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Marschall S. Runge, MD, PhD, Cam Patterson, MD, and a panel of 251 authoritative contributors-many of them world-renowned clinicians and researchers-have now updated and expanded the much-acclaimed first edition of Principles of Molecular Medicine to provide an integrated survey of the basic principles of internal medicine in the light of recent dramatic discoveries in molecular medicine and new technologies for the diagnosis and treatment of human disease. This second edition contains new sections on genetics, oncology, metabolic diseases, and infectious diseases, in addition to fully revised sections on neurology, cardiology, hematology, nephrology, endocrinology, dermatology, immunology, gastroenterology, pulmonary disease, musculoskeletal medicine, and psychiatry. Here, the reader will discover the latest findings about direct links between genetic mutations and diseases, genomic approaches to a variety of diseases, and stem cell populations that regenerate muscle, heart, and neural cell populations. Other advances elucidated include the roles of bone morphogenetic proteins in pulmonary hypertension, mutations involved in an array of cardiomyopathies, and new understanding of the biology of previously untreatable neurodegenerative diseases, such as Huntington's disease. For this edition, the authors have also focused on producing a tightly written text with more useful figures and tables and reduced references, so that the text is more immediately useful but not overwhelming as a reference book. A CD-ROM edition of the book (ISBN: 1-58829-929-5) is available separately. Comprehensive and state-of-the-art, Principles of Molecular Medicine, Second Edition, offers practicing physicians, researchers, and residents an extraordinary summary of the rapidly emerging molecular mechanisms underlying disease and valuable insights into the nature and direction of future developments.
Medical genetics --- Pathology, Molecular --- Molecular biology --- Genetics, Medical --- Genetic Therapy --- Molecular Biology
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Molecular Genetic Pathology presents up-to-date material containing fundamental information relevant to the clinical practice of molecular genetic pathology. Part I examines the clinical areas of molecular biology, genomics, pharmacogenomics and proteomics, while Part II covers the molecular areas of medical genetics, microbiology, hematology, transfusion medicine, oncology and forensic pathology. The volume provides a unique reference for the practicing pathologist and medical geneticist as well as a review book for residents and fellows in training in pathology, medical genetics and molecular genetic pathology.
Medicine & Public Health. --- Pathology. --- Human Genetics. --- Molecular Medicine. --- Medicine. --- Human genetics. --- Médecine --- Génétique humaine --- Pathologie --- Anatomy, Pathological. --- Diagnosis, Differential. --- Pathology, Surgical -- Methods. --- Pathology, Surgical. --- Physiology, Pathological. --- Medical genetics --- Genetic disorders --- Molecular genetics --- Genetics --- Biochemistry --- Pathology --- Pathology, Clinical --- Molecular Biology --- Biology --- Medicine --- Chemistry --- Biological Science Disciplines --- Health Occupations --- Natural Science Disciplines --- Disciplines and Occupations --- Health & Biological Sciences --- Diagnosis --- Medical genetics. --- Molecular genetics. --- Diagnosis. --- Genetic diagnosis --- Clinical genetics --- Diseases --- Heredity of disease --- Genetic aspects --- Molecular biology. --- Molecular biology --- Human genetics --- Medical sciences --- Clinical sciences --- Medical profession --- Human biology --- Life sciences --- Physicians --- Heredity, Human --- Physical anthropology --- Disease (Pathology) --- Medicine, Preventive --- Health Workforce --- Molecular biochemistry --- Molecular biophysics --- Biophysics --- Biomolecules --- Systems biology
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Er gaat vrijwel geen dag voorbij zonder dat er sprake is van nieuwe ontdekkingen op het gebied van de erfelijkheid. Ook het gebruik van technieken die gebaseerd zijn op de kennis van de erfelijke code neemt hand over hand toe. Denk aan de genetische vingerafdrukken die steeds vaker gebruikt worden bij het opsporen van potentiële daders, het vroegtijdig diagnosticeren van mogelijke afwijkingen of zelfs het corrigeren ervan door gebruikmaking van genetische manipulatietechnieken.Om al die redenen is een basiskennis van hoe de erfelijkheid werkt en hoe ze aangewend kan worden een vereiste om mee te kunnen denken en te beslissen in de hedendaagse samenleving.Dat is wat dit boek beoogt te brengen. Onze genen zet de huidige kennis over de menselijke erfelijkheid helder uiteen. Alle belangrijke thema's komen erin aan bod: zowel de elementaire inzichten betreffende de bouw van het erfelijke materiaal en de manier waarop het omgezet wordt in lichaamseigenschappen, als recentere informatie over het ontstaan van specifieke afwijkingen, de mogelijkheden en beperkingen van erfelijkheidsdiagnose en van stamcel- en gentherapie, tot en met de nieuwe ontwikkelingen binnen het domein van de epigenetica. Voorts wordt ook aandacht besteed aan enkele aanverwante thema's, zoals het ontstaan van kanker en de gedragsgenetica.Het boek richt zich in de eerste plaats tot studenten binnen de paramedische en de psychosociale en pedagogische opleidingen. Maar doordat de tekst zo is opgesteld dat er geen specifieke voorkennis vereist wordt, kunnen ook andere geïnteresseerden er heel wat nuttige inzichten uit halen.
