Copy Number Variation In Rare Disorders

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Copy Number Variation In Rare Disorders

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Author : Judit Bene
language : en
Publisher: Frontiers Media SA
Release Date : 2022-04-28

Copy Number Variation In Rare Disorders written by Judit Bene and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-04-28 with Science categories.

Rare Genetic Disorders

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Author : Muhammad Umair
language : en
Publisher: Springer Nature
Release Date :

Rare Genetic Disorders written by Muhammad Umair and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on with categories.

Next Generation Sequencing Ngs For Rare Diseases Diagnosis Volume Ii

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Author : Xiu-An Yang
language : en
Publisher: Frontiers Media SA
Release Date : 2023-07-31

Next Generation Sequencing Ngs For Rare Diseases Diagnosis Volume Ii written by Xiu-An Yang and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-07-31 with Science categories.

Single Cell Sequencing And Methylation

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Author : Buwei Yu
language : en
Publisher: Springer
Release Date : 2021-10-04

Single Cell Sequencing And Methylation written by Buwei Yu and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-10-04 with Science categories.

With the rapid development of biotechnologies, single-cell sequencing has become an important tool for understanding the molecular mechanisms of diseases, defining cellular heterogeneities and characteristics, and identifying intercellular communications and single-cell-based biomarkers. Providing a clear overview of the clinical applications, the book presents state-of-the-art information on immune cell function, cancer progression, infection, and inflammation gained from single-cell DNA or RNA sequencing. Furthermore, it explores the role of target gene methylation in the pathogenesis of diseases, with a focus on respiratory cancer, infection and chronic diseases. As such it is a valuable resource for clinical researchers and physicians, allowing them to refresh their knowledge and improve early diagnosis and therapy for patients.

Cytogenomics

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Author : Thomas Liehr
language : en
Publisher: Academic Press
Release Date : 2021-05-25

Cytogenomics written by Thomas Liehr and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-05-25 with Science categories.

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

A Time For Metabolism And Hormones

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Author : Paolo Sassone-Corsi
language : en
Publisher: Springer
Release Date : 2016-04-04

A Time For Metabolism And Hormones written by Paolo Sassone-Corsi and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016-04-04 with Medical categories.

Recent years have seen spectacular advances in the field of circadian biology. These have attracted the interest of researchers in many fields, including endocrinology, neurosciences, cancer, and behavior. By integrating a circadian view within the fields of endocrinology and metabolism, researchers will be able to reveal many, yet-unsuspected aspects of how organisms cope with changes in the environment and subsequent control of homeostasis. This field is opening new avenues in our understanding of metabolism and endocrinology. A panel of the most distinguished investigators in the field gathered together to discuss the present state and the future of the field. The editors trust that this volume will be of use to those colleagues who will be picking up the challenge to unravel how the circadian clock can be targeted for the future development of specific pharmacological strategies toward a number of pathologies.

Genomic Disorders

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Author : James R. Lupski
language : en
Publisher: Springer Science & Business Media
Release Date : 2007-11-10

Genomic Disorders written by James R. Lupski and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2007-11-10 with Medical categories.

A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

Encyclopedia Of Autism Spectrum Disorders

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Author : Fred R. Volkmar
language : en
Publisher:
Release Date : 2016

Encyclopedia Of Autism Spectrum Disorders written by Fred R. Volkmar and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016 with Autism in children categories.

Autism Spectrum Disorders

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Author : Stephen Deutsch
language : en
Publisher: BoD – Books on Demand
Release Date : 2011-08-01

Autism Spectrum Disorders written by Stephen Deutsch and has been published by BoD – Books on Demand this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-08-01 with Science categories.

Estimated prevalence rates of autism spectrum disorders (ASDs) have increased at an alarming rate over the past decade; current estimates stand as high as 1 in 110 persons in the population with a higher ratio of affected males to females. In addition to their emotional impact on the affected persons and their family members (in fact, the latter are often unrecognized unaffected “patients” themselves), the economic and social impacts of ASDs on society are staggering. Persons with ASDs will need interdisciplinary approaches to complex treatment and life planning, including, but not limited to, special education, speech and language therapy, vocational skills training and rehabilitation, social skills training and cognitive remediation, in addition to pharmacotherapy. The current book highlights some of the recent research on nosology, etiology, and pathophysiology. Additionally, the book touches on the implications of new research for treatment and genetic counseling. Importantly, because the field is advancing rapidly, no book can be considered the final word or finished product; thus, the availability of open access rapid publication is a mechanism that will help to assure that readers remain current and up-to-date.

Pharmacoepigenetics

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Author : Ramón Cacabelos
language : en
Publisher: Elsevier
Release Date : 2024-09-01

Pharmacoepigenetics written by Ramón Cacabelos and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2024-09-01 with Science categories.

Pharmacoepigenetics, Second Edition, a volume within the Translational Epigenetics series, is a comprehensive reference on the role of epigenetics and epigenomics in drug discovery and development, providing a detailed, but accessible view of the field, from basic principles to applications in disease therapeutics. Leading international researchers from across academia, clinical settings, and the pharmaceutical industry discuss the influence of epigenetics and epigenomics in human pathology, epigenetic biomarkers for disease prediction, diagnosis, and treatment, current epigenetic drugs, and the application of epigenetic procedures in drug development. Throughout the book, chapter authors offer a balanced and objective discussion of the future of pharmacoepigenetics and its crucial contribution to the growth of precision and personalized medicine.The new edition has been fully revised to address recent advances in epigenetics, from new natural and synthetic compounds with epigenetic effects to the role of epigenetics in the pathogenesis of a growing number of complex diseases, including further cancers, cardiovascular disorders, and brain disorders. Newly identified molecular components in the functional architecture of the epigenetic machinery, as well as practical and relevant pharmacoepigenetics topics related to COVID-19 and other world health challenges, are also discussed. Each chapter has been updated to include a chapter summary, keywords and definitions, and further color figure and charts for learning reinforcement, along with clinical research case studies illustrating key research in the field and making findings and research approaches more actionable for readers. Fully examines the influence of epigenetics and epigenomics in human pathology, epigenetic biomarkers for disease prediction, diagnosis, treatment, current epigenetic drugs, and the application of epigenetic procedures in drug development Features chapter contributions from leading international researchers in academia, clinical settings, and the pharmaceutical industry Instructs researchers, students, and clinicians in better interpreting and employing pharmacoepigenetics in drug development, efficiency, and safety Incorporates recent advances, including epigenetic drugs and biomolecules with epigenetic effects in cancer, cardiovascular disorders, brain disorders, and COVID-19 Includes chapter definitions, key words, and summaries to reinforce understanding, as well clinical research case studies illustrating key research in the field