Genomic Imprinting And Uniparental Disomy In Medicine

Download Genomic Imprinting And Uniparental Disomy In Medicine full books in PDF, epub, and Kindle. Read online Genomic Imprinting And Uniparental Disomy In Medicine ebook anywhere anytime directly on your device. Fast Download speed and no annoying ads. We cannot guarantee that every ebooks is available!

Genomic Imprinting and Uniparental Disomy in Medicine

Author : Eric Engel
Publisher : John Wiley & Sons
ISBN 13 : 0471459135
Total Pages : 303 pages
Book Rating : 4.4/5 (714 download)

DOWNLOAD NOW!

Book Synopsis Genomic Imprinting and Uniparental Disomy in Medicine by : Eric Engel

Download or read book Genomic Imprinting and Uniparental Disomy in Medicine written by Eric Engel and published by John Wiley & Sons. This book was released on 2004-03-24 with total page 303 pages. Available in PDF, EPUB and Kindle. Book excerpt: Eric Engel and Stylianos Antonarakis have written the most authoritative and vital reference on molecular and clinical aspects of uniparental disomy (UPD) and genomic imprinting to date. Genomic Imprinting and Uniparental Disomy in Medicine features comprehensive overviews of a multitude of genetic disorders linked to UPD, with a strong emphasis on clinical consequences. This book will provide readers with the tools necessary to identify and treat diseases associated with nontraditional chromosomal inheritance. Genomic Imprinting and Uniparental Disomy in Medicine features handy tables summarizing clinical phenotypes and chromosomal involvement in UPD, as well as clear illustrations on imprinting mechanisms and diagnostic testing. This authoritative, completely up-to-date practical reference will be useful for any clinical geneticist, genetic counselor, physician, or researcher encountering patients with such disorders or studying complex disease mechanisms.

Chromosome Abnormalities and Genetic Counseling

Author : R.J. MKinlay Gardner
Publisher : OUP USA
ISBN 13 : 0195375335
Total Pages : 650 pages
Book Rating : 4.1/5 (953 download)

DOWNLOAD NOW!

Book Synopsis Chromosome Abnormalities and Genetic Counseling by : R.J. MKinlay Gardner

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.

Uniparental Disomy (UPD) in Clinical Genetics

Author : Thomas Liehr
Publisher : Springer
ISBN 13 : 3642552889
Total Pages : 201 pages
Book Rating : 4.6/5 (425 download)

DOWNLOAD NOW!

Book Synopsis Uniparental Disomy (UPD) in Clinical Genetics by : Thomas Liehr

Download or read book Uniparental Disomy (UPD) in Clinical Genetics written by Thomas Liehr and published by Springer. This book was released on 2014-06-26 with total page 201 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.

Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling

Author : R. J. McKinlay Gardner
Publisher : Oxford University Press
ISBN 13 : 0199329001
Total Pages : 729 pages
Book Rating : 4.1/5 (993 download)

DOWNLOAD NOW!

Book Synopsis Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling by : R. J. McKinlay Gardner

Download or read book Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling written by R. J. McKinlay Gardner and published by Oxford University Press. This book was released on 2018 with total page 729 pages. Available in PDF, EPUB and Kindle. Book excerpt: Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamental role of the genetics clinic remains mostly unchanged. Genetic counselors and medical geneticists explain the "unexplainable," helping families understand why abnormalities occur and whether they're likely to occur again. Chromosome Abnormalities and Genetic Counseling is the genetics professional's definitive guide to navigating both chromosome disorders and the clinical questions of the families they impact. Combining a primer on these disorders with the most current approach to their best clinical approaches, this classic text is more than just a reference; it is a guide to how to think about these disorders, even as our technical understanding of them continues to evolve. Completely updated and still infused with the warmth and voice that have made it essential reading for professionals across medical genetics, this edition of Chromosome Abnormalities and Genetic Counseling represents a leap forward in clinical understanding and communication. It is, as ever, essential reading for the field.

Epigenetics in Human Disease

Author : Trygve Tollefsbol
Publisher : Academic Press
ISBN 13 : 0123884160
Total Pages : 617 pages
Book Rating : 4.1/5 (238 download)

DOWNLOAD NOW!

