Genetica medica. Concorso per le Specializzazioni di Area Sanitaria non medica
Raccolta di quesiti per la preparazione al concorso per l'accesso alle Scuole di specializzazione di area non medica in Patolo
Genetics and Genomics in Medicine
Tom Strachan, Anneke Lucassen
editore: CRC Press
The second edition of this textbook written for undergraduate students, graduate students and medical researchers, Genetics and Genomics in Medicine explains the science behind the uses of genetics and genomics in medicine today, and how it is being applied.Maintaining the features that made the first edition so popular, this second edition has been thoroughly updated in line with the latest developments in the field. DNA technologies are explained, with emphasis on the modern techniques that are revolutionizing the use of genetic information in medicine and indicating the role of genetics in common diseases. Epigenetics and non-coding RNA are covered in-depth as are genetic approaches to treatment and prevention, including pharmacogenomics, genetic testing, and personalized medicine. A dedicated chapter charts the latest insights into the molecular basis of cancers, cancer genomics and novel approaches to cancer detection. Coverage of genetic testing at the level of genes, chromosomes and genomes has been significantly expanded and updated. Extra prominence has been given to additional genomic analyses, ethical aspects, and novel therapeutic approaches. Various case studies illustrate selected clinical applications.Key Features Comprehensive and integrated account of how genetics and genomics affect the entire spectrum of human health and disease Exquisite artwork illuminates the key concepts and mechanisms Summary points at the end of each chapter help to consolidate learning For each chapter, an abundance of further reading to help provide the reader with direction for further study Inclusive online question bank to test understanding Standard boxes summarizing certain key principles in genetics Clinical boxes summarizing selected case studies, pathogenesis mechanisms or novel therapies for selected diseases This book is equally suited for newcomers to the field as well as for engineers and scientists that have basic knowledge in this field but are interested in obtaining more information about specific future applications.
Bruno Dallapiccola, Giuseppe Novelli
editore: Edizioni Scientifiche Falco
A10 anni di distanza dalla pubblicazione della terza edizione del libro, abbiamo accolto le sollecitazioni dei colleghi, degli amici e, soprattutto, di molti studenti, di aggiornare i contenuti del nostro trattato di Genetica Medica. Lo abbiamo fatto seguendo i criteri di essenzialità e rigore, richiesti dai programmi e dai requisiti didattici del Corso di Laurea Magistrale in Medicina e Chirurgia, dei Corsi di Laurea e Laurea Magistrale relativi alle Professioni Sanitarie e delle Scuole di Specializzazione dell’Area Sanitaria. Questo nuovo testo, significativamente rinnovato nei contenuti e nelle immagini, è stato pensato e sviluppato seguendo l’idea che aveva decretato il successo delle precedenti edizioni, quella di raccontare le nozioni fondamentali della nostra disciplina utilizzando un linguaggio semplice ma rigoroso, capace di raggiungere il lettore, per fornirgli gli strumenti necessari a comprendere la Genetica Medica moderna e il suo impatto sulla salute dell’uomo. Una formula a lungo sperimentata sul campo, elemento fondativo del nostro modo di considerare la didattica universitaria.
