DNA Alterations in Lynch Syndrome: Advances in molecular diagnosis and genetic counselling

 Genetics  Comments Off on DNA Alterations in Lynch Syndrome: Advances in molecular diagnosis and genetic counselling
Oct 142018
 

Lynch syndrome (LS) is the most common cause of inherited colorectal cancer, a disease with a high mortality rate. An estimated 37,000 of diagnosed colorectal cancer cases worldwide are attributed to Lynch syndrome each year.

Intensive cancer screening, with early initiation and frequent follow-up, can reduce colorectal cancer incidence and mortality in LS patients. This book provides an up-to-date overview on the genetic and epigenetic basis of Lynch syndrome. It evaluates clinical features of the disease and critically comments on molecular tools available for identifying mutations responsible for Lynch syndrome; in addition the importance of functional assays that can help clarify the clinical nature of identified mutations is also discussed. The book also focuses on challenges in genetic counselling of at-risk individuals and discusses related ethical issues. The purpose of the book is to give a concise knowledge base for the broader scientific and medical community, including genetic counselors, in order to improve awareness on the potential impact that the diagnosis of LS has on treatment, management and surveillance of LS patients.

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Molecular, Genetic, and Cellular Advances in Cerebrovascular Diseases

 Genetics  Comments Off on Molecular, Genetic, and Cellular Advances in Cerebrovascular Diseases
Oct 092018
 

This book will cover recent advances in genetics and molecular biology of cerebrovascular diseases, including ischemic stroke, brain arteriovenous malformation, brain aneurysms, and cavernous malformation. Developments in diagnostics, imaging and treatment will also be discussed.
Much progress has been made in recent years in these fields, but not been summarized in one comprehensive text. This volume fills the gap in the literature by compiling them in one convenient, handy volume for neuroscience researchers and medical professionals.

Readership: Neurologists, neurobiologists, neuroscientists

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Risky Genes: Genetics, Breast Cancer, and Jewish Identity

 Genetics, Oncology  Comments Off on Risky Genes: Genetics, Breast Cancer, and Jewish Identity
Sep 252018
 

Ashkenazi Jews have the highest known population risk of carrying specific mutations in the high-risk breast cancer genes, BRCA1 and BRCA2. So what does it mean to be told you have an increased risk of genetic breast cancer because you are of Ashkenazi Jewish origin? In a time of ever-increasing knowledge about variations in genetic disease risk among different populations, there is a pressing need for research regarding the implications of such information for members of high-risk populations. Risky Genes provides first-hand intimate descriptions of women s experiences of being Jewish and of being at increased risk of genetic breast cancer. It explores the impact this knowledge has on their identity and understanding of belonging to a collective. Using qualitative data from high-risk Ashkenazi women in the UK, this book elucidates the importance of biological discourses in forging Jewish self-identity and reveals the complex ways in which biological and social understandings of Jewish belonging intersect. In Risky Genes, Jessica Mozersky reflects upon and offers new insight into the ongoing debates regarding the implications of genetic research for populations, and of new genetic knowledge for individual and collective identity. The book will be of interest to students and scholars of sociology, anthropology, Jewish studies, medical genetics, medical ethics, religious studies, and race and ethnic studies.
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Genetics 101: From Chromosomes and the Double Helix to Cloning and DNA Tests, Everything You Need to Know about Genes

 Genetics  Comments Off on Genetics 101: From Chromosomes and the Double Helix to Cloning and DNA Tests, Everything You Need to Know about Genes
Jul 302018
 

A clear and straightforward explanation of genetics in this new edition of the popular 101 series.

Our genetic makeup determines so much about who we are, and what we pass on to our children—from eye color, to height, to health, and even our longevity. Genetics 101 breaks down the science of how genes are inherited and passed from parents to offspring, what DNA is and how it works, how your DNA affects your health, and how you can use your personal genomics to find out more about who you are and where you come from.

Whether you’re looking for a better scientific understanding of genetics, or looking into your own DNA, Genetics 101 is your go-to source to discover more about both yourself and your ancestry.

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Clinical Relevance of Genetic Factors in Pulmonary Diseases

 Genetics  Comments Off on Clinical Relevance of Genetic Factors in Pulmonary Diseases
Jul 282018
 

This book describes the underlying genetic basis of common pulmonary diseases and discusses their pathogenesis and pathophysiology. These insights provide the basis for understanding different subtypes and phonotypes, and will promote better treatment strategies and individualized medicine. The book provides new and valuable information for the development of the areas of study, as well as practical guidelines for clinicians engaged in treating pulmonary diseases.
This volume of the Respiratory Disease Series – Diagnostic Tools and Disease Managements will broaden the understanding of beginning and experienced researchers and clinicians who treat pulmonary diseases. Moreover, residents and clinicians engaged in medical oncology will find it a valuable guide to support them in their day-to-day work.

