advances in the field of molecular biology for prenatal diagnosis and genetic counselling to the recent pioneering work with anti-sense oligonucleotides, and the possibility of effective RNA therapy.

The fourth edition of the preeminent resource on Huntington's disease is a comprehensive resource on the current knowledge base surrounding this disease. Comprising both updated chapters and seven entirely new chapters, it reflects the major advances that have recently occurred in our understanding of all aspects of this disease.

This is the third edition of the foremost medical reference on genetic hearing loss, updated to include new information on molecular mechanisms. It is an excellent resource for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and for clinical training programs and researchers in hearing sciences.

This reference work should prove relevant, not only to to the student seeking a basic understanding of a particular disease, but also to the physician and the genetic counsellor, through its its discussion of treatments and genetic risk information for families.

Many diseases of the nervous system are difficult to treat but can be prevented when we have adequate genetic information. This work covers the genetics of neurological disorders. It conveys practical clinical advice to neurologists, geneticists and paediatricians, emphasising diagnosis, mode of inheritance and recurrence risks.