Smith's Recognizable Patterns of Human Malformation
Kenneth Lyons Jones, Marilyn Crandall Jonese altri
editore: Elsevier - Health Sciences Division
Long known as the go-to resource for superbly illustrated, up-to-date coverage in this complex field, Smith's Recognizable Patterns of Human Malformation, 8th Edition, provides a wealth of information on malformation syndromes of environmental and genetic etiology, recognizable disorders of unknown cause, clinical approaches to specific diagnoses, and normal standards of measurement for the entire spectrum of disorders. This award-winning reference is indispensable for clinicians in pediatrics, neonatology, family medicine, and genetics, as well as nurse practitioners and physician assistants-anyone who needs a complete, authoritative, and easy-to-read guide to help accurately diagnose human disorders, establish prognoses, and provide appropriate management and genetic counseling. Includes an easy-to-read description of each condition: Common and occasional abnormalities, natural history, etiology, and references. Opposing pages contain descriptive photographs and line drawings of either an individual with the abnormality or specific features of the abnormality. Contains new coverage of Hennekam Syndrome, Parkes Weber Syndrome, KBG Syndrome, Kosaki Overgrowth, Malan Syndrome, and much more. Arranges disorders based on similarity in overall features, so you can easily navigate to the correct section and compare/contrast similar disorders. Features more than 1,500 full-color photographs and illustrations, many from the personal collections of Drs. Smith and Jones, and others from multiple international collaborators. Provides summarized information in order to understand basic mechanisms of morphogenesis and birth defects and key concepts in genetics and genetic testing-necessary information for counseling patients and parents. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
Emery's Elements of Medical Genetics and Genomics
Peter D Turnpenny, Sian Ellarde altri
editore: Elsevier Health Sciences
Long recognized as a leading textbook in this fast-moving field, Emery's Elements of Medical Genetics and Genomics offers current, complete information with a strong basis in practical clinical genetics and genomics for medical school and beyond. The 16th Edition of this award-winning text has been thoroughly updated throughout and includes case-based and multiple-choice questions, end-of-chapter summaries, an extensive glossary, and convenient online access, making it an ideal choice for all medical undergraduates as well as postgraduates seeking to improve their understanding and knowledge. Includes new case-based studies with questions and answers throughout, in addition to multiple-choice self-assessment questions for study and review. Covers key topics such as pharmacogenetics, personalized medicine, prenatal testing, reproductive genetics, and ethical and legal issues in medical genetics. Divides the text into three easy-to-use sections: The Scientific Basis of Human Genetics, Genetics in Medicine and Genomic Medicine, and Clinical Genetics, Counseling and Ethics Features full-color illustrations and other images that help readers visualize the appearance of genetic disorders and assist with the understanding of complex genetic structures. Contains learning features such as summary boxes, an extensive glossary of terms, online hyperlinks to important genetics websites and clinical databases, and more. Presents the extensive knowledge and experience of distinguished editors Peter D. Turnpenny and Sian Ellard, as well as new editor Ruth Cleaver. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
Genetica molecolare umana
Tom Strachan, Andrew P. Read
I progressi nell'ambito della genetica molecolare umana sono stati moltissimi nell'ultimo decennio, ma non ci sono dubbi su qu
Genetica. Principi di analisi formale
Anthony J. F. Griffiths, John Doebleye altri
Genetica. Quesiti e soluzioni
Silvia Ghirotto, Maria Teresa Vizzari
editore: UTET Università
La genetica ha un ruolo centrale nella biologia
La medicina delle reti. Una nuova visione sistemica della malattia e della cura
Joseph Loscalzo, Edwin K. Silvermane altri
editore: Aboca Edizioni
Davanti a noi c'è una nuova frontiera della medicina
Elementi di genetica medica
Il volume presenta in maniera essenziale e concisa gli aspetti fondamentali della genetica medica, illustrando i meccanismi al
Lynn B. Jorde, John C. Careye altri
editore: Elsevier - Health Sciences Division
Up to date and extensively revised to reflect recent advances in the genetics of common diseases, as well as current progress in gene therapy, Medical Genetics, 6th Edition, delivers easy-to-read, highly visual coverage of this rapidly changing field. This accessible, practical text integrates key concepts with clinical practice, highlighted by numerous illustrations, tables, concept summaries, and more - all designed to enhance effective learning and retention of complex material. Discusses current topics including polygenic risk scores and their potential applications for diabetes, cancer, and heart disease, and the latest sequencing technologies and their clinical application in genetic testing and diagnosis. Offers a completely updated discussion of genetic testing modalities and applications. Includes convenient concept summaries, more than 230 photographs, illustrations, and tables, as well as patient/family vignettes that present valuable perspectives on disease and treatment. Features Clinical Commentary boxes that demonstrate how the hard science of genetics has real applications to everyday patient problems, preparing you for problem-based integrated courses. Illustrates key concepts with disease examples to demonstrate relevance to medicine. Provides study questions for self-assessment, as well as 200 additional USMLE-style questions online. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
Harper's Practical Genetic Counselling
Easy to use, and useful when kept close at hand in the room where you work. The book is a pleasure to read: the style elegant and authoritative.' Lancet'...this book is a wonderful reference to enable primary physicians to be informed about their patients.' Annals of Internal MedicineUniversally used across the world by genetic counsellors, medical geneticists and clinicians alike, Harper's Practical Genetic Counselling has established itself as the essential guide to counselling those at risk from inherited disorders.Increasingly, common disorders are known to have a genetic component and this book provides invaluable and up to date guidance through the profusion of new information in this area and the associated psychosocial and ethical considerations and concerns.Within its established, tried and trusted framework, the book contains new chapters on: laboratory methods, new genetic sequencing techniques and the applications of genome-wide SNP association studies, genetic susceptibility, cross cultural aspects and the genetic counselling process. It has expand chapters on genetic screening and screening of newborn, treatment techniques and rational approaches to treatment, non-Mendelian inheritance, free fetal DNA in prenatal screening and diagnosis.Key features:- Fully updated to provide the very latest information when in a busy consulting room or clinic- Clear and authoritative advice applicable to everyday clinical practice- Reflects the rapid development of knowledge in this area, including the implications of the human genome project and related technologyThe eighth edition of this popular, best selling text continues to be an essential source of reference for trainee and practitioner genetic counsellors, medical geneticists and clinicians. Also it provides valuable background for specialist nurses, counsellors, social scientists, ethicists as well as genetics laboratory staff.
