Uniparental Disomy Upd In Clinical Genetics

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Uniparental Disomy (UPD) in Clinical Genetics

Thomas Liehr
Uniparental Disomy UPD in Clinical Genetics Book PDF

Author : Thomas Liehr
Publisher : Springer
Page : 201 pages
File Size : 48,5 Mb
Release : 2014-06-26
Category : Medical
ISBN : 9783642552885

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Uniparental Disomy (UPD) in Clinical Genetics by Thomas Liehr Pdf

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.

Genomic Imprinting and Uniparental Disomy in Medicine

Eric Engel,Stylianos E. Antonarakis
Genomic Imprinting and Uniparental Disomy in Medicine Book PDF

Author : Eric Engel,Stylianos E. Antonarakis
Publisher : John Wiley & Sons
Page : 303 pages
File Size : 49,7 Mb
Release : 2004-03-24
Category : Medical
ISBN : 9780471459132

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Genomic Imprinting and Uniparental Disomy in Medicine by Eric Engel,Stylianos E. Antonarakis Pdf

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

R.J. MKinlay Gardner,Grant R Sutherland,Lisa G. Shaffer
Chromosome Abnormalities and Genetic Counseling Book PDF

Author : R.J. MKinlay Gardner,Grant R Sutherland,Lisa G. Shaffer
Publisher : OUP USA
Page : 650 pages
File Size : 51,9 Mb
Release : 2012
Category : Medical
ISBN : 9780195375336

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Chromosome Abnormalities and Genetic Counseling by R.J. MKinlay Gardner,Grant R Sutherland,Lisa G. Shaffer Pdf

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.

Epigenetics in Human Disease

Trygve O. Tollefsbol
Epigenetics in Human Disease Book PDF

Author : Trygve O. Tollefsbol
Publisher : Academic Press
Page : 618 pages
File Size : 45,9 Mb
Release : 2012-07-26
Category : Medical
ISBN : 9780123884152

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Epigenetics in Human Disease by Trygve O. Tollefsbol Pdf

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

Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling

R.J. McKinlay Gardner,David Amor
Gardner and Sutherland s Chromosome Abnormalities and Genetic Counseling Book PDF

Author : R.J. McKinlay Gardner,David Amor
Publisher : Oxford University Press
Page : 634 pages
File Size : 51,8 Mb
Release : 2018-02-06
Category : Medical
ISBN : 9780199329014

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Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling by R.J. McKinlay Gardner,David Amor Pdf

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.

Genetics for Surgeons

Patrick John Morrison,Roy Archibald Joseph Spence
Genetics for Surgeons Book PDF

Author : Patrick John Morrison,Roy Archibald Joseph Spence
Publisher : Remedica
Page : 237 pages
File Size : 52,9 Mb
Release : 2005
Category : Medical
ISBN : 9781901346695

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Genetics for Surgeons by Patrick John Morrison,Roy Archibald Joseph Spence Pdf

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).

Genetics and Genomics in Medicine

Tom Strachan,Judith Goodship,Patrick Chinnery
Genetics and Genomics in Medicine Book PDF

Author : Tom Strachan,Judith Goodship,Patrick Chinnery
Publisher : Taylor & Francis
Page : 545 pages
File Size : 40,6 Mb
Release : 2014-06-02
Category : Medical
ISBN : 9781317594307

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Genetics and Genomics in Medicine by Tom Strachan,Judith Goodship,Patrick Chinnery Pdf

Genetics and Genomics in Medicine is a new textbook written for undergraduate students, graduate students, and medical researchers that explains the science behind the uses of genetics and genomics in medicine today. Rather than focusing narrowly on rare inherited and chromosomal disorders, it is a comprehensive and integrated account of how geneti

Cytogenetic Abnormalities

Susan Mahler Zneimer
Cytogenetic Abnormalities Book PDF

Author : Susan Mahler Zneimer
Publisher : John Wiley & Sons
Page : 672 pages
File Size : 41,6 Mb
Release : 2014-08-21
Category : Science
ISBN : 9781118412565

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Cytogenetic Abnormalities by Susan Mahler Zneimer Pdf

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

Clinical Genetics

Golder Wilson
Clinical Genetics Book PDF

Author : Golder Wilson
Publisher : Wiley-Liss
Page : 500 pages
File Size : 46,7 Mb
Release : 2000
Category : Medical
ISBN : UOM:39015050314163

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Clinical Genetics by Golder Wilson Pdf

