Libri Malattie genetiche: Novità e Ultime Uscite | P. 3
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Malattie genetiche

Nonviral Vectors for Gene Therapy

Ernst Wagner, Leaf Huang
e altri

editore: Academic Press Inc

pagine: 400

The field of non-viral vector research has rapidly progressed since the publication of the first edition. This new edition is expanded to two separate volumes that contain in-depth discussions of different non-viral approaches, including cationic liposomes and polymers, naked DNA and various physical methods of delivery, as well as a comprehensive coverage of the molecular biological designs of the plasmid DNA for reduced toxicity, prolonged expression and tissue or disease specific genes. New developments such as the toxicity of the non-viral vectors and recent advances in nucleic acid therapeutics are fully covered in these volumes.
146,00 138,70

An Introduction to Human Molecular Genetics

Mechanisms of Inherited Diseases

Jack J. Pasternak

editore: John Wiley & Sons Inc

pagine: 656

This is an "Introduction to Human Molecular Genetics Second Edition" by Jack J. Pasternak. The Second Edition of this internationally acclaimed text expands its coverage of the molecular genetics of inherited human diseases with the latest research findings and discoveries. Using a unique, systems-based approach, the text offers readers a thorough explanation of the gene discovery process and how defective genes are linked to inherited disease states in major organ and tissue systems. All the latest developments in functional genomics, proteomics, and microarray technology have been thoroughly incorporated into the text. The first part of the text introduces readers to the fundamentals of cytogenetics and Mendelian genetics. Next, techniques and strategies for gene manipulation, mapping, and isolation are examined. Readers will particularly appreciate the text's exceptionally thorough and clear explanation of genetic mapping. The final part features unique coverage of the molecular genetics of distinct biological systems, covering muscle, neurological, eye, cancer, and mitochondrial disorders. Throughout the text, helpful figures and diagrams illustrate and clarify complex material. Readers familiar with the first edition will recognize the text's same lucid and engaging style, and will find a wealth of new and expanded material that brings them fully up to date with a current understanding of the field, including: New chapters on complex genetic disorders, genomic imprinting, and human population genetics. It includes an expanded and fully revised section on clinical genetics, covering diagnostic testing, molecular screening, and various treatments. This text is targeted at upper-level undergraduate students, graduate students, and medical students. It is also an excellent reference for researchers and physicians who need a clinically relevant reference for the molecular genetics of inherited human diseases.
92,00 87,40


A Clinical Guide to Genetic Skin Disorders

Spitz, J. L.

editore: Lippincott Williams & Wilkins

pagine: 400

Suitable for dermatologists, paediatricians, and family physicians, this guide provides information on genetic skin disorders. It features bulleted text summarizing the patterns of inheritance, prenatal diagnosis, incidence, age of presentation, pathogenesis, features, differential diagnosis, laboratory findings, management, and prognosis.
136,00 129,20

Genetics for Pediatricians

The Molecular Genetic Basis of Pediatric Disorders

Ian Young, Mohnish Suri

editore: ReMedica

pagine: 250

Genetic testing now plays an important role in the investigation of almost every child who is presented with one of the many commonly inherited disorders that make a major contribution to pediatric morbidity and mortality throughout the world. It can be difficult for even the most conscientious practitioner to keep abreast of developments and to appreciate both the significance and relevance of some of the major discoveries of recent years. The number of conditions that have been mapped or in which the causative gene has been isolated is vast. This book restricts coverage to the more common single-gene disorders that are likely to be encountered in general pediatric practice, with particular attention focused on those in which molecular analysis can play an important role in the diagnosis or management of a child and his or her family.
35,00 33,25

Hereditary Hearing Loss and Its Syndromes

Helga V. Toriello, Robert J. Gorlin
e altri

editore: Oxford University Press Inc

pagine: 524

Genetic deafness affects 1 in 1000 children, and over the last decade several dozen of the responsible genes have been identified. This unique textbook aims to assist clinicians dealing with deaf patients and families by critically reviewing all relevant published material on genetics, pathology, clinical presentation, diagnosis, and laboratory findings. Thoroughly revised, the Second Edition has been updated throughout and includes a new chapter on hearing loss with cardiovascular disorders. It continues with the successful formula of presenting separate chapters on deafness associated with findings in specific body systems. Careful attention to cross referencing between chapters means that the multifaceted clinical presentations of distinct conditions are highlighted. These clinical variations are complemented by excellent clinical photographs, audiograms, figures from essential laboratory or other investigations, and comprehensive reference lists. Gene mutations that cause deafness are highlighted throughout the text, both in chapters dealing with syndromes and in a vastly expanded chapter focusing specifically on nonsyndromic forms of deafness. Thus, the new edition reflects all the progress on the molecular understanding of deafness made in recent years and integrates these findings into clinical practice. It also makes an important contribution to the cataloguing of new syndromes that have emerged in recent years, such as HIDS and X-linked maxillofacial dysostosis.
170,00 161,50
150,00 142,50

