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Human Genetics concerns the study of genetic forces in man. By studying our genetic make-up we are able to understand more about our heritage and evolution. Some of the original, and most significant research in genetics centred around the study of the genetics of complex diseases - genetic epidemiology. This is the third in a highly successful series of books based on articles from the Encyclopedia of Biostatistics. This volume will be a timely and comprehensive reference, for a subject that has seen a recent explosion of interest following the completion of the first draft of the Human Genome Mapping Project. The editors have updated the articles from the Human Genetics section of the EoB, have adpated other articles to give them a genetic feel, and have included a number of newly commissioned articles to ensure the work is comprehensive and provides a self-contained reference.
Praise from the reviews: "Without reservation, I endorse this text as the best resource I've encountered that neatly introduces and summarizes many points I've learned through years of experience. The gems of truth found in this book will serve well those who wish to apply bioinformatics in their daily work, as well as help them advise others in this capacity." CIRCGENETICS "This book may really help to get geneticists and bioinformaticians on 'speaking-terms'... contains some essential reading for almost any person working in the field of molecular genetics." EUROPEAN JOURNAL OF HUMAN GENETICS "... an excellent resource... this book should ensure that any researcher's skill base is maintain...
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Rosenberg's Molecular and Genetic Basis of Neurologic and Psychiatric Disease, Sixth Edition: Volume One, provides a comprehensive introduction and reference to the foundations and key practical aspects relevant to neurologic and psychiatric disease. A favorite of over three generations of students, clinicians and scholars, this new edition retains and expands the informative, concise and critical tone of the first edition. This is an essential reference for general medical practitioners, neurologists, psychiatrists, geneticists, and related professionals, and for the neuroscience and neurology research community. The content covers all aspects essential to the practice of neurogenetics to i...
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. Organized with the needs of busy clinicians in mind, it offers detailed clinical guidance on the signs, symptoms, mode of inheritance, recurrence risk, and diagnosis of over 300 skin disorders, all in an accessible, at-a-glance format. Annotated bibliographies highlight the most relevant and up-to-date medical literature. Newly compiled lists of support groups, both national and international, for patients and their families supplement the ample resources for medical professionals. Informed...
Genetic Diagnosis of Endocrine Disorders, Second Edition provides users with a comprehensive reference that is organized by endocrine grouping (i.e., thyroid, pancreas, parathyroid, pituitary, adrenal, and reproductive and bone), discussing the genetic and molecular basis for the diagnosis of various disorders. The book emphasizes the practical nature of diagnosing a disease, including which tests should be done for the diagnosis of diabetes mellitus in adults and children, which genes should be evaluated for subjects with congenital hypothyroidism, which genetic tests should be ordered in obese patients or for those with parathyroid carcinoma, and the rationale behind testing for multiple endocrine neoplasias. - Offers a clear presentations of pharmacogenetics and the actual assays used in detecting endocrine diseases - Teaches the essentials of the genetic basis of disease in each major endocrine organ system - Offers expert advice from genetic counselors on how to use genetic information in counseling patients - Includes new chapters on the genetics of lipid disorders and glycogen storage diseases, genetics of hypoglycemia, and whole genome/exome sequencing
"Preimplantation Genetic Diagnosis" (PGD) offers an answer in the control of inherited conditions by predicting reproductive outcome. PGD is no longer an experimental procedure, having become an integral part of genetic practices and assisted reproduction technology. Therefore this practical book will be vital for clinicians to access a comprehensive description of available experience, indications, methods, and clinical outcomes. The book describes the experience of PGD, demonstrating the considerable progress made in this revolutionary procedure and describing its utility within different patient groups, the accuracy of the laboratory methods, and prediction of the reproductive outcome. This will facilitate the use of PGD by practicing physicians, who may be able to offer patients this novel option for avoiding the birth of an affected child and having healthy children of their own.
An authoritative guide to the histological and genetic typing of human tumours of the digestive system. Prepared by 113 experts from 17 countries, the book covers neoplasms of the entire gastrointestinal tract, liver, biliary system, and exocrine pancreas. In view of their increasingly recognized importance, inherited tumour syndromes involving the digestive system are also described. Over 2200 references are included in this authoritative international tool. The book is organized according to ten groups of tumours. Each tumour is introduced with a concise definition and discussion of nomencl.