Human Reproductive and Prenatal Genetics
Human Reproductive and Prenatal Genetics

Author: Peter C.K. Leung

Publisher: Elsevier

Published: 2023-03-22

Total Pages: 930

ISBN-13: 0323913814

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**Selected for Doody's Core Titles® 2024 in Clinical Genetics** Human Reproductive and Prenatal Genetics, Second Edition provides application-driven coverage of key topics in human reproductive and prenatal genetics, including genetic control underlying the development of the reproductive tracts and gametogenesis, the genetics of fertilization and implantation, the genetic basis of female and male infertility, as well as genetic and epigenetic aspects of assisted reproduction. Also examined are the genetics and epigenetics of the placenta in normal and abnormal pregnancy, preimplantation genetic diagnosis and screening, and cutting-edge advances in noninvasive prenatal screening, prenatal genetic counseling, and bioethical and medicolegal aspects of relevance in the lab and clinic. This new edition has been fully revised to address new and evolving technologies in human reproductive genetics, with new chapters added on chromatin landscapes and sex determination, genetic alterations of placental development and preeclampsia, metabolism and inflammation in PCOS, pre-implantational genetic testing, maternal genetic disorders, bioethics, and future applications. - Features chapter contributions from leading international scientists and clinicians - Provides in-depth coverage of key topics in human reproductive and prenatal genetics, including genetic controls, fertilization, placental development, embryo implantation, in vitro culture of the human embryo for the study of post-implantation development, and more - Identifies how researchers and clinicians can implement the latest genetic, epigenetic, and –omics-based approaches - Includes all new chapters on evolving technologies and recent genetic discoveries of relevance to reproductive medicine

Clinical Applications for Next-Generation Sequencing
Clinical Applications for Next-Generation Sequencing

Author: Urszula Demkow

Publisher: Academic Press

Published: 2015-09-10

Total Pages: 336

ISBN-13: 0128018410

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Clinical Applications for Next Generation Sequencing provides readers with an outstanding postgraduate resource to learn about the translational use of NGS in clinical environments. Rooted in both medical genetics and clinical medicine, the book fills the gap between state-of-the-art technology and evidence-based practice, providing an educational opportunity for users to advance patient care by transferring NGS to the needs of real-world patients. The book builds an interface between genetic laboratory staff and clinical health workers to not only improve communication, but also strengthen cooperation. Users will find valuable tactics they can use to build a systematic framework for understanding the role of NGS testing in both common and rare diseases and conditions, from prenatal care, like chromosomal abnormalities, up to advanced age problems like dementia. - Fills the gap between state-of-the-art technology and evidence-based practice - Provides an educational opportunity which advances patient care through the transfer of NGS to real-world patient assessment - Promotes a practical tool that clinicians can apply directly to patient care - Includes a systematic framework for understanding the role of NGS testing in many common and rare diseases - Presents evidence regarding the important role of NGS in current diagnostic strategies

Noninvasive Prenatal Testing (NIPT)
Noninvasive Prenatal Testing (NIPT)

Author: Lieve Page-Christiaens

Publisher: Academic Press

Published: 2018-08-19

Total Pages: 408

ISBN-13: 0128141905

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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

Genetics and Genomics of Eye Disease
Genetics and Genomics of Eye Disease

Author: Xiaoyi Raymond Gao

Publisher: Academic Press

Published: 2019-09-12

Total Pages: 386

ISBN-13: 0128167270

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Genetics and Genomics of Eye Disease: Advancing to Precision Medicine thoroughly examines the latest genomics methods for studying eye disease, including complex eye disorders associated with multiple genes. GWAS, WES, WGS, RNA-sequencing, and transcriptome analysis as employed in ocular genomics are discussed in-depth, as are genomics findings tied to early-onset glaucoma, strabismus, age-related macular degeneration, adult-onset glaucoma, diabetic retinopathy, keratoconus, and leber congenital amaurosis, among other diseases. Research and clinical specialists offer guidance on conducting preventative screenings and counseling patients, as well as the promise of machine learning, computational statistics and artificial intelligence in advancing ocular genomics research. - Offers thorough guidance on conducting genetic and genomic studies of eye disease - Examines the genetic basis of a wide range of complex eye diseases and single-gene and Mendelian disorders - Discusses the application of genetic testing and genetic risk prediction in eye disease diagnosis and patient counseling