The Molecular and Genetic Basis of Neurologic and Psychiatric Disease

Eric J. Nestler, Robert L. Barchi
e altri

editore: Butterworth-Heinemann Ltd

pagine: 890

110 of the world's foremost authorities explore the latest advances in molecular and cellular neurobiology and molecular neurogenetics and their implications for the development of pharmacologic or gene therapy for patients with genetic diseases of the nervous system. The 3rd Edition features a new section on psychiatric diseases, 26 additional new chapters, and an even stronger clinical focus, offering practical guidance on a full range of diseases and the roles that molecular biology and genetics play in their diagnosis and management. It includes the latest advances in molecular research.
178,00 169,10

Hormones, Genes and Cancer

B. A. J. Ponder, Brian E. Henderson
e altri

editore: Oxford University Press Inc

pagine: 464

Hormonal carcinogenesis is an important and controversial area of research. In addition to accelerating existing cancers, can hormones play the role of primary carcinogens? And how do genetic factors influence hormone-related cancer risk? This work addresses these questions. During the last few decades of the 20th century, cancer research focused on external environmental causes (for example, tobacco smoke, viruses, asbestos). With the advent of genetic sequencing techniques, we are just now beginning to understand how the body's internal environment (that is, the hormones and growth factors that determine normal development) influences cancer etiology and prevention. From molecular insights to clinical analyses, this volume provides state-of-the-art information on the complex interactions between hormones and genes and cancer. The epidemiology and molecular endocrinology of prostate, breast, uterine, ovarian and testicular cancer are detailed in this timely treatise.
96,00 91,20

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
122,00 115,90

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.
170,00 161,50

Genomic imprinting and uniparental disomy in medicine

Clinical and molecular aspects

Engel, E. , Antonarakis, S. E.

editore: Wiley & sons

pagine: 284

96,00 91,20

Catalogue of unbalanced chromosome aberrations in man


Schinzel, A.

editore: De Gruyter

pagine: 966

This text presents a comprehensive and updated catalogue of the already large, and rapidly growing number of chromosome aberrations in man. The consistent structure of the text and references provide for rapid orientation.
309,87 294,38

Medicina genetica. Una logica della malattia

Barton Childs

editore: Giovanni Fioriti Editore

pagine: 365

La ricerca in biologia e alcune trasformazioni sociali hanno reso evidente che il pensiero medico tradizionale non è più adeguato; sono necessarie nuove idee. Un insieme di idee concerne i modi in cui le cure mediche sono rese disponibili e pagate. Un altro ha a che fare con l'adattamento delle nuove procedure e delle nuove possibilità di intervento in medicina con le norme etiche e sociali. Ancora, un altro insieme di idee riguarda la maniera di andare incontro e accomodarsi al carattere individuale della malattia. Questo libro riguarda principalmente la maniera in cui tali idee dovrebbero influenzare la formazione in medicina.

Genetica molecolare umana

Tom Strachan, Andrew P. Read

editore: Zanichelli

pagine: 896

La sequenza "finita" del genoma umano è stata pubblicata nel 2004 e da allora siamo entrati in un'era in cui ogni anno viene p
100,00 95,00


Enzo Gallori

editore: Giunti Editore

pagine: 128

Gli Atlanti Scientifici Giunti sono divenuti ormai un tradizionale punto di riferimento per gli studenti superiori e universitari nella rapida ricerca di informazioni. I testi, accuratamente rivisti e aggiornati, riassumono lo stato dell'arte di numerose discipline scientifiche in modo accessibile a tutti: suddivisi in schede commentate da una serie di accurate immagini funzionali, permettono di trovare con facilità gli argomenti d'interesse, con una rapida consultazione tematica. Glossari essenziali e tavole riassuntive di vario genere facilitano la comprensione dell'argomento. Il prezzo, drasticamente contenuto, li rende interessanti per tutti.

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