erfelijkheidsvoorlichting --- Human genetics --- genen --- prenatale zorg --- genetische manipulatie --- Molecular biology --- medische genetica --- erfelijkheid --- aangeboren afwijkingen --- Genetica --- Genetics --- Handbooks, manuals, etc. --- Medical genetics --- Genes --- Heredity --- PXL-Healthcare 2015 --- erfelijkheidsleer --- 575.1 --- 612.6 --- 600.2 --- voortplanting --- Erfelijkheid (genetica) --- menskunde --- 575.1 Heredity. Inheritance --- Heredity. Inheritance --- Voortplanting. Groei. Ontwikkeling --- Erfelijkheid. Overerving --- Erfelijkheidsleer --- erfelijkheidsleer - mens --- Genetisch advies --- Genetische manipulatie --- Genetisch risico --- genetica --- Provincie West-Vlaanderen
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Cytogenetics is a very important research tool in basic and applied research. The uses of cytogenetics in human-population monitoring, in biological dosimetry in radiation accidents and in astronauts and as a predictive measure of cancer are topics discussed in this book. The book will help the reader to better understand cytogenetics and the intricacies of the methodology. The different methods of fluorescence in situ hybridization are discussed and the results achieved are presented. The book provides a comprehensive review of basic and applied aspects of cytogenetics and therefore will be of interest to all who are interested in chromosomes and their alterations by different types of mutagens, including chemical mutagens and ionizing and nonionizing radiation, with special reference to electromagnetic fields.
proteomics --- Genetics --- histologie --- Animal genetics. Animal evolution --- Histology. Cytology --- Oncology. Neoplasms --- proteïnen --- genetica --- oncologie --- cytologie --- Human chromosome abnormalities --- Medical genetics --- Chromosome Aberrations --- Chromosome Disorders --- Abnormalities, Autosome --- Abnormalities, Chromosomal --- Abnormalities, Chromosome --- Chromosomal Aberrations --- Chromosome Abnormalities --- Cytogenetic Abnormalities --- Autosome Abnormalities --- Cytogenetic Aberrations --- Aberration, Chromosomal --- Aberration, Chromosome --- Aberration, Cytogenetic --- Aberrations, Chromosomal --- Aberrations, Chromosome --- Aberrations, Cytogenetic --- Abnormalities, Cytogenetic --- Abnormality, Autosome --- Abnormality, Chromosomal --- Abnormality, Chromosome --- Abnormality, Cytogenetic --- Autosome Abnormality --- Chromosomal Aberration --- Chromosomal Abnormalities --- Chromosomal Abnormality --- Chromosome Aberration --- Chromosome Abnormality --- Cytogenetic Aberration --- Cytogenetic Abnormality --- Chromosomes --- Cytogenetics --- Genetics, Medical --- Cytogenetic Analysis --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic disorders --- Human chromosomes --- Chromosome abnormalities --- etiology --- abnormalities --- Genetic aspects --- Abnormalities
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In 1953 werd door Watson en Crick de structuur van het DNA blootgelegd: dit gaf inzicht in de wijze waarop de erfelijke eigenschappen van een organisme worden 'gecodeerd' en bij elke celdeling doorgegeven. Omstreeks 1975 werd het mogelijk om DNA te 'manipuleren'. De stukjes DNA die een welbepaalde eigenschap tot stand brengen, en die men genen noemt, kan men nu isoleren, identificeren en reproduceren (klonen). In verband met de mens leidt dit samen met andere technieken tot de mogelijkheid om de oorsprong van een groot aantal erfelijke ziekten op te sporen. Door onderzoek van enkele cellen kan men de aanwezigheid van een erfelijke aanleg vaststellen zowel bij de volwassene, het kind, de foetus als bij het embryo. Deze kennis kan heel waardevol zijn, maar ze kan ook ongewenste tot zelfs dramatische gevolgen hebben. Dit boek geeft een inzicht in de mogelijkheden van dit genetisch onderzoek. Tegelijk worden ook de voornaamste ethische vragen gesteld die erdoor worden opgeroepen. (Bron: covertekst)