Book Synopsis Epigenetics in Human Disease by : Trygve Tollefsbol

Download or read book Epigenetics in Human Disease written by Trygve Tollefsbol and published by Academic Press. This book was released on 2012-07-26 with total page 617 pages. Available in PDF, EPUB and Kindle. Book excerpt: Epigenetics is one of the fastest growing fields of sciences, illuminating studies of human diseases by looking beyond genetic make-up and acknowledging that outside factors play a role in gene expression. The goal of this volume is to highlight those diseases or conditions for which we have advanced knowledge of epigenetic factors such as cancer, autoimmune disorders and aging as well as those that are yielding exciting breakthroughs in epigenetics such as diabetes, neurobiological disorders and cardiovascular disease. Where applicable, attempts are made to not only detail the role of epigenetics in the etiology, progression, diagnosis and prognosis of these diseases, but also novel epigenetic approaches to the treatment of these diseases. Chapters are also presented on human imprinting disorders, respiratory diseases, infectious diseases and gynecological and reproductive diseases. Since epigenetics plays a major role in the aging process, advances in the epigenetics of aging are highly relevant to many age-related human diseases. Therefore, this volume closes with chapters on aging epigenetics and breakthroughs that have been made to delay the aging process through epigenetic approaches. With its translational focus, this book will serve as valuable reference for both basic scientists and clinicians alike. Comprehensive coverage of fundamental and emergent science and clinical usage Side-by-side coverage of the basis of epigenetic diseases and their treatments Evaluation of recent epigenetic clinical breakthroughs

Genomic Imprinting and Kinship

Author : David Haig
Publisher : Rutgers University Press
ISBN 13 : 9780813530277
Total Pages : 244 pages
Book Rating : 4.5/5 (32 download)

DOWNLOAD NOW!

Book Synopsis Genomic Imprinting and Kinship by : David Haig

Download or read book Genomic Imprinting and Kinship written by David Haig and published by Rutgers University Press. This book was released on 2002 with total page 244 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomic imprinting allows scientists to trace genes to the parent of origin. This volume presents a collection of 13 papers by David Haig (organisimic and evolutionary biology, Harvard U.) on genomic imprinting. He argues that our paternally and maternally active genes do not work in cooperation with each other and in fact are in competition. Each paper is followed by commentary by the author, providing background information and discussing developments since its publication. Annotation copyrighted by Book News Inc., Portland, OR.

Genetics of Obesity Syndromes

Author : Philip R. Beales
Publisher : Oxford University Press
ISBN 13 : 0199719861
Total Pages : 300 pages
Book Rating : 4.1/5 (997 download)

DOWNLOAD NOW!

Book Synopsis Genetics of Obesity Syndromes by : Philip R. Beales

Download or read book Genetics of Obesity Syndromes written by Philip R. Beales and published by Oxford University Press. This book was released on 2008-08-29 with total page 300 pages. Available in PDF, EPUB and Kindle. Book excerpt: Obesity is one of the most important contributing factors to disease throughout the world and is an area of great current interest among researchers and clinicians. The genetics of common obesity is complex, and an important thread through this labyrinth is the study of genetic syndromes in which obesity is a major component. By examining the genetic mechanisms of obesity in these syndromes, the authors will shed new light on the genetics of common obesity. This is the first book on this important and exciting new area and addreses 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. The book is divided into three sections: the first covers approaches for assessing and investigating the obese individual; the second describes nondysmorphic, monogenic forms of obesity; and the third documents key, multisystem obesity syndromes with various genetic etiologies. It is as much a reference book as it is a manual and will appeal to clinical geneticists, obesity researchers, endocrinologists, nutritionists, and medical biologists.

Genetics for Surgeons

Author : Patrick John Morrison
Publisher : Remedica
ISBN 13 : 1901346692
Total Pages : 237 pages
Book Rating : 4.9/5 (13 download)

DOWNLOAD NOW!

