Download or read book Analyses of epi genetic Mosaicism in Individuals Suspicious for Genetic Aberrations written by Magdalena Gogiel and published by . This book was released on 2012 with total page 124 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics
Download or read book Mosaicism in Human Skin written by Rudolf Happle and published by Springer Nature. This book was released on 2022-11-24 with total page 252 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition offers a fully revised and updated work on a rapidly growing field of knowledge, and was prepared by two experts whose goal was to explain the molecular basis of mosaic skin disorders in a language that is accessible for practicing physicians and medical students alike. It presents a timely and comprehensive overview of the strikingly manifold patterns and peculiarities of mosaic skin disorders in a straightforward, reader-friendly way that will help physicians to further improve genetic counseling and treatment outcomes. The first two parts of the book are devoted to the mechanisms and patterns of cutaneous mosaicism, and include an explanation of genomic and epigenetic mosaicism and a description of the archetypical segmental patterns including the lines of Blaschko and the flag-like, phylloid and lateralization pattern, the non-segmental pattern of large congenital melanocytic nevi, and the sash-like arrangement as noted in a particular type of cutis tricolor. The concept of lethal mutations surviving as mosaics has now been confirmed by molecular analysis in many sporadically occurring phenotypes. The difference between monoallelic and biallelic traits has deepened our understanding of hereditary mosaics, especially of multiple benign skin tumors. Moreover, recognition of the fundamental difference between the simple segmental and the superimposed types of mosaicism is important for the purpose of genetic counseling. In the third part, the various mosaic skin disorders are examined in depth, including nevi, didymotic disorders, other binary genodermatoses, mosaic manifestations of autosomal skin disorders, and nevoid skin disorders such as phenotypes reflecting functional X-chromosome mosaicism or a superimposed mosaic manifestation of common skin diseases with a polygenic background. Reader-friendly and clearly structured, Mosaicism in Human Skin will appeal to both experienced dermatologists and residents in training, as well as to medical geneticists and pediatricians.
Download or read book Cytogenomics written by Thomas Liehr and published by Academic Press. This book was released on 2021-05-25 with total page 430 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods and technologies, enabling researchers to jump-start their own projects and more effectively gather and interpret chromosomal data. Methods discussed include banding and molecular cytogenetics, molecular combing, molecular karyotyping, next-generation sequencing, epigenetic study approaches, optical mapping/karyomapping, and CRISPR-cas9 applications for cytogenomics. The book’s second half demonstrates recent applications of cytogenomic techniques, such as characterizing 3D chromosome structure across different tissue types and insights into multilayer organization of chromosomes, role of repetitive elements and noncoding RNAs in human genome, studies in topologically associated domains, interchromosomal interactions, and chromoanagenesis. This book is an important reference source for researchers, students, basic and translational scientists, and clinicians in the areas of human genetics, genomics, reproductive medicine, gynecology, obstetrics, internal medicine, oncology, bioinformatics, medical genetics, and prenatal testing, as well as genetic counselors, clinical laboratory geneticists, bioethicists, and fertility specialists. Offers applied approaches empowering a new generation of cytogenomic research using a balanced combination of classical and advanced technologies Provides a framework for interpreting chromosome structure and how this affects the functioning of the genome in health and disease Features chapter contributions from international leaders in the field
Download or read book Heritable Human Genome Editing written by The Royal Society and published by National Academies Press. This book was released on 2021-01-16 with total page 239 pages. Available in PDF, EPUB and Kindle. Book excerpt: Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.
Download or read book Genetics of Human Infertility written by P.H. Vogt and published by Karger Medical and Scientific Publishers. This book was released on 2017-09-12 with total page 190 pages. Available in PDF, EPUB and Kindle. Book excerpt: Infertility affects more than one in ten couples worldwide and is related to highly heterogeneous pathologies sometimes only discernible in the germ line. Its complex etiology often, but not always, includes genetic factors besides anatomical defects, immunological interference, and environmental aspects. Nearly 30% of infertility cases are probably caused only by genetic defects. Thereby experimental animal knockout models convincingly show that infertility can be caused by single or multiple gene defects. Translating those basic research findings into clinical studies is challenging, leaving genetic causes for the vast majority of infertility patients unexplained. Nevertheless, a large number of candidate genes have been revealed by sophisticated molecular methods. This book provides a comprehensive overview on the subject of infertility written by the leading authorities in this field. It covers topics including basic biological, cytological, and molecular studies, as well as common and uncommon syndromes. It is a must-read for human geneticists, endocrinologists, epidemiologists, zoologists, and counsellors in human genetics, infertility, and assisted reproduction.
