Medical genetics

Why should the gene be suggested to be inconstant when the contrary view, that gene structure is invariant except through mutagenic processes induced by potent external factors, has long been a universal doctrine of genetics?

This authoritative textbook offers in-depth coverage of all aspects of molecular pathology practice and embodies the current standard in molecular testing.

This volume introduces software used for gene prediction with focus on eukaryotic genomes.

This second edition volume expands on the previous edition with updated techniques and discussions on topics such as gene suppression, editing, and reprogramming; cardiac gene therapy vectors and promoters; cardiac gene delivery methods; pulmonary hypertension; and patient screening and measuring the efficacy of cardiac gene therapy.

This book reviews recent knowledge of the role of stem cells in the gastrointestinal system.

Now in its 2nd edition, this manual describes laboratory methodology for the diagnosis of inherited metabolic diseases.

Long non-coding RNAs (lncRNAs), tentatively defined as ncRNAs of more than two hundred nucleotides in length, are characterized by the complexity and diversity of their sequences and mechanisms of action.

Drawing on fieldwork with British Pakistani clients of a UK genetics service, this book explores the personal and social implications of a genetic diagnosis .

Commonly used by researchers to develop technologies for modifying and studying genetic process, RNA interference (RNAi) has many potential uses in medicine, biotechnology, and functional genomics.

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This comprehensive handbook synthesizes the often-fractured relationship between the study of biology and the study of society.

This textbook introduces fundamental concepts of bioinformatics and computational biology to the students and researchers in biology, medicine, veterinary science, agriculture, and bioengineering .

The aim of DEALING WITH DILEMMA is to inte- grate medical and genetic information with the psychoso- cial aspects of genetic counseling, in order to provide a working manual for genetic counselors.

Bioarrays: From Basics to Diagnostics provides an integrated and comprehensive collection of timely articles on the use of bioarray techniques in the fields of biotechnology and molecular medicine.

An authoritative collection of recent breakthroughs in Parkinson's Disease (PD) research, Parkinson's Disease: Genetics and Pathogenesis spans key findings on the mechanisms of neurodegeneration and the role of specific genes that may lead to improved therapies for PD.

The year 2003 marks the tenth anniversary of the first use of the acronym "e;Stat"e; (also written "e;STAT"e;) in the scientific literature for a family of transcription factors which rapidly transduce cytokine-and growth factor- elicited signals from the plasma membrane to the cell nucleus thereby activating gene transcription (thus, .

This book provides an integral approach to the history and current methods for manipulation of embryonic stem (ES) cells by recognised experts.

The concept of immunotherapy was in infancy when the first edition was written; since then, major advances have been made, not only with several prominent clinical trials, but also with the approval of cell-based therapy by the FDA for the treatment of cancer in 2010.

Toxicogenomics is a discipline that combines expertise in toxicology, genetics, molecular biology, and environmental health to help understand the response of living organisms to stressful environments.

The therapeutic potential of the use of adipose stem cells in regenerative medicine has been increasingly recognized, and in recent years concrete clinical benefits have accrued as these cells have been explored for a variety of applications.

To create a forum for scientists and clinicians interested in degenerative retinal diseases, we began in 1984 to organize a biennial symposium on Retinal Degeneration as a satellite meeting of the International Congress of Eye Research.

This volume provides clear and direct protocols to implement automated Design-Build-Test-Learn (DBTL) into synthetic biology research.

This volume explores techniques used to study and experiment with Xenopus in order to model or understand human disease.

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders.

Turbellaria, the mainly free-living flatworms, and some of their parasitic relatives, are among the simplest of the metazoa and, as such, provide ideal models for a wide range of fundamental studies.

Much research has focused on the basic cellular and molecular biological aspects of stem cells.

Translating bench-based research into effective bedside practice, this source provides a clear understanding of the neurobiology and neurogenetics of psychiatric disorders, the genes responsible for specific psychiatric disorders, and the implications of genetic roots and underlying biology on the development of new diagnostic approaches and treatment therapies.

The field of vascular anomalies has grown rapidly in last 25 years.

The introduction of Next Generation Sequencing (NGS) technologies resulted in a major transformation in the way scientists extract genetic information from biological systems, revealing limitless insight about the genome, transcriptome and epigenome of any species.

MicroRNAs in Medicine provides an access point into the current literature on microRNA for both scientists and clinicians, with an up-to-date look at what is happening in the emerging field of microRNAs and their relevance to medicine.

This volume explores methods and protocols for detecting epistasis from genetic data.

Animal Biotechnology: Models in Discovery and Translation, Second Edition, provides a helpful guide to anyone seeking a thorough review of animal biotechnology and its application to human disease and welfare.

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This book, now in an extensively revised second edition, provides a comprehensive summary of the latest knowledge regarding glycosignals and a thorough analysis of their involvement in not only cancers but also other refractory conditions such as chronic inflammatory disorders.

Oksana Ableitner offers a practical, clearly structured and easy to understand introduction to complicated definitions and structures in chemistry and molecular biology for work in the molecular biology laboratory.

This thoroughly revised third edition provides a comprehensive grounding on hereditary heart diseases with special emphasis on the genetic aspects of these conditions.

This proceedings volume includes selected papers presented at the international symposium `Live Food Organisms in Marine Larviculture' held in Nagasaki, Japan, September 1-4 1996.

Clinical Applications of Immunogenetics: Immunogenetics: A Molecular and Clinical Overview, Volume II provides readers with an exclusive, updated overview of scientific knowledge, achievements and findings in the field of immunogenetics.

The fourth, completely revised edition of this classic reference and textbook presents a cohesive and up-to-date exposition of the concepts, results, and problems underlying theory and practice in human and medical genetics.

In the coming decade, the focus of medicine will shift from a disease-oriented approach, where the physician prescribes according to the disease the patient has, to a personalized approach, in which the physician first considers the patient's individual biochemistry before prescribing a treatment.

Adenoviral Vectors for Gene Therapy, Second Edition provides detailed, comprehensive coverage of the gene delivery vehicles that are based on the adenovirus that is emerging as an important tool in gene therapy.