Genetic Translocations and Other Chromosome Aberrations

Genetic Translocations and Other Chromosome Aberrations PDF Author: Guy T. Leyden
Publisher: Nova Publishers
ISBN: 9781604563443
Category : Medical
Languages : en
Pages : 314

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Book Description
Chromosomal aberrations are disruptions in the normal chromosomal content of a cell, and are a major cause of genetic conditions in humans, such as Down syndrome. Some chromosome abnormalities do not cause disease in carriers, such as translocations, or chromosomal inversions, although they may lead to a higher chance of having a child with a chromosome disorder. Abnormal numbers of chromosomes or chromosome sets, aneuploidy, may be lethal or give rise to genetic disorders. Genetic counseling is offered for families that may carry a chromosome rearrangement. This book offers leading-edge research from around the world.

Genetic Translocations and Other Chromosome Aberrations

Genetic Translocations and Other Chromosome Aberrations PDF Author: Guy T. Leyden
Publisher: Nova Publishers
ISBN: 9781604563443
Category : Medical
Languages : en
Pages : 314

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Book Description
Chromosomal aberrations are disruptions in the normal chromosomal content of a cell, and are a major cause of genetic conditions in humans, such as Down syndrome. Some chromosome abnormalities do not cause disease in carriers, such as translocations, or chromosomal inversions, although they may lead to a higher chance of having a child with a chromosome disorder. Abnormal numbers of chromosomes or chromosome sets, aneuploidy, may be lethal or give rise to genetic disorders. Genetic counseling is offered for families that may carry a chromosome rearrangement. This book offers leading-edge research from around the world.

Chromosome Abnormalities and Genetic Counseling

Chromosome Abnormalities and Genetic Counseling PDF Author: R.J. MKinlay Gardner
Publisher: OUP USA
ISBN: 0195375335
Category : Medical
Languages : en
Pages : 650

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Book Description
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.

Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling

Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling PDF Author: R. J. McKinlay Gardner
Publisher: Oxford University Press
ISBN: 0199329001
Category : Medical
Languages : en
Pages : 729

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Book Description
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.

The Causes and Consequences of Chromosomal Aberrations

The Causes and Consequences of Chromosomal Aberrations PDF Author: Ilan R. Kirsch
Publisher: CRC Press
ISBN: 9780849388934
Category : Science
Languages : en
Pages : 556

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Book Description
The Causes and Consequences of Chromosomal Aberrations explores one of the most dramatic examples of genomic instability-chromosomal aberrations. It describes some of the more recent techniques used to map genes within the human genome, study chromosomal aberrations at the cellular level, and define the organization of the interphase nucleus. General overviews are provided to build a conceptual framework for understanding the generality and specificity of chromosomal aberrations. The Causes and Consequences of Chromosomal Aberrations also explores the role of recombinases and topoisomerases in the development of chromosomal aberrations. It contains studies of chromosomal aberrations, which offer separate instructive treatises on specific malignancies. The Causes and Consequences of Chromosomal Aberrations is useful to medical and graduate students, physicians, molecular biologists, and cytogeneticists. It will benefit anyone interested in the concepts, contributions, and development in the field of molecular cytogenetics.

MRCOG Part One

MRCOG Part One PDF Author: Alison Fiander
Publisher: Cambridge University Press
ISBN: 1107667135
Category : Education
Languages : en
Pages : 557

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Book Description
A fully updated and illustrated handbook providing comprehensive coverage of all curriculum areas covered by the MRCOG Part 1 examination.

Molecular Biology of B Cells

Molecular Biology of B Cells PDF Author: Tasuku Honjo
Publisher: Elsevier
ISBN: 0123984904
Category : Medical
Languages : en
Pages : 587

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Book Description
Molecular Biology of B Cells, Second Edition is a comprehensive reference to how B cells are generated, selected, activated and engaged in antibody production. All of these developmental and stimulatory processes are described in molecular, immunological, and genetic terms to give a clear understanding of complex phenotypes. Molecular Biology of B Cells, Second Edition offers an integrated view of all aspects of B cells to produce a normal immune response as a constant, and the molecular basis of numerous diseases due to B cell abnormality. The new edition continues its success with updated research on microRNAs in B cell development and immunity, new developments in understanding lymphoma biology, and therapeutic targeting of B cells for clinical application. With updated research and continued comprehensive coverage of all aspects of B cell biology, Molecular Biology of B Cells, Second Edition is the definitive resource, vital for researchers across molecular biology, immunology and genetics. - Covers signaling mechanisms regulating B cell differentiation - Provides information on the development of therapeutics using monoclonal antibodies and clinical application of Ab - Contains studies on B cell tumors from various stages of B lymphocytes - Offers an integrated view of all aspects of B cells to produce a normal immune response

Catalogue of Unbalanced Chromosome Aberrations in Man

Catalogue of Unbalanced Chromosome Aberrations in Man PDF Author: Albert Schinzel
Publisher: Walter de Gruyter GmbH & Co KG
ISBN: 311232904X
Category : Medical
Languages : en
Pages : 936

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Book Description
No detailed description available for "Catalogue of Unbalanced Chromosome Aberrations in Man".

Chromosomal Abnormalities

Chromosomal Abnormalities PDF Author: Marcelo Larramendy
Publisher: BoD – Books on Demand
ISBN: 9535134736
Category : Medical
Languages : en
Pages : 206

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Book Description
This edited book, Chromosomal Abnormalities - A Hallmark Manifestation of Genomic Instability, contains a series of chapters highlighting several aspects related to the generation of chromosomal abnormalities in genetic material. We are extremely grateful to the authors who had contributed with valuable information about the role of genomic instability in pathological disorders as well as in the evolution process.

Cytogenomics

Cytogenomics PDF Author: Thomas Liehr
Publisher: Academic Press
ISBN: 0128235802
Category : Science
Languages : en
Pages : 430

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Book Description
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

Medical Genetics for the MRCOG and Beyond

Medical Genetics for the MRCOG and Beyond PDF Author: Edward S. Tobias
Publisher: Cambridge University Press
ISBN: 1107661307
Category : Medical
Languages : en
Pages : 145

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Book Description
Clear, understandable and concise with an accompanying internet guide, this is an unbeatable resource for learning, revision and staying up to date.