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Clinical Genetics in Nursing Practice: Third Edition

 Genetics, Nursing  Comments Off on Clinical Genetics in Nursing Practice: Third Edition
Jul 222018
 

The third edition of this award-winning text provides new and updated knowledge about genetics issues relevant to nursing practice. Read in sequence or used as a reference, this is a comprehensive overview of how genetics affetcs the care that nurses provide. In addition to a summary of basic human genetics and discussion of the Human Genome Project, this new edition includes the latest research findings and implications about inheritance, major genetic disorders (cytogenetics or chromosomal, inherited biochemical, and congenital anomalies), and genetics in twin studies. A consideration of the ethical impact of genetics on society and future generations, as well as information on assisted reproduction round out the overview.

Includes over 100 illustrations and photos of specific genetic disorders; tables and figures on the distribution of disease; and an extensive appendix listing associations, organizations, and websites relevant to genetics.

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Helicobacter Pylori Protocols (Methods in Molecular Medicine)

 Genetics  Comments Off on Helicobacter Pylori Protocols (Methods in Molecular Medicine)
May 252018
 

Helicobacter pylori Protocols offers an outstanding collection of state-of-the-art protocols for the identification and molecular manipulation of H. pylori. The authoritative contributors supply detailed and readily reproducible protocols for the culturing of H. pylori, for the isolation and restriction endonuclease digestion of H. pylori chromosomal DNA, and for the transformation and insertional mutagenesis of H. pylori. They also provide molecular epidemiological techniques, including ribotyping, PCR-RFLP, and RAPD-PCR. These procedures have been developed by leading practitioners to solve the difficult technical problems created by the application of the powerful bacterial genetic and molecular cloning techniques to H. pylori.
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Understanding Breast Cancer Genetics

 Genetics, Oncology  Comments Off on Understanding Breast Cancer Genetics
May 212018
 

Health & Sickness – Consumer Health –>
This book by a scientist whose background is in cellular and molecular biology examines the fearsome disease that strikes one in eight women in the United States. Although women are more likely to die of heart disease or of lung cancer, a diagnosis of breast cancer is the medical pronouncement that a woman is most likely to fear. It kills more than 40,000 Americans annually.
Why are some women more vulnerable than others? The interplay between genetics and environment is suspected.
Thus this book for general readers will help them understand the genetic bases of both sporadic and inherited breast cancers. Although only five to ten percent of breast cancer patients have inherited mutations in these genes, all women need to understand the genetic implications of the disease. In clear, concise language Barbara T. Zimmerman guides the reader through the complexities, discussing in detail the genes that are known to increase susceptibility and the ways they are passed on.
Examining the general biology of breast cancer, Zimmerman describes how sporadic and inherited forms of the disease arise and how the location of the tumors can affect the body. She discusses genetic mutations and their roles in the development of tumors and tells how these potentially cancer-inducing genes were discovered.
Covered too are the issues of risk, prevention, screening, diagnosis, therapy, and genetic testing and counseling. Zimmerman concludes with a comprehensive analysis of current research and with an emphasis on how a woman’s understanding of inherited breast cancer can help doctors seeking to design better methods for prevention and therapy. A useful list of resources for further information about the genetic causes of breast cancer is included.
Barbara T. Zimmerman did her graduate work in experimental pathology and her post-doctoral research in the cellular and molecular processes of disease. Widely published, she is the manager of the Denver-based firm Biomedical Communication and Consulting.

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Hereditary Colorectal Cancer: Genetic Basis and Clinical Implications

 Genetics, Oncology  Comments Off on Hereditary Colorectal Cancer: Genetic Basis and Clinical Implications
May 192018
 


This book provides information on a wide variety of issues ranging from genetics to clinical description of the syndromes, genetic testing and counseling, and clinical management including surveillance, surgical and prophylactic interventions, and chemoprevention. Moreover, current hot issues, such as the identification of novel causal genes and the challenges we face, and the relevance of cancer risk modifiers, both genetic and environmental, are also discussed.
This reference book is great for geneticists, oncologists, genetic counselors, researchers, clinicians, surgeons and nurses dedicated to, or interested in, hereditary cancer. The best and most recognized experts in the field have contributed to this project, guaranteeing updated information, accuracy and the discussion of topical issues.

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Clinical Cardiogenetics, 2nd Edition

 Cardiovascular, Genetics  Comments Off on Clinical Cardiogenetics, 2nd Edition
May 172018
 

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?

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