With the advent of genetic engineering and mapping of the human genome, public awareness concerning the contributions that genetic disorders make to illness or death has increased significantly. The fields of human and medical genetics have continued to expand and offer new ways of understanding, preventing, and managing patients with genetic disorders. At the core of the genetic approach are the ideas of anticipation and prevention, which are essential for modern medical practice. Clinical Genetics: A Short Course explains the importance of being able to anticipate disease based on individual characteristics or a family history, and then providing the necessary measures to forestall further complications. Each informative chapter commences with a case presentation and an explanation of medical terms. As the book progresses and new concepts are introduced, each case is updated. Clinical Genetics clarifies that, although individual genetic disease may be rare, it is an inescapable part of medicine. Text contains: * Both basic principles and differential diagnosis and management * Case-oriented problems, including answers and solutions * Over 300 illustrations to clarify clinical cases * Actual patient material * Glossary of genetic and medical terminology Clinical Genetics: A Short Course emphasizes clinical, rather than traditional human genetics, and is a vital resource for medical, clinical, and human geneticists, as well as other health care professionals.

Genomics of Rare Diseases

Claudia Gonzaga-Jauregui,James R. Lupski
Genomics of Rare Diseases Book PDF

Author : Claudia Gonzaga-Jauregui,James R. Lupski
Publisher : Academic Press
Page : 316 pages
File Size : 55,7 Mb
Release : 2021-06-12
Category : Medical
ISBN : 9780128204368

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Genomics of Rare Diseases by Claudia Gonzaga-Jauregui,James R. Lupski Pdf

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

Perinatal Genetics

Mary E Norton,Jeffrey A. Kuller,Lorraine Dugoff
Perinatal Genetics Book PDF

Author : Mary E Norton,Jeffrey A. Kuller,Lorraine Dugoff
Publisher : Elsevier Health Sciences
Page : 350 pages
File Size : 43,5 Mb
Release : 2019-01-23
Category : Medical
ISBN : 9780323530965

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Perinatal Genetics by Mary E Norton,Jeffrey A. Kuller,Lorraine Dugoff Pdf

Get a quick, expert overview of the fast-changing field of perinatal genetics with this concise, practical resource. Drs. Mary Norton, Jeffrey A. Kuller, Lorraine Dugoff, and George Saade fully cover the clinically relevant topics that are key to providers who care for pregnant women and couples contemplating pregnancy. It’s an ideal resource for Ob/Gyn physicians, maternal-fetal medicine specialists, and clinical geneticists, as well as midwives, nurse practitioners, and other obstetric providers. Provides a comprehensive review of basic principles of medical genetics and genetic counseling, molecular genetics, cytogenetics, prenatal screening options, chromosomal microarray analysis, whole exome sequencing, prenatal ultrasound, diagnostic testing, and more. Contains a chapter on fetal treatment of genetic disorders. Consolidates today’s available information and experience in this important area into one convenient resource.

Management of Genetic Syndromes

Suzanne B. Cassidy,Judith E. Allanson
Management of Genetic Syndromes Book PDF

Author : Suzanne B. Cassidy,Judith E. Allanson
Publisher : John Wiley & Sons
Page : 1678 pages
File Size : 42,9 Mb
Release : 2011-09-20
Category : Medical
ISBN : 9781118210673

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Management of Genetic Syndromes by Suzanne B. Cassidy,Judith E. Allanson Pdf

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

Small Supernumerary Marker Chromosomes (sSMC)

Thomas Liehr
Small Supernumerary Marker Chromosomes sSMC Book PDF

Author : Thomas Liehr
Publisher : Springer Science & Business Media
Page : 233 pages
File Size : 49,8 Mb
Release : 2011-11-03
Category : Medical
ISBN : 9783642207662

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Small Supernumerary Marker Chromosomes (sSMC) by Thomas Liehr Pdf

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.

Cytogenomics

Thomas Liehr
Cytogenomics Book PDF

Author : Thomas Liehr
Publisher : Academic Press
Page : 430 pages
File Size : 53,6 Mb
Release : 2021-05-25
Category : Science
ISBN : 9780128235805

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Cytogenomics by Thomas Liehr Pdf

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

Catalogue of Unbalanced Chromosome Aberrations in Man

Albert Schinzel
Catalogue of Unbalanced Chromosome Aberrations in Man Book PDF

Author : Albert Schinzel
Publisher : Walter de Gruyter GmbH & Co KG
Page : 936 pages
File Size : 46,7 Mb
Release : 2020-10-26
Category : Medical
ISBN : 9783112329047

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Catalogue of Unbalanced Chromosome Aberrations in Man by Albert Schinzel Pdf

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