SpringerBriefs in Genetics – serie
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4 produkter
4 produkter
Hereditary Retinopathies
Progress in Development of Genetic and Molecular Therapies
Häftad, Engelska, 2012
555 kr
Skickas inom 10-15 vardagar
The hereditary retinopathy, retinitis pigmentosa (RP), which affects 1 in 3,500 people worldwide, is the most common cause of registered visual handicap among those of the working age in developed countries. RP is a highly variable disorder where patients may develop symptomatic visual loss in early childhood, while others may remain asymptomatic until mid-adulthood. Most cases of RP segregate in autosomal dominant, recessive or X-linked recessive modes, with approximately 41 genes being implicated in disease pathology to date (RetNet). The extensive genetic heterogeneity associated with autosomal dominant RP (adRP) is an undisputed hindrance to the development of genetically based therapeutics.
555 kr
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In recent years, epigenetic approaches to existing scientific problems have offered many new and exciting perspectives. This book focuses on epigenetic approaches to study asthma and allergy research. The authors briefly review cellular factors, immune signaling, and inflammatory pathways in allergy and asthma, as well as genetic influences in the pathogenesis of atopic disorders. Diseases that have been clearly linked to an epigenetic dysregulation will be discussed, as well as the role of epigenetics in the origin of complex diseases. The authors will examine the impact of environment factors in the predisposition to atopic disorders, and they will also describe the major unanswered questions and future perspectives of an exciting new field that studies allergic diseases from the epigenetic point of view.
774 kr
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This book introduces readers to Next Generation Sequencing applications in medical genetics. The authors discuss the direct application of next-generation sequencing to medicine, specifically, laboratory medicine or molecular diagnostics. The first part of the book contains chapters on sanger sequencing, NGS technologies, targeted-amplification and capture, and exome sequencing. The second part of the book focuses on genetic disorders diagnoses by NGS, prenatal diagnosis, muscular dystrophies, mitochondrial disorders diagnosis, and challenges in molecular diagnosis. Recent developments and potential future trends in NGS sequencing applications are highlighted, as well.
539 kr
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This book provides an evolutionary conceptual framework for comparative genomics, with the ultimate objective of understanding the loss and gain of genes during evolution, the interactions among gene products, and the relationship between genotype, phenotype and the environment. The many examples in the book have been carefully chosen from primary research literature based on two criteria: their biological insight and their pedagogical merit. The phylogeny-based comparative methods, involving both continuous and discrete variables, often represent a stumbling block for many students entering the field of comparative genomics. They are numerically illustrated and explained in great detail. The book is intended for researchers new to the field, i.e., advanced undergraduate students, postgraduates and postdoctoral fellows, although professional researchers who are not in the area of comparative genomics will also find the book informative.