Genetica
Tutti i libri di Genetica - Pagina 11
Handbook of Chromosomal Syndromes
Digamber S. Borgaonkar
,
G. Shashidhar Pai
e altri
editore: John Wiley & Sons Inc
pagine: 376
Consisting of more than 200 chromosomal aneuploidy syndromes, the Handbook Chromosomal Syndromes is the up-to-date reference to focus exclusively on clinical syndromes due to chromosomal abnormalities. For each syndrome, easy-to-use guide offers a complete description of clinical presentation, with illustrations, as well as information on behavioral aspects, life expectancy, diagnosis, and cytogenetics. Features of the text include: * A section devoted to the nomenclature of chromosome abnormalities * Pictorial material suitable to be shown to patient populations * Descriptions of the phenotype in tabular and text form for quick and easy reference * Ideograms for each entry * A list of key references
Genetics for Pulmonologists
The Molecular Genetics Basis of Pulmonary Disorders
Joel Moss , Jordan Prutkin
editore: ReMedica
pagine: 200
Our understanding of the relationship between genetics and pulmonary disorders is still evolving. In 1989 cloning of the gene that, when mutated, causes cystic fibrosis marked a great advance in the study of genetic diseases. Yet, over a decade later, understanding of how this genetic defect leads to colonization by bacteria and inflammation in the lung remains elusive. This publication provides an overview of lung diseases for which the genetic defect has been defined. It aims to provide an easy-to-use manual with concise reviews of genetic diseases that a pulmonologist might encounter.
Genetics for Ophthalmologists
The Molecular Genetic Basis of Ophthalmic Disorders
Graeme Black
editore: ReMedica
pagine: 368
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.
The Genetic Basis of Common Diseases
A. G. Motulsky
,
Jerome I. Rotter
e altri
editore: Oxford University Press Inc
pagine: 1096
Since the first edition of this highly acclaimed text was published in 1992, much new knowledge has been gained about the role of genetic factors in common adult disease, and we now have a better understanding of the molecular processes involved in genetic susceptibility and disease mechanisms. The Second Edition fully incorporates these advances. The entire book has been updated and twelve new chapters have been added. Most of these chapters deal with diseases such as gallstones, osteoporosis, osteoarthrits, skin cancer, other common skin diseases, prostate cancer and migraine headaches that are seen by all physicians. Others address the genetic and molecular basis of spondyloarthropathies, lupus, hemochromatosis, IgA deficiency, mental retardation, hearing loss, and the role of mitochondrial variation in adult diseases. Chapters on the evolution of human genetic disease and on animal models add important background on the complexities of these diseases. Unique clinical applications of genetics to common diseases are covered in additional new chapters on genetic counselling, pharmacogenetics, and the genetic consequences of modern therapeutics.
Mhc Protocols
R. Vaughan , SH Powis
editore: Humana Press Inc.
pagine: 340
The aim of MHC Protocols is to document protocols that can be used for the analysis of genetic variation within the human major histocompatibility complex (MHC; HLA region). The human MHC encompasses approximately 4 million base pairs on the short arm of chromosome 6 at cytogenetic location 6p21. 3. The region is divided into three subregions. The telomeric class I region contains the genes that encode the HLA class I molecules HLA-A, -B, and -C. The centromeric class II region contains the genes encoding the HLA class II molecules HLA-DR, -DQ, and -DP. In between is the class III region, originally identified because it contains genes encoding components of the complement pathway. The entire human MHC has recently been sequenced (1) and each subregion is now known to contain many other genes, a number of which have immunological functions. The study of polymorphism within the MHC is well established, because the region contains the highly polymorphic HLA genes. HLA polymorphism has been used extensively in solid organ and bone marrow transplantation to match donors and recipients.
As a result, large numbers of HLA alleles have been identified, a process that has been further driven by recent interest in HLA gene diversity in ethnic populations. The extreme genetic variation in HLA genes is believed to have been driven by the evolutionary response to infectious agents, but relatively few studies have analyzed associations between HLA genetic variation and infectious disease, which has been difficult to demonstrate.
Psychiatric Genetics
Methods and Reviews
Marion Leboyer
editore: Humana Press Inc.
pagine: 268
Psychiatric Genetics provides the reader with a complete view of the methodological problems encountered in psychiatry genetics and proposes solutions to commonly occurring questions. The best European and American specialists have given a thorough review on the advantages and disadvantages of genetic epidemiological methods, the way to choose a genetic marker or a clinical interview and how to ascertain patients, unaffected relatives and controls and what should be the criteria to include a case or a control. New phenotypic methods are described focusing on candidate symptom and endophenotype approaches. Examples coming from cognitive neurosciences, biochemistry, electrophysiology and brain imaging techniques are reviewed. This book will serve as an essential handbook for psychiatrists, psychologists, and geneticists involved in the genetics of psychiatric disorders.
Genetics for Oncologists
The Molecular Genetic Basis of Oncologic Disorders
Eli Hatchwell , Fiona Lalloo
editore: Taylor & Francis Ltd
pagine: 160
During the past decade enormous progress has been made in our understanding of the molecular genetic basis of many oncological disorders, and such information is already beginning to impact on clinical practice. This book provides oncologists with a concise summary of what is presently known about the genetic basis of monogenic and polygenic oncologic disorders. The glossary provides a thorough grounding in the fundamentals of genetic terminology and techniques. With its quick reference format, "Genetics for Oncologists" is designed for use by busy practitioners.
