Clinical Genetics

The Atlas of X-Linked Intellectual Disability Syndromes is a comprehensive summary of the clinically distinctive disorders caused by genes on the X chromosome. Each syndrome is defined and information is provided on somatic features, growth and development, neurological signs, cognitive performance, imaging and other laboratory findings, and when possible, the nature and localization of the responsible gene. Craniofacial and other somatic findings are extensively illustrated. A differential matrix accompanies each syndrome description to assist the reader in identifying other X-linked syndromes with overlapping features. Individual syndrome entries are supplemented with nineteen appendices that identify syndromes with common features and provide the location or mapping limits and function of the responsible genes. ...Less

Dysmorphology is the study of congenital malformations and is one of the core areas of clinical genetics. Often the first professional seeing these birth defects is a pediatrician, who notices, for example, that the ears may be rather low set. While in itself minor, this physical sign may indicate a malformation that will be accompanied by other serious genetic disorders. Does the sign, or does it not, indicate an underlying syndrome? The aim of this resource is to provide a practical solution to questions like these. ...Less

This new edition of Chromosome Abnormalities and Genetic Counseling is a thoroughly updated ands richly-illustrated resource, combining basic concepts of chromosomal analysis with practical applications of recent advances in molecular cytogentics. It gives counselors the information that will enable them to help concerned parents accommodate and adapt to their particular chromosomal challenges and to determine what may be, for them, the best course of action. ...Less

This extensively illustrated resource describes the most common malformations and draws from many sources the information needed for a full diagnostic evaluation and discussion of treatment options and genetic counseling. The text also covers minor anomalies, birthmarks and includes dozens of charts of anthropologic measurements, material that is needed in the initial physical examination to describe an infant's physical features. ...Less

This highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic sourcebook on genetic diseases of the eye. Each chapter emphasizes the clinical aspects of disease, tying them to the underlying molecular mechanisms and outlining current therapy. While the molecular underpinnings, testing methods and therapy of genetic disorders continues to evolve, the clinical aspects are well established and are emphasized in this book. A large number of color figures are utilized to illustrate the various chapters. ...Less

This lavishly-illustrated resource represents a comprehensive survey of well over 300 distinct inherited dermatologic conditions. Each disease entry follows a consistent format, containing sections devoted to dermatologic features, associated clinical abnormalities, histopathology, biochemical and molecular information, treatment, mode of inheritance and recurrence risk, prenatal diagnosis, and information on differential diagnosis. Any clinician faced with a patient in whom the possibility for a genetic disorder of the skin exists will find this book a practical tool of immense interest. ...Less

This resource addresses 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. ...Less

Presentation of medical information in a concise, evidence-based, and credible format remains a constant challenge. The vast amount of available knowledge necessitates a committed effort by editors and authors to highlight the new developments while reinforcing the core principles of medicine. To assist physicians in this ongoing challenge, the Department of Internal Medicine at Mayo Clinic remains committed to providing continuing professional development to physicians in a timely manner. Mayo Clinic Internal Medicine Board Review, 9th edition, is designed to meet the needs of physicians who are in training and practicing clinicians by updating their knowledge in internal medicine and preparing them for the American Board of Internal Medicine certification and maintenance-of-certification examinations in internal medicine. The book is divided into subspecialty topics, and each chapter or subsection of a chapter is written by authors with wide clinical expertise in the area. Bulleted items address typical clinical scenarios. These scenarios emphasize 2 key points: the diagnosis of diseases by general internists and subspecialists in internal medicine and the predominance of pharmacologic management. Pharmacy review tables list the indications for and adverse effects of drugs and drug-drug interactions, knowledge that is of paramount importance for practicing physicians. ...Less

Multiple Sclerosis Care - A Practical Manual is a concise and easy to use reference source for all aspects of care in the management and understanding of Multiple Sclerosis (MS). Teams of doctors, nurses, physio and occupational therapists, social workers and other care workers will find it an accessible, useful and handy resource. ...Less

The New Oxford Textbook of Psychiatry is one of the leading reference works in this field. Bringing together over 200 chapters from the leading figures in the discipline, it presents a comprehensive account of clinical psychiatry, with reference to its scientific basis and to the patient's perspective throughout. ...Less