Download or read book MRCOG Part One written by Alison Fiander and published by Cambridge University Press. This book was released on 2016-10-13 with total page 557 pages. Available in PDF, EPUB and Kindle. Book excerpt: A fully updated and illustrated handbook providing comprehensive coverage of all curriculum areas covered by the MRCOG Part 1 examination.
Download or read book Molecular Genetic Pathology written by Liang Cheng and published by Springer. This book was released on 2013-03-05 with total page 1136 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecular Genetic Pathology, Second Edition presents up-to-date material containing fundamental information relevant to the clinical practice of molecular genetic pathology. Fully updated in each area and expanded to include identification of new infectious agents (H1N1), new diagnostic biomarkers and biomarkers for targeted cancer therapy. This edition is also expanded to include the many new technologies that have become available in the past few years such as microarray (AmpliChip) and high throughput deep sequencing, which will certainly change the clinical practice of molecular genetic pathology. Part I examines the clinical aspects of molecular biology and technology, genomics. Poharmacogenomics and proteomics, while Part II covers the clinically relevant information of medical genetics, hematology, transfusion medicine, oncology, and forensic pathology. Supplemented with many useful figures and presented in a helpful bullet-point format, Molecular Genetic Pathology, Second Edition provides a unique reference for practicing pathologists, oncologists, internists, and medical genetisists. Furthermore, a book with concise overview of the field and highlights of clinical applications will certainly help those trainees, including pathology residents, genetics residents, molecular pathology fellows, internists, hematology/oncology fellows, and medical technologists in preparing for their board examination/certification.
Download or read book Genome Chaos written by Henry H. Heng and published by Academic Press. This book was released on 2019-05-25 with total page 556 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genome Chaos: Rethinking Genetics, Evolution, and Molecular Medicine transports readers from Mendelian Genetics to 4D-genomics, building a case for genes and genomes as distinct biological entities, and positing that the genome, rather than individual genes, defines system inheritance and represents a clear unit of selection for macro-evolution. In authoring this thought-provoking text, Dr. Heng invigorates fresh discussions in genome theory and helps readers reevaluate their current understanding of human genetics, evolution, and new pathways for advancing molecular and precision medicine. Bridges basic research and clinical application and provides a foundation for re-examining the results of large-scale omics studies and advancing molecular medicine Gathers the most pressing questions in genomic and cytogenomic research Offers alternative explanations to timely puzzles in the field Contains eight evidence-based chapters that discuss 4d-genomics, genes and genomes as distinct biological entities, genome chaos and macro-cellular evolution, evolutionary cytogenetics and cancer, chromosomal coding and fuzzy inheritance, and more
Download or read book The Principles of Clinical Cytogenetics written by Steven Gersen and published by Humana Press. This book was released on 2010-10-12 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive, in-depth explanation of the basic concepts and interpretations involved in chromosome analysis, a critical technique in the diagnosis, prognosis, and monitoring of a wide variety of conditions. Designed for the health care provider who must use and explain the often complex results of these tests, this book details in understandable language the various applications of chromosome analysis in clinical settings and the clinical significance of abnormal results. In addition, the book offers an informative tutorial on basic laboratory procedures (including microscopy, photomicrography, automation, computerized karyotyping, and QA/QC), reports on novel synergistic technologies such as FISH, and discusses issues in genetic counseling. Enlightening and accessible, The Principles of Clinical Cytogenetics constitutes an indispensable reference for today's physicians and managed care practitioners who depend on the cytogenetics laboratory for the diagnosis of their patients' ailments.
Download or read book Clinical Cardiogenetics written by H.F. Baars and published by Springer Science & Business Media. This book was released on 2010-12-25 with total page 453 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical management and signs are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a genetic disease. With detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic. The genetic causes of various cardiovascular diseases are explained in a concise clinical way that reinforces the current management doctrine in a practical manner. The authors will cover the principles of molecular genetics in general but also specific to cardiac diseases. They will discuss the etiology, pathogenesis, pathophysiology, clinical presentation, clinical diagnosis, molecular diagnosis and treatment of each cardiogenetic disease separately. Therapy advice, ICD indications, indications for and manner of further family investigation will all be covered, while each chapter will also contain take-home messages to reinforce the key points. The chapters reviewing the different diseases will each contain a table describing the genes involved in each. Each chapter will also contain specific illustrations, cumulatively giving a complete, practical review of each cardiogenetic disease separately. Special emphasis will be given to advice on how to diagnose and manage cardiogenetic diseases in clinical practice, which genes should be investigated and why, and the pros and cons of genetic testing. Guidelines for investigation in families with sudden cardiac death at young age will also be included. This book will be written for the general cardiologist and the clinical geneticist who is involved in cardiac patients and will provide answers to question such as: Which genes are involved and which mutations? What is the effect of the mutation at cellular level? Which genes should be tested and why? What is the value of a molecular diagnosis? Does it influence therapy? When should the first degree relatives be tested and in which way?