Human genetics --- Professional ethics. Deontology --- Human medicine --- Erfelijkheidsleer --- Ethique médicale --- Hérédité --- Medische ethiek --- Genetisch onderzoek ; ethiek --- Genetisch onderzoek ; sociale aspecten --- genetica --- erfelijke ziekten --- bio-ethiek --- 174.2 --- 17.023.33 --- 575 --- 061 Ethische problemen --- 094 Biologie --- Erfelijkheid --- Genetica --- 600.2 --- 603.1 --- aangeboren afwijkingen --- erfelijkheidsleer --- ethiek --- genetische diagnose --- genetische test --- maatschappij --- recht --- screening --- 599.2 --- aangeboren afwijkingen (congenitale afwijkingen, hartafwijkingen) --- ethiek (moraal) --- genetisch risico --- prenatale diagnose --- tests --- 010213.jpg --- 61 --- 179.7 --- Beroepsmoraal van de artsen. Medische beroepsethiek --- Génétique --- (zie ook: orthopedie, seksuele ontwikkelingsstoornissen, vaatziekten) --- (zie ook: genetisch advies) --- Conferences - Meetings --- Medical genetics --- Genetic Techniques --- Genetic Counseling --- Genetic Screening --- Moral and ethical aspects --- 174.2 Beroepsmoraal van de artsen. Medische beroepsethiek --- Clinical genetics --- Diseases --- Heredity of disease --- Medical sciences --- Pathology --- Genetic disorders --- Genetic aspects --- Hérédité --- Génétique --- Ethique médicale
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Early detection of colorectal cancers is a significant and relatively recent achievement. Persons who carry genetic mutations linked to hereditary colorectal cancer make up 20% of the patient population. With the advent of molecular genetics and the description of hereditary colorectal cancer syndromes, clinicians and genetic counselors are able to use genetic predisposition testing as an effective and important way to identify patients and families affected by inherited colorectal cancer syndromes. Hereditary Colorectal Cancer is a comprehensive collection that documents not only Familial Adenomatous Polyposis and the Lynch syndrome, but also less understood syndromes, including the Hamartomatous Polyposis Syndromes and MutYH Associated Polyposis. Internationally recognized clinicians and researchers further delve into the evolution and potential of syndromes, genes and molecular alterations that have yet to be defined. Instrumental experts in this field of discovery were carefully selected by the section editors to create this premier reference work for clinicians, scientists and researchers confronted with the treatment and management of hereditary colorectal cancer.
Medicine & Public Health. --- Oncology. --- Surgical Oncology. --- Gastroenterology. --- Medicine. --- Cancer --- Médecine --- Gastroentérologie --- Cancérologie --- Surgery. --- Chirurgie --- Colon (Anatomy) --- Genetic disorders. --- Rectum --- Colorectal Neoplasms --- Adenomatous Polyposis Coli. --- Colorectal Neoplasms, Hereditary Nonpolyposis. --- Genetic Counseling. --- Genetic aspects. --- genetics. --- Colon (Anatomy) -- Cancer. --- Rectum -- Cancer. --- Genetic disorders --- Neoplastic Syndromes, Hereditary --- Intestinal Neoplasms --- Colonic Neoplasms --- Rectal Diseases --- Adenomatous Polyps --- Biology --- Intestinal Polyposis --- Genetic Services --- Colonic Diseases --- DNA Repair-Deficiency Disorders --- Genetics, Medical --- Intestinal Diseases --- Metabolic Diseases --- Gastrointestinal Neoplasms --- Health Services --- Adenoma --- Neoplasms --- Genetic Diseases, Inborn --- Biological Science Disciplines --- Adenomatous Polyposis Coli --- Colorectal Neoplasms, Hereditary Nonpolyposis --- Genetic Counseling --- Genetics --- Neoplasms, Glandular and Epithelial --- Gastrointestinal Diseases --- Digestive System Neoplasms --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Diseases --- Health Care Facilities, Manpower, and Services --- Nutritional and Metabolic Diseases --- Natural Science Disciplines --- Digestive System Diseases --- Neoplasms by Histologic Type --- Health Care --- Neoplasms by Site --- Disciplines and Occupations --- History & Archaeology --- Medicine --- Health & Biological Sciences --- Oncology --- History - General --- Genetic aspects --- Cancer. --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- Colorectal cancer --- Rectal cancer --- Colon cancer --- Surgical oncology. --- Medical genetics --- Oncology . --- Oncologic surgery --- Oncological surgery --- Surgical oncology --- Tumors --- Internal medicine --- Digestive organs --- Excision --- Treatment --- Gastroenterology .
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