Book Synopsis Genetics for Surgeons by : Patrick John Morrison

Download or read book Genetics for Surgeons written by Patrick John Morrison and published by Remedica. This book was released on 2005 with total page 237 pages. Available in PDF, EPUB and Kindle. Book excerpt: Morrison (human genetics, University of Ulster, UK) and Spence (biomedical science, University of Ulster, UK) offer an accessible reference on the genetic disorders that surgeons can expect to meet in general surgical practice. Written in non-technical language, with a glossary, list of abbreviations, and color and b&w photos and medical images, the book supplies an introduction to the nomenclature and technology of molecular biology, and will be a useful starting point for those who wish to extend their knowledge. Annotation :2005 Book News, Inc., Portland, OR (booknews.com).

Management of Prader-Willi Syndrome

Author : Merlin Butler
Publisher : Springer Science & Business Media
ISBN 13 : 0387335366
Total Pages : 569 pages
Book Rating : 4.3/5 (873 download)

DOWNLOAD NOW!

Book Synopsis Management of Prader-Willi Syndrome by : Merlin Butler

Download or read book Management of Prader-Willi Syndrome written by Merlin Butler and published by Springer Science & Business Media. This book was released on 2006-10-11 with total page 569 pages. Available in PDF, EPUB and Kindle. Book excerpt: Management of Prader-Willi Syndrome brings together the contributions of professionals with considerable expertise in diagnosis and management of PWS. Clinical, social, family, and community issues are explored and management strategies identified. The text presents historical, medical, and genetic information to orient the reader. The major portion deals with pragmatic guidelines, rather than research and diagnosis, and is directed to health and educational specialists in academic, clinical, and community settings. This manual is endorsed by The Prader-Willi Syndrome Association, which is recognized world-wide.

Genomics of Rare Diseases

Author : Claudia Gonzaga-Jauregui
Publisher : Academic Press
ISBN 13 : 0128204362
Total Pages : 318 pages
Book Rating : 4.1/5 (282 download)

DOWNLOAD NOW!

Book Synopsis Genomics of Rare Diseases by : Claudia Gonzaga-Jauregui

Download or read book Genomics of Rare Diseases written by Claudia Gonzaga-Jauregui and published by Academic Press. This book was released on 2021-06-12 with total page 318 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. - Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes - Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions - Explores opportunities for novel therapeutics - Features chapter contributions from leading researchers and clinicians

Small Supernumerary Marker Chromosomes (sSMC)

Author : Thomas Liehr
Publisher : Springer Science & Business Media
ISBN 13 : 3642207669
Total Pages : 233 pages
Book Rating : 4.6/5 (422 download)

DOWNLOAD NOW!

Book Synopsis Small Supernumerary Marker Chromosomes (sSMC) by : Thomas Liehr

Download or read book Small Supernumerary Marker Chromosomes (sSMC) written by Thomas Liehr and published by Springer Science & Business Media. This book was released on 2011-11-03 with total page 233 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human beings normally have a total of 46 chromosomes, with each chromosome present twice, apart from the X and Y chromosomes in males. Some three million people worldwide, however, have 47 chromosomes: they have a small supernumerary marker chromosome (sSMC) in addition to the 46 normal ones. This sSMC can originate from any one of the 24 human chromosomes and can have different shapes. Approximately one third of sSMC carriers show clinical symptoms, while the remaining two thirds manifest no phenotypic effects. This guide represents the first book ever published on this topic. It presents the latest research results on sSMC and current knowledge about the genotype-phenotype correlation. The focus is on genetic diagnostics as well as on prenatal and fertility-related genetic counseling. A unique feature is that research meets practice: numerous patient reports complement the clinical aspects and depict the experiences of families living with a family member with an sSMC.

Management of Genetic Syndromes

Author : Suzanne B. Cassidy
Publisher : John Wiley & Sons
ISBN 13 : 1118210670
Total Pages : 1678 pages
Book Rating : 4.1/5 (182 download)

DOWNLOAD NOW!

Book Synopsis Management of Genetic Syndromes by : Suzanne B. Cassidy

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

Scientific and Medical Aspects of Human Reproductive Cloning

Author : National Research Council
Publisher : National Academies Press
ISBN 13 : 0309076374
Total Pages : 295 pages
Book Rating : 4.3/5 (9 download)

DOWNLOAD NOW!

