Medical Genetics What Is Mosaicism

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Mosaicism in Human Skin

Author : Rudolf Happle
Publisher : Springer Science & Business Media
ISBN 13 : 3642387659
Total Pages : 234 pages
Book Rating : 4.6/5 (423 download)

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Book Synopsis Mosaicism in Human Skin by : Rudolf Happle

Download or read book Mosaicism in Human Skin written by Rudolf Happle and published by Springer Science & Business Media. This book was released on 2013-11-26 with total page 234 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mosaicism is a powerful biologic concept, originally developed from studying plants and animals. All cutaneous neoplasms, both benign and malignant, reflect mosaicism, which is the necessary basis to explain numerous human skin disorders. For example, various mosaic patterns visualize the embryonic development of human skin and X-linked skin disorders explain why women live longer than men, and so on. This book presents, for the first time, a comprehensive overview on the strikingly manifold patterns and peculiarities of mosaic skin disorders. This reader-friendly structured and straightforward publication will help the dermatologist to understand the underlying molecular mechanisms of skin disorders in order to further improve the treatment outcome.

Medical Genetics: What is MOSAICISM?

Author : Dr.H.K.Saboowala.
Publisher : Dr.Hakim Saboowala
ISBN 13 :
Total Pages : 46 pages
Book Rating : 4./5 ( download)

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Book Synopsis Medical Genetics: What is MOSAICISM? by : Dr.H.K.Saboowala.

Download or read book Medical Genetics: What is MOSAICISM? written by Dr.H.K.Saboowala. and published by Dr.Hakim Saboowala. This book was released on 2022-08-07 with total page 46 pages. Available in PDF, EPUB and Kindle. Book excerpt: Medical Genetics: What is MOSAICISM? When the fertilized egg begins to divide, it replicates its genetic material in cellular offspring. This cell replication builds and builds, creating tissues and organs in the body. In theory, each replicated cell should contain the exact same genetic information as the fertilized egg. However, this is not always the case. In rare instances, new genetic changes can occur in these replicated cells. These changes occur on the chromosomes, which are carry all of a person’s genetic information, located in each cell’s nucleus. Until recently, scientists thought the condition was straightforward—either a person had mosaicism or not. As genetic sequencing technology becomes more sophisticated, a picture is emerging in the field of genetics showing that we all have some amount of mosaicism. The more frequently mosaicism is found in the body, the greater likelihood a person can develop a health condition because of it. Thus, it is endeavoured in this E-Booklet to precisely discuss the followings: · How does Mosaicism occur? · Types of Mosaicism · Types of Disorders caused by Mosaicism along with ILLUSTRATIONS. · How is Mosaicism Diagnosed? · Use in Experimental Biology · Prognosis · Can Mosaicism be Prevented? …Dr. H. K. Saboowala. M.B.(Bom) .M.R.S.H.(London)

Genetic Mosaicism

Author : János Szabad
Publisher : Cambridge Scholars Publishing
ISBN 13 : 1527571165
Total Pages : 160 pages
Book Rating : 4.5/5 (275 download)

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Book Synopsis Genetic Mosaicism by : János Szabad

Download or read book Genetic Mosaicism written by János Szabad and published by Cambridge Scholars Publishing. This book was released on 2021-06-17 with total page 160 pages. Available in PDF, EPUB and Kindle. Book excerpt: The presence of green and yellow ornamental plants around us, dark spots on our skin, people with brown and blue mosaic irises, and white-spotted dogs and horses are all well-known phenomena of life, and are recognisable genetic mosaics. Although such genetics mosaics live with us (and, in fact, we are all a genetic mosaics), little is known about the genetic bases of their origin. This book provides a general overview of the mechanisms that lead to the formation of different types of mosaics, listing an ample collection of examples to illustrate the impact of the genetic mosaics on our life. The book will appeal to the reader interested in understanding the relationship between genetic events and mosaicism, especially undergraduate and graduate students and medical doctors, as well as experts engaged in horticulture and animal breeding.

Cytogenomics

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

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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

Catalogue of Unbalanced Chromosome Aberrations in Man

Author : Albert Schinzel
Publisher : Walter de Gruyter GmbH & Co KG
ISBN 13 : 311232904X
Total Pages : 936 pages
Book Rating : 4.1/5 (123 download)

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Book Synopsis Catalogue of Unbalanced Chromosome Aberrations in Man by : Albert Schinzel

Download or read book Catalogue of Unbalanced Chromosome Aberrations in Man written by Albert Schinzel and published by Walter de Gruyter GmbH & Co KG. This book was released on 2020-10-26 with total page 936 pages. Available in PDF, EPUB and Kindle. Book excerpt: No detailed description available for "Catalogue of Unbalanced Chromosome Aberrations in Man".

