This publication extends the now classic system of human cytogenetic nomenclature prepared by an expert committee and published in collaboration with Cytogenetic and Genome Research' since 1963. Revised and finalized by the ISCN Committee and its advisors at a meeting in Seattle, Wash., in April 2012, the ISCN 2013 updates, revises and incorporates all previous human cytogenetic nomenclature recommendations into one systematically organized publication that supersedes all previous ISCN recommendations. There are several new features in ISCN 2013: an update of the microarray nomenclature, many more illustrative examples of uses of nomenclature in all sections some definitions including chromothripsis and duplication a new chapter for nomenclature that can be used for any region-specific assay. The ISCN 2013 is an indispensable reference volume for human cytogeneticists, technicians and students for the interpretation and communication of human cytogenetic nomenclature.

Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.

Handbook of Epigenetics: The New Molecular and Medical Genetics, Second Edition, provides a comprehensive analysis of epigenetics, from basic biology, to clinical application. Epigenetics is considered by many to be the new genetics in that many biological phenomena are controlled, not through gene mutations, but rather through reversible and heritable epigenetic processes. These epigenetic processes range from DNA methylation to prions. The biological processes impacted by epigenetics are vast and encompass effects in lower organisms and humans that include tissue and organ regeneration, X-chromosome inactivation, stem cell differentiation, genomic imprinting, and aging. The first edition of this important work received excellent reviews; the second edition continues its comprehensive coverage adding more current research and new topics based on customer and reader reviews, including new discoveries, approved therapeutics, and clinical trials. From molecular mechanisms and epigenetic technology, to discoveries in human disease and clinical epigenetics, the nature and applications of the science is presented for those with interests ranging from the fundamental basis of epigenetics, to therapeutic interventions for epigenetic-based disorders. - Timely and comprehensive collection of fully up-to-date reviews on epigenetics that are organized into one volume and written by leading figures in the field - Covers the latest advances in many different areas of epigenetics, ranging from basic aspects, to technologies, to clinical medicine - Written at a verbal and technical level that can be understood by scientists and college students - Updated to include new epigenetic discoveries, newly approved therapeutics, and clinical trials

Handbook of Pharmacogenomics and Stratified Medicine is a comprehensive resource to understand this rapidly advancing field aiming to deliver the right drug at the right dose to the right patient at the right time. It is designed to provide a detailed, but accessible review of the entire field from basic principles to applications in various diseases. The chapters are written by international experts to allow readers from a wide variety of backgrounds, clinical and non-clinical (basic geneticists, pharmacologists, clinicians, trialists, industry personnel, ethicists) to understand the principles underpinning the progress in this area, the successes, failures and the challenges ahead. To be accessible to the widest range of readers, the clinical application section introduces the disease process, existing therapies, followed by pharmacogenomics and stratified medicine details.Medicine is the cornerstone of modern therapeutics prescribed on the basis that its benefit should outweigh its risk. It is well known that people respond differently to medications and in many cases the risk-benefit ratio for a particular drug may be a gray area. The last decade has seen a revolution in genomics both in terms of technological innovation and discovering genetic markers associated with disease. In parallel there has been steady progress in trying to make medicines safer and tailored to the individual. This has occurred across the whole spectrum of medicine, some more than others. In addition there is burgeoning interest from the pharmaceutical industry to leverage pharmacogenomics for more effective and efficient clinical drug development. - Provides clinical and non-clinical researchers with practical information normally beyond their usual areas of research or expertise - Includes an basic principles section explaining concepts of basic genetics, genetic epidemiology, bioinformatics, pharmacokinetics and pharmacodynamics - Covers newer technologies– next generation sequencing, proteomics, metabolomics - Provides information on animal models, lymphoblastoid cell lines, stem cells - Provides detailed chapters on a wide range of disease conditions, implementation and regulatory issues - Includes chapters on the global implications of pharmacogenomics

Part of the in-depth and practical Pattern Recognition series, Practical Surgical Neuropathology, 2nd Edition, by Drs. Arie Perry and Daniel J. Brat, helps you arrive at an accurate CNS diagnosis by using a pattern-based approach. Leading diagnosticians in neuropathology guide you from a histological (and/or clinical, radiologic, and molecular) pattern, through the appropriate work-up, around the pitfalls, and to the best diagnosis. Almost 2,000 high-quality illustrations capture key neuropathological patterns for a full range of common and rare conditions, and a "visual index" at the beginning of the book directs you to the exact location of in-depth diagnostic guidance. - Instructive algorithms provide detailed guidance based on 8 major (scanning magnification) patterns and 20 minor (high magnification) patterns – helping you narrow the range of diagnostic possibilities. - A user-friendly design color-codes patterns to specific entities, and key points are summarized in tables, charts, and graphs so you can quickly and easily find what you are looking for. Sweeping content updates. Patterns call-outs throughout. The patterns described initially in the text will be better linked directly within the chapter, reinforcing the patterns for further understanding.

This book brings together genetics, reproductive biology and medicine for an integrative view of the emerging specialism of reproductive genetics.