Human Genetics and Genomics
Human Genetics and Genomics

Author: Bruce R. Korf

Publisher: John Wiley & Sons

Published: 2012-11-19

Total Pages: 280

ISBN-13: 1118537661

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This fourth edition of the best-selling textbook, Human Genetics and Genomics, clearly explains the key principles needed by medical and health sciences students, from the basis of molecular genetics, to clinical applications used in the treatment of both rare and common conditions. A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice. Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics. Key learning features include: Clinical snapshots to help relate science to practice 'Hot topics' boxes that focus on the latest developments in testing, assessment and treatment 'Ethical issues' boxes to prompt further thought and discussion on the implications of genetic developments 'Sources of information' boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including: Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.

Oxford Textbook of Obstetrics and Gynaecology
Oxford Textbook of Obstetrics and Gynaecology

Author: Sabaratnam Arulkumaran

Publisher: Oxford University Press

Published: 2020-01-16

Total Pages: 2413

ISBN-13: 0192515233

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The Oxford Textbook of Obstetrics and Gynaecology is an objective and readable text that covers the full speciality of obstetrics and gynaecology. This comprehensive and rigorously referenced textbook will be a vital resource in print and online for all practising clinicians. Edited by a team of four leading figures in the field, whose clinical and scientific backgrounds collectively cover the whole spectrum of obstetrics and gynaecology with particular expertise in fetomaternal medicine and obstetrics, gynaecological oncology, urogynaecology, and reproductive medicine, the textbook helps inform and promote evidence-based practice and improve clinical outcomes worldwide across all facets of the discipline. The editors are supported by contributors who are internationally renowned specialists and ensure high quality and global perspective to the work. Larger sections on the Basics in Obstetrics and Gynaecology, Fetomaternal Medicine, Management of Labour, Gynaecological problems, and Gynaecological Oncology are complimented by specialist sections on areas such as Neonatal Care and Neonatal Problems, Reproductive Medicine, and Urogynaecology and Pelvic Floor Disorders to name a few. The evidence-based presentation of diagnostic and therapeutic methods is complemented in the text by numerous treatment algorithms, giving the reader the knowledge and tools needed for effective clinical practice. The Oxford Textbook of Obstetrics and Gynaecology is essential reading for obstetricians and gynaecologists, subspecialists, and trainees across the world.

Your Genes, Your Choices
Your Genes, Your Choices

Author: Catherine Baker

Publisher:

Published: 1996

Total Pages: 96

ISBN-13: 9780871686367

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Program discusses the Human Genome Project, the science behind it, and the ethical, legal and social issues raised by the project.

Guidelines for the Care and Use of Mammals in Neuroscience and Behavioral Research
Guidelines for the Care and Use of Mammals in Neuroscience and Behavioral Research

Author: National Research Council

Publisher: National Academies Press

Published: 2003-08-22

Total Pages: 223

ISBN-13: 030916785X

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Expanding on the National Research Council's Guide for the Care and Use of Laboratory Animals, this book deals specifically with mammals in neuroscience and behavioral research laboratories. It offers flexible guidelines for the care of these animals, and guidance on adapting these guidelines to various situations without hindering the research process. Guidelines for the Care and Use of Mammals in Neuroscience and Behavioral Research offers a more in-depth treatment of concerns specific to these disciplines than any previous guide on animal care and use. It treats on such important subjects as: The important role that the researcher and veterinarian play in developing animal protocols. Methods for assessing and ensuring an animal's well-being. General animal-care elements as they apply to neuroscience and behavioral research, and common animal welfare challenges this research can pose. The use of professional judgment and careful interpretation of regulations and guidelines to develop performance standards ensuring animal well-being and high-quality research. Guidelines for the Care and Use of Mammals in Neuroscience and Behavioral Research treats the development and evaluation of animal-use protocols as a decision-making process, not just a decision. To this end, it presents the most current, in-depth information about the best practices for animal care and use, as they pertain to the intricacies of neuroscience and behavioral research.