Epigenetic Contributions in Autoimmune Disease

 Genetics  Comments Off on Epigenetic Contributions in Autoimmune Disease
Oct 112019
 

This volume focuses on the relevance of epigenetic mechanisms in autoimmune disease. It provides new directions for future research in autoimmune disease.
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Practical Preimplantation Genetic Diagnosis Edition 2

 Genetics  Comments Off on Practical Preimplantation Genetic Diagnosis Edition 2
Sep 222019
 


Although treatment remains the major goal in the control of genetic disease, this is not yet a reality for most inherited conditions. In the absence of radical treatment, preimplantation genetic diagnosis (PGD) offers the answer to the control of these inherited conditions by predicting reproductive outcome. PGD is now entering its third decade as an established procedure for genetic and assisted reproduction practices, with new and exciting developments changing the whole concept of prevention of congenital disorders. The availability of practical experience from tens of thousands of PGD cases makes it necessary to update the current information on its accuracy, reliability and safety.
The Second Edition of this successful book updates the progress in prevention of genetic disorders to demonstrate the important place of PGD in primary preventive measures and its increasing role in providing the whole range of reproduction options to couples at risk. In addition, it provides an extensive review of the most recent developments within the field of PGD including, PGD for expanding indications such as de novo mutations, cancers, inherited cardiac diseases and combined PGD for single gene disorders, HLA typing and 24 chromosome testing in patients of advance reproductive age.
This practical book is vital for all practitioners within the field of fertility, reproductive medicine and medical genetics. It will also be useful for those responsible for planning and organizing PGD services and provides a working manual for the establishment and performance of PGD in the framework of IVF and genetic practices.

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Color Atlas of Genetics Edition 4

 Genetics  Comments Off on Color Atlas of Genetics Edition 4
Aug 102019
 

Ever since the international Human Genome Project achieved its extraordinary goal of sequencing and mapping the entire human genome—with far-reaching implications for understanding the causes and diagnosis of human genetic disorders—progress in the field has been rapid. In the fourth edition of the bestselling Color Atlas of Genetics, readers will get a full overview of the field today, with an emphasis on the interface between fundamental principles and practical applications in medicine. The book utilizes the signature Flexibook format designed for easy visual learning and retention, and is invaluable for students, clinicians, and scientists interested in keeping current in this fast-moving area.
New topics in the fully revised fourth edition of this highly praised atlas:
Genetic signaling pathways involved in genetic disorders
DNA repair systems
Genomic disorders and genome-wide association studies
Cancer genomes
Ciliopathies, neurocristopathies, and other groups of causally related disorders
Epigenetic changes in certain disorders
Illustrated outline of human evolution
With almost 200 stunning color plates concisely explained on facing pages, and including useful tables of data, a glossary of terms, key references, and online resources, this book makes every concept clear and accessible. It is an excellent introduction to genetics and basic genomics for students of medicine and biology, as well as an ideal teaching aid and refresher for investigators in any field of medicine or science.

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Preimplantation Genetic Diagnosis Edition 2

 Genetics  Comments Off on Preimplantation Genetic Diagnosis Edition 2
Jul 272019
 

Preimplantation genetic diagnosis (PGD) is a key technique in modern reproductive medicine. Originally developed to help couples who were at risk of transmitting single-gene genetic abnormalities to their children, the development of the FISH technique broadened chromosome analysis to include detection of more complex inherited abnormalities. The last decade has seen the development of aneuploidy screening (PGS) for infertile couples, using the same techniques as PGD but screening for as many chromosomes as possible. PGD has always been a controversial procedure and embryo manipulation and selection is still illegal in some countries. The second edition of this leading textbook describes all aspects of PGD, with chapters written by key international experts in the field. A must for anyone interested in learning more about PGD, it will be of interest to everyone working in the fields of IVF, genetic diagnosis, genetic counselling, and prenatal diagnosis – including clinicians, embryologists, nurses, and clinical scientists.

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Genetic Damage in Human Spermatozoa Edition 2

 Genetics  Comments Off on Genetic Damage in Human Spermatozoa Edition 2
Jul 202019
 

There are several types of damage that can be found in the male gamete. This book covers the genetic damage in spermatozoa that can originate during spermatogenesis, or during transit in both male and female genital tracts. Damage can also be due to ageing, environmental or iatrogenic conditions, as well as to the protocols to cryopreserve and to select spermatozoa in assisted reproduction techniques. The purpose of this book is to provide a comprehensive resource for all possible DNA damages in sperm, the relation to fertility and infertility, and possible transgenerational heritable effects.
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Male Reproductive Cancers: Epidemiology, Pathology and Genetics

 Epidemiology, Genetics, Oncology, Pathology, Reproductive Health  Comments Off on Male Reproductive Cancers: Epidemiology, Pathology and Genetics
Jul 192019
 