Genetica. Un approccio molecolare. Ediz. MyLab.
Peter J. Russell
L'attività didattica e di apprendimento del corso è proposta all'interno di un ambiente digitale per lo studio, che ha l'obiet
Nei segreti di un moscerino il futuro genetico dell'uomo
Urania E. Lagrasta, Mario Lagrastae altri
editore: Minerva Medica
Elementi di biologia e genetica
Il volume, rivolto in particolar modo agli studenti dei corsi di laurea in Scienze infermieristiche, fornisce una visione glob
BRS Biochemistry, Molecular Biology, and Genetics
Michael A. Lieberman, Rick Ricer
editore: Lippincott Williams and Wilkins
Practical, approachable, and perfect for today's busy medical students and practitioners, BRS Biochemistry, Molecular Biology, and Genetics, Seventh Edition helps ensure excellence in class exams and on the USMLE Step 1. The popular Board Review Series outline format keeps content succinct and accessible for the most efficient review, accompanied by bolded key terms, detailed figures, quick-reference tables, and other aids that highlight important concepts and reinforce understanding. This revised edition is updated to reflect the latest perspectives in biochemistry, molecular biology, and genetics, with a clinical emphasis essential to success in practice. New Clinical Correlation boxes detail the real-world application of chapter concepts, and updated USMLE-style questions with answers test retention and enhance preparation for board exams and beyond. Updated content keeps students current with the latest clinical approaches to molecular biology, genetics, amino acids, and more. The proven Board Review Series outline format helps students make the most of their study time. Updated Clinical Considerations boxes demonstrate the practical applications of chapter concepts. More than 500 USMLE-style review questions ensure confidence on course exams and the USMLE Step 1. More than 250 high-quality images clarify concepts and clinical details. Chapter overviews, tables, algorithms, and other learning aids save time and simplify the review process. eBook available for purchase. Fast, smart, and convenient, today's eBooks can transform learning. These interactive, fully searchable tools offer 24/7 access on multiple devices, the ability to highlight and share notes, and more
The Human Genome in Health and Disease
A Story of Four Letters
editore: CRC Press Inc
The human genome is a linear sequence of roughly 3 billion bases and information regarding this genome is accumulating at an astonishing rate. Inspired by these advances, The Human Genome in Health and Disease: A Story of Four Letters explores the intimate link between sequence information and biological function. A range of sequence-based functional units of the genome are discussed and illustrated with inherited disorders and cancer. In addition, the book considers valuable medical applications related to human genome sequencing, such as gene therapy methods and the identification of causative mutations in rare genetic disorders. The primary audiences of the book are students of genetics, biology, medicine, molecular biology and bioinformatics. Richly illustrated with review questions provided for each chapter, the book helps students without previous studies of genetics and molecular biology. It may also be of benefit for advanced non-academics, which in the era of personal genomics, want to learn more about their genome. Key selling features: Molecular sequence perspective, explaining the relationship between DNA sequence motifs and biological function Aids in understanding the functional impact of mutations and genetic variants Material presented at basic level, making it accessible to students without previous studies of genetics and molecular biology Richly illustrated with questions provided to each chapter