Human Gene Mutation

Author : David N. Cooper
Publisher : Taylor & Francis
ISBN 13 : 9781859960554
Total Pages : 412 pages
Book Rating : 4.9/5 (65 download)

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Book Synopsis Human Gene Mutation by : David N. Cooper

Download or read book Human Gene Mutation written by David N. Cooper and published by Taylor & Francis. This book was released on 1995 with total page 412 pages. Available in PDF, EPUB and Kindle. Book excerpt: Within the last decade, much progress has been made in the analysis and diagnosis of human inherited disease, and in the characterization of the underlying genes and their associated pathological lesions.

Medical Genetics for the MRCOG and Beyond

Author : Edward S. Tobias
Publisher : Cambridge University Press
ISBN 13 : 1107661307
Total Pages : 145 pages
Book Rating : 4.1/5 (76 download)

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Book Synopsis Medical Genetics for the MRCOG and Beyond by : Edward S. Tobias

Download or read book Medical Genetics for the MRCOG and Beyond written by Edward S. Tobias and published by Cambridge University Press. This book was released on 2014-03-20 with total page 145 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clear, understandable and concise with an accompanying internet guide, this is an unbeatable resource for learning, revision and staying up to date.

The Principles of Clinical Cytogenetics

Author : Steven L. Gersen
Publisher : Springer
ISBN 13 :
Total Pages : 580 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis The Principles of Clinical Cytogenetics by : Steven L. Gersen

Download or read book The Principles of Clinical Cytogenetics written by Steven L. Gersen and published by Springer. This book was released on 1999-03-17 with total page 580 pages. Available in PDF, EPUB and Kindle. Book excerpt: Enlightening and accessible, The Principles of Clinical Cytogenetics constitutes an indispensable reference for today's physicians who depend on the cytogenetics laboratory for the diagnosis of their patients.

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)

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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.

Medical Genetics

Author : G. Bradley Schaefer
Publisher : McGraw Hill Professional
ISBN 13 : 0071819282
Total Pages : 385 pages
Book Rating : 4.0/5 (718 download)

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Book Synopsis Medical Genetics by : G. Bradley Schaefer

Download or read book Medical Genetics written by G. Bradley Schaefer and published by McGraw Hill Professional. This book was released on 2013-11-22 with total page 385 pages. Available in PDF, EPUB and Kindle. Book excerpt: A complete introductory text on how to integrate basic genetic principles into the practice of clinical medicine Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as: The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes Each chapter of Medical Genetics is logically organized into three sections: Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.

Noninvasive Prenatal Testing (NIPT)

Author : Lieve Page-Christiaens
Publisher : Academic Press
ISBN 13 : 0128141905
Total Pages : 408 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Noninvasive Prenatal Testing (NIPT) by : Lieve Page-Christiaens

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

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)

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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

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)

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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.

Clinical Cardiogenetics

Author : H.F. Baars
Publisher : Springer Science & Business Media
ISBN 13 : 1849964718
Total Pages : 453 pages
Book Rating : 4.8/5 (499 download)

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Book Synopsis Clinical Cardiogenetics by : H.F. Baars

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?

Handbook of Clinical Adult Genetics and Genomics

Author : Shweta Dhar
Publisher : Academic Press
ISBN 13 : 0128173459
Total Pages : 530 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Handbook of Clinical Adult Genetics and Genomics by : Shweta Dhar

Download or read book Handbook of Clinical Adult Genetics and Genomics written by Shweta Dhar and published by Academic Press. This book was released on 2020-04-10 with total page 530 pages. Available in PDF, EPUB and Kindle. Book excerpt: Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. - Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders - Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics - Features chapter contributions from authors at leading adult genetics institutions in the US and abroad

Branching Processes in Biology

Author : Marek Kimmel
Publisher : Springer Science & Business Media
ISBN 13 : 0387216391
Total Pages : 242 pages
Book Rating : 4.3/5 (872 download)

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Book Synopsis Branching Processes in Biology by : Marek Kimmel

Download or read book Branching Processes in Biology written by Marek Kimmel and published by Springer Science & Business Media. This book was released on 2006-05-26 with total page 242 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book introduces biological examples of Branching Processes from molecular and cellular biology as well as from the fields of human evolution and medicine and discusses them in the context of the relevant mathematics. It provides a useful introduction to how the modeling can be done and for what types of problems branching processes can be used.

Heritable Human Genome Editing

Author : The Royal Society
Publisher : National Academies Press
ISBN 13 : 0309671132
Total Pages : 239 pages
Book Rating : 4.3/5 (96 download)

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Book Synopsis Heritable Human Genome Editing by : The Royal Society

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.