Male Reproductive Cancers: Epidemiology, Pathology and Genetics presents a thoughtful, comprehensive and up-to-date overview of the etiology of the prostate gland and the testes, summarizing decades of research in the three most important etiological disciplines: epidemiology, pathology and genetics. This book is comprised of four distinct sections: Epidemiology, Pathology, Molecular Genetics, and Inherited Susceptibility, with each section divided into chapters categorized by disease. Section A reviews the epidemiology of prostate and testicular cancer, with an emphasis on clinical and environmental factors associated with these diseases. Section B begins by describing various pathological features of prostate cancer, followed by descriptions of the wide variety of testicular cancers as well as a brief section on the use of tumor markers for monitoring disease. Section C focuses on somatic genetic changes in prostate and testicular cancers using new technologies such as comparative genomic hybridization and gene expression profiling. Section D concentrates on the progress made toward understanding inherited susceptibility to prostate cancer and to testicular cancer.
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The Genetics of Neurodevelopmental Disorders

 Genetics, Neurology/Neurosurgery  Comments Off on The Genetics of Neurodevelopmental Disorders
Jul 122019
 


Neurodevelopmental disorders arise from disturbances to various processes of brain development, which can manifest in diverse ways. They encompass many rare genetic syndromes as well as common, heritable conditions such as intellectual disability, autism, ADHD, schizophrenia and many types of epilepsy. The Genetics of Neurodevelopmental Disorders examines recent revolutionary advances in our understanding of the genetics of these disorders, exploring both basic discoveries and the translation of new findings into the clinical setting.
The book begins by examining the genetic architecture and etiology of neurodevelopmental disorders. It describes the striking recent progress in identifying pathogenic mutations, which are grouped here based on the neurodevelopmental processes impacted. Subsequent chapters consider the use of cellular and animal models to elucidate the cascading consequences of such mutations, from molecular and cellular levels to emergent effects on neural circuits, brain systems and subsequent psychological development. The text concludes by examining the important clinical implications of the recent advances in the field, from recognition of the genetic causes in individual patients to development of new treatments and interventions.
A timely synthesis, The Genetics of Neurodevelopmental Disorders is a unique and essential resource for neuroscientists, geneticists, neurologists and psychiatrists and an accessible and up-to-date overview for medical and science students.
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Practical Genetic Counseling, 7th Edition

 Genetics  Comments Off on Practical Genetic Counseling, 7th Edition
Jul 012019
 

Now, in a seventh edition, this best-selling book provides invaluable, up-to-date guidance, distilling the profusion of new information of those at risk from inherited disorders.With a clear layout and an accessible style, Dr. Harper brings an unparalleled reputation for providing helpful advice and guidance. This is essential reading for genetic counselors and anyone in the field of genetics.
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Genetics for Ophthalmologists: The Molecular Genetic Basis of Ophthalmic Disorders

 Genetics, Ophthalmology  Comments Off on Genetics for Ophthalmologists: The Molecular Genetic Basis of Ophthalmic Disorders
Jun 202019
 

Over the past decade advances in molecular biology have transformed our understanding of the genetic basis of a broad range of ophthalmic conditions and of the disease processes that underlie them. This work gives a concise summary of the current clinical understanding of genetic ophthalmology and how it may be applied to diagnosis management and counselling of patients with inherited eye diseases. In addition the book gives detailed information of recent advances in genetic eye disease and how disease pathophysiology correlates with this molecular genetic information. It is aimed at general and specialist ophthalmologists, at trainees or all levels as well as at clinical and molecular geneticists interested in the genetics of eye disease.
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Controlled Genetic Manipulations (Neuromethods, v65)

 Genetics  Comments Off on Controlled Genetic Manipulations (Neuromethods, v65)
Jun 122019
 

The current demand for the development of techniques for controlled genetic manipulations is driven by the anatomical and physiological complexity of the brain and by the need for experimental models that can address this complexity through selective manipulation of defined components of the system: specific neuronal populations or selected synapses.  In Controlled Genetic Manipulations, expert researchers present detailed chapters to supply basic technical information about controlled genetic manipulations and to provide examples of creative implementation of this methodology when addressing a unique biological problem. Some chapters of the book describe the most recent developments in the basic methodology, which includes use of Cre-recombinase, methods for delivery of genetic material into the brain and the use of optogenetics, whereas other chapters focus on applying these techniques to addressing particular biological questions like structural and functional mapping of neuronal circuits, analysis of specific synaptic connections, modeling or gene therapy of neurological disorders.  As part of the Neuromethods series, chapters include key implementation advice that is crucial for getting optimal results.   Authoritative and practical, Controlled Genetic Manipulations serves as a valuable guide to a variety of techniques, provided by many of the pioneers of the approaches.
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