Download or read book Chromosome Abnormalities and Genetic Counseling written by R.J. MKinlay Gardner and published by OUP USA. This book was released on 2012 with total page 650 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Noninvasive Prenatal Testing NIPT written by Lieve Page-Christiaens and published by Academic Press. This book was released on 2018-08-19 with total page 408 pages. Available in PDF, EPUB and Kindle. Book excerpt: Since its introduction in 2012, cell-free (cf) DNA based Non-Invasive Prenatal Testing (NIPT) has been employed to test for fetal chromosome abnormalities, and gene mutations that lead to a variety of genetic conditions, by millions of pregnant women, in more than 90 countries worldwide. With Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis, Dr Lieve Page-Christiaens and Dr Hanns-Georg Klein have compiled the first authoritative volume on cfDNA NIPT methods and their clinical implementation. Provides a thorough, practical examination of the history of NIPT, NIPT laboratory techniques and bioinformatics, NIPT screening and diagnostics for a wide range of disorders and birth defects Presents leading, international experts who discuss the application of NIPT in early screening for common aneuploidies, fetal chromosome anomalies, autosomal trisomies, fetal blood group typing, and maternal constitutional and acquired copy number variants Includes full color imagery that enhances concept illustration, along with detailed descriptions of the benefits (and limitations) of NIPT Offers clinicians, researchers, genetic counselors and reproductive specialists of all kinds the required background information, methodologies and essential patient counseling techniques
Download or read book The Oxford Handbook of Developmental Psychology Vol 1 written by Philip David Zelazo and published by Oxford University Press. This book was released on 2013-03-21 with total page 1049 pages. Available in PDF, EPUB and Kindle. Book excerpt: This handbook provides a comprehensive survey of what is now known about psychological development, from birth to biological maturity, and it highlights how cultural, social, cognitive, neural, and molecular processes work together to yield human behavior and changes in human behavior.
Download or read book Neonatal Hematology written by Pedro A. de Alarcón and published by Cambridge University Press. This book was released on 2021-02-18 with total page 501 pages. Available in PDF, EPUB and Kindle. Book excerpt: An essential guide to the pathogenesis, diagnosis and management of hematologic problems in the neonate, covering erythrocyte disorders, leukocyte disorders, immunologic disorders and hemostatic disorders. Guidance is practical, including blood test interpretation, advice on transfusions and reference ranges for hematological values.
Download or read book Genetics of Colorectal Cancer written by John D. Potter and published by Springer. This book was released on 2008-12-08 with total page 309 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic susceptibility refers to how variations in a person’s genes increase or decrease his or her susceptibility to environmental factors, such as chemicals, radiation and lifestyle (diet and smoking). This volume will explore the latest findings in the area of genetic susceptibility to gastrointestinal cancers, focusing on molecular epidemiology, DNA repair, and gene-environment interactions to identify factors that affect the incidence of GI cancers. Topics will include germline susceptibility, including Mendelian patterns of inheritance and gene-environment interactions that lead to cancer etiology.
Download or read book The Chromosome 22q11 2 Deletion Syndrome written by Donna M. McDonald-McGinn and published by Academic Press. This book was released on 2022-08-19 with total page 526 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the etiology, prognosis, and recurrence risk associated with the chromosome 22q11.2 deletion syndrome. Leading international contributors cover the background, genetics, testing methods, and pathophysiology of 22q11.2DS, placing emphasis on a strong foundation for multidisciplinary treatment strategies. Written by specialists in every applicable subspecialty, such as, cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology, neurology, and psychiatry, among other fields. This book presents an authoritative resource with full color images that enhance concept illustration and aid in real-time decision-making. As 22q11.2 deletion syndrome has become a model for understanding rare and frequent anomalies, numerous medical issues, cognitive and behavioral phenotypes, and later onset conditions, this text will become the go to resource for clinicians, researchers, trainees, and motivated family members, in gaining a full understanding of this complex chromosomal disorder. Provides a complete description of 22q11.2 deletion syndrome for healthcare professionals, researchers, trainees, and families affected by this common condition Presents diagnostic and treatment strategies to help tackle this complex and often undiagnosed and therefore undertreated condition Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest clinical experience and research in the field Features leading international contributors in numerous sub-specialties, representing the multisystem nature of this condition Includes full color figures, flow charts, tables, and patient images to guide real-time decision-making