Genetics for Rheumatologists
The Molecular Genetic Basis of Rheumatic Disorders
Julia Newton
,
Matthew Brown
e altri
editore: ReMedica
pagine: 220
This work aims to provide a quick reference source for doctors written to help answer questions on genetics and rheumatology. A large proportion of the diseases seen by rheumatologists have genetic influences. Some diseases are monogenic, but many are without Mendelian patterns of inheritance, nonetheless still having strong hereditary influences. The dissection of the genetic basis of rheumatic diseases has moved rapidly over the past 15 years, increasing our understanding of the causation of the disease, and in many cases improving diagnostic tests and the ability to advise patients about their risk of disease. Increasingly rheumatologists are asked about the likelihood of offspring developing their parents' diseases and about the utility of genetic testing for those diseases. This book aims to provide some answers.
Genetics of Apoptosis
Stefan Grimm
editore: Bios Scientific Publishers Ltd
pagine: 328
Apoptosis is an essential process in embryonic development and tissue homeostasis, particularly in the prevention of disease. Written from a genetic viewpoint, Genetics of Apoptosis first describes the molecular and cell biology of apoptosis, then examines the process in more detail in several model systems. This volume brings together contributions from internationally renowned authors, and will be a valuable reference to all researchers studying apoptosis.
Prenatal Testing of Late Onset Neurogenetic Disease
Gerry Evers-Kiebooms
,
M. Zoetweij
e altri
editore: Bios Scientific Publishers Ltd
pagine: 220
This book addresses the biological, moral and legal issues which arising prenatal testing of late onset neurogenetic disease. The contributors focus specifically on Huntington's Disease, which is used as a model for other late onset neurogenetic diseases. The ethical and legal aspects of prenatal testing and preimplantation genetic diagnosis are discussed with reference to case histories. This volume will provide valuable insights for all those involved in dealing with these challenging issues.
Understanding Craniofacial Anomalies
The Etiopathogenesis of Craniosynostoses and Facial Clefting
Mark P. Mooney , Michael I. Siegel
editore: John Wiley & Sons Inc
pagine: 584
This comprehensive textbook, edited by world-renowned experts in the field, provides answers to challenges in the diagnosis and treatment of craniofacial anomalies.The book integrates basic science and clinical perspectives, creating a more unified and practical "patient centered" approach. Organized in a logical, easy-to-follow structure, this reference reviews and presents cutting-edge findings, covering the state of the art in craniosynostosis and facial clefting from molecular, genetic, cellular, tissue, organismic, and populations levels. Using standardized nomenclature and consistent terminology, Understanding Craniofacial Anomalies incorporates the recent explosion of growth in studying genetic and epigenetic etiologies of syndromes, thereby providing a unique and holistic review of this important topic.
Extracellular Matrix and The Liver
Approach to Gene Therapy
Isao Okazaki
,
Scott L. Friedman
e altri
editore: Academic Press Inc
pagine: 512
"Extracellular Matrix of the Liver" addresses the basic science of the extracellular matrix and discusses new strategies for the treatment of cirrhosis of the liver, with a primary focus on possible gene therapy approaches. The chapters are divided into six sections as follows: Basic Science of Extracellular Matrix; Cells Responsible for Extracellular Matrix Production; Activation Mechanism of Hepatic Cells and Signal Transduction; Basic Science for Extracellular Matrix Metabolism including Enzymes and their Inhibitors; Matrix Mettaloproteinases and Tissue Inhibitors for Matrix Mettaloproteinases; and New Strategies for the treatment of Liver Cirrhosis. Among its key features, this book: discusses the possibility of gene therapy for liver cirrhosis; includes information on new aspects of hepatic stellate cells; and is written by top experts in basic science and clinical hepatology.
Genetics for Orthopedic Surgeons
The Molecular Genetic Basis of Orthopedic Disorders
Eli Hatchwell , Ian Young
editore: ReMedica
pagine: 212
Molecular biology is one of the fastest growing areas of medical research and now impinges on almost every medical discipline. This work provides an up-to-date overview of developments in molecular genetics as they relate to orthopedic practice. A presentation of the fundamental attributes, radiographic findings, epidemiology, and inheritance patterns of common genetic skeletal diseases. These are organised clearly into three main sections: primary disorders of skeletal development; syndromes with skeletal involvement; and multifactorial disorders. This book aims to prove a useful reference which will be quickly and easily accessible.
I giudici davanti alla genetica. I corsi dell'Open Lab
Amedeo Santosuosso
,
C. Alberto Redi
e altri
editore: Ibis
pagine: 158
A dictionary of genetics.
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King, R. C. , Stansfield, W. D.
editore: Oxford University Press
pagine: 530
Adenoviral vectors for gene therapy.
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Curiel, D. , Douglas,J. T.
editore: Academic Press
pagine: 677
Bioinformatics from genomes to drugs
Methods and principles in medicinal chemistry, volume 14
Lengauer, T.
editore: Wiley & sons
pagine: 1368
DNA microarrays and gene expression
From experiments to data analysis and modeling
Baldi, P. , Hatfield, G. W.
editore: Cambridge
pagine: 213
