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Now in its second edition, this atlas serves as an easy-to-use diagnostic guide for the analysis of the human karyotype. Split in four parts, it starts with a comprehensive introduction covering the molecular cytogenetic basics, the role of ethic committees and international quality control in the field of diagnostics. The main parts II and III, demonstrate the spectrum of the different types of chromosome abnormalities by a combination of karyogram and ideogram, it compares the expressiveness of different banding techniques, and it gives the karyotype formula and describes morphological peculiarities of each presented case. The final part, provides a detailed description of variants of non-coding DNA and focuses on potential problems in detecting aberrations and mentions necessary additional investigations and peculiarities, which have to be taken into account when counseling carriers of a chromosome aberration or their relatives. Given its comprehensive scope and practical approach, this atlas is an indispensable resource for researchers, clinicians and practitioners working in the field of cytogenetics and clinical genetics.

Human genetics --- medische genetica

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Human genetics --- medische genetica --- genetica

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Human genetics --- medische genetica --- genetica

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The aim of this text is to provide a summary of the present day understanding of diagnosis, management, and best medical and surgical treatment of Marfan syndrome. The authors cover lifelong problems, from birth to old age, in each affected system. Patients may initially be referred to any one of a number of specialists and although each doctor is likely to be familiar with a particular aspect of the syndrome, they are less likely to be familiar with its other features. The fact that the syndrome presents in many different ways may also hinder its recognition. By making this information available, Diagnosis and Management of Marfan Syndrome aims to raise awareness of Marfan syndrome, and to promote best management aimed at prolonging lifespan and improving quality of life. This text has been written by a network of expert physicians who wish to share their hard-won knowledge, and is a useful tool for any clinician likely to encounter a patient with this condition.

Pathology --- medische genetica --- Marfan-syndroom

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The world population is rapidly aging—it is estimated that by 1950, around 17% of the population will be elderly. In this context, aging involves several physiological, psychological and highly complex social processes that vary from one person to another. For a long time, medical care for older adults has focused on treating chronic, age-related diseases and their associated consequences. Recently, biomedical research brings a novel point of view to develop more effective interventions by targeting the aging process itself rather than separate conditions. There is a growing number of reports indicating that aging is driven by several interconnected mechanisms and biological components referred to as the molecular pillars of aging. Interfering with these mechanisms could help to treat, prevent, and understand the development of age-related diseases and associated syndromes. This book provides a clinical perspective and general update on biomedical and genetic research in aging, moving from an update in the molecular pillars of aging to a perspective of the most recent pharmacological, clinical, and diagnostic applications using genomic approaches and techniques. While this book focuses on the specifics of genetics and genomics, it also adopts a clinical perspective of geroscience, which seeks to understand the genetic, molecular and cellular mechanisms that make aging an important risk factor and, sometimes, a determining factor in the diseases and common chronic conditions of older people. Additionally, Clinical Genetics and Genomics of Aging is a significant contribution to support aging research, as it shows that collaboration across disciplines is relevant to progress in the field. As more and more people benefit from increased longevity, clinician and researchers will be empowered by this knowledge to contribute to the progress of aging research.

Human genetics --- medische genetica --- genetica