Book Synopsis Scientific and Medical Aspects of Human Reproductive Cloning by : National Research Council

Download or read book Scientific and Medical Aspects of Human Reproductive Cloning written by National Research Council and published by National Academies Press. This book was released on 2002-06-17 with total page 295 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human reproductive cloning is an assisted reproductive technology that would be carried out with the goal of creating a newborn genetically identical to another human being. It is currently the subject of much debate around the world, involving a variety of ethical, religious, societal, scientific, and medical issues. Scientific and Medical Aspects of Human Reproductive Cloning considers the scientific and medical sides of this issue, plus ethical issues that pertain to human-subjects research. Based on experience with reproductive cloning in animals, the report concludes that human reproductive cloning would be dangerous for the woman, fetus, and newborn, and is likely to fail. The study panel did not address the issue of whether human reproductive cloning, even if it were found to be medically safe, would beâ€"or would not beâ€"acceptable to individuals or society.

Management of Prader-Willi Syndrome

Author : Louise R. Greenswag
Publisher : Springer Science & Business Media
ISBN 13 : 1468403168
Total Pages : 293 pages
Book Rating : 4.4/5 (684 download)

DOWNLOAD NOW!

Book Synopsis Management of Prader-Willi Syndrome by : Louise R. Greenswag

Download or read book Management of Prader-Willi Syndrome written by Louise R. Greenswag and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 293 pages. Available in PDF, EPUB and Kindle. Book excerpt: Management of Prader-Willi Syndrome is the first book to provide a comprehensive source of knowledge about Prader-Willi Syndrome and to offer common-sense guidelines for management. It consists of contributions from professionals in many health and allied disciplines who have worked with this special population. The book focuses on clinical, social, familial, and community issues related to care. It is directed to health, education, and other specialists in academic, clinical, and community settings. Management of Prader-Willi Syndrome describes strategies for management which are appropriate to an interdisciplinary approach.

Cytogenetic Abnormalities

Author : Susan Mahler Zneimer
Publisher : John Wiley & Sons
ISBN 13 : 1118412567
Total Pages : 672 pages
Book Rating : 4.1/5 (184 download)

DOWNLOAD NOW!

Book Synopsis Cytogenetic Abnormalities by : Susan Mahler Zneimer

Download or read book Cytogenetic Abnormalities written by Susan Mahler Zneimer and published by John Wiley & Sons. This book was released on 2014-08-21 with total page 672 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cytogenetics is the study of the structure and function of chromosomes in relation to phenotypic expression.Chromosomal abnormalities underlie the development of a wide variety of diseases and disorders ranging from Down syndrome to cancer, and are of widespread interest in both basic and clinical research. Cytogenetic Abnormalities: Chromosomal, FISH, and Microarray-Based Clinical Reporting is a practical guide that describes cytogenetic abnormalities, their clinical implications and how best to report and communicate laboratory findings in research and clinical settings. The text first examines chromosomal, FISH, and microarray-based analyses in constitutional disorders. Using these same methodologies, the book's focus shifts to acquired abnormalities in cancers. Both sections provide illustrative examples of cytogenetic abnormalities and how to communicate these findings in standardized laboratory reports. Providing both a wealth of cytogenetic information, as well as practical guidance on how best to communicate findings to fellow research and medical professionals, Cytogenetic Abnormalities will be an essential resource for cytogeneticists, laboratory personnel, clinicians, research scientists, and students in the field. A guide to interpreting and reporting cytogenetic laboratory results involved in constitutional disorders and cancers Guides the reader on implementing the International System for Human Cytogenetic Nomenclature in written reports Provides information to allow scientists and medical professionals to fully understand and communicate cytogenetic abnormalities Describes a wide array of cytogenetic abnormalities observed in the laboratory Divided into user-friendly sections devoted to methodologies and implications of specific diseases

Assessing Genetic Risks

Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309047986
Total Pages : 353 pages
Book Rating : 4.3/5 (9 download)

DOWNLOAD NOW!

Book Synopsis Assessing Genetic Risks by : Institute of Medicine

Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.

Cytogenomics

Author : Thomas Liehr
Publisher : Academic Press
ISBN 13 : 0128235802
Total Pages : 430 pages
Book Rating : 4.1/5 (282 download)

DOWNLOAD NOW!

Book Synopsis Cytogenomics by : Thomas Liehr

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