Genetics For Pediatricians PDF Download
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Author | : American Academy of Pediatrics |
Publisher | : |
Total Pages | : 0 |
Release | : 2013 |
Genre | : Genetic screening |
ISBN | : 9781581104967 |
Download Medical Genetics in Pediatric Practice Book in PDF, ePub and Kindle
Embodying current Policy of the American Academy of Pediatrics (AAP), this all-new resource provides practice-focused help for addressing virtually any genetics-related issue you're likely to confront. It's replete with expert insights, pediatric-specific solutions, and quick-access aids you won't find anywhere else. Consult this one-stop problem-solver for: - Must-know basics on genetic processes, inheritance patterns, and genetic testing - Concise summaries of common genetic disorders - Recognition, evaluation, diagnosis, and treatment how-to's - Illuminating images of anomalies that may indicate genetic conditions - Case-based examples of ethical issues Here's the how, why, where, and when of pediatric genetic care: - How to recognize diverse genetic disorders - How to take a complete genetic history - How to spot at-risk patients - Why to create a pedigree - When to consider a genetic evaluation - How to conduct genetic screening and testing - How to identify appropriate therapeutic approaches - Where to find critical resources - When to refer to a geneticist - And much more
Author | : Mohnish Suri |
Publisher | : Remedica |
Total Pages | : 322 |
Release | : 2005 |
Genre | : Medical |
ISBN | : 1901346633 |
Download Genetics for Pediatricians Book in PDF, ePub and Kindle
Annotation Pediatricians, medical geneticists, genetics counselors. Genetic testing now plays an important role in the investigation of almost every child who presents 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. In this book, coverage has been restricted 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.
Author | : Christine M. Houser |
Publisher | : Springer Science & Business Media |
Total Pages | : 156 |
Release | : 2014-04-12 |
Genre | : Medical |
ISBN | : 1493905813 |
Download Pediatric Genetics and Inborn Errors of Metabolism Book in PDF, ePub and Kindle
Often, information in review books can raise as many questions as it answers. This interferes with the study process, because the learner must either look up additional information or skip ahead without truly comprehending what he or she has read. As an alternative, Pediatric Genetics and Inborn Errors of Metabolism: A Practically Painless Review presents bite-size chunks of information that can be read and processed rapidly, helping learners to stay active while studying and to pick up new information the first time they read it. This book's question and answer format allows for self-testing or study with a partner or a group. The format also facilitates dipping into the book during a few minutes of downtime at the hospital or office. Pediatric Genetics and Inborn Errors of Metabolism: A Practically Painless Review is a quick and easy way to master these tricky topics and is suitable for those studying for the pediatric board exam, practicing physicians brushing up their skills and any busy clinician who wants to learn more about these topics while on the go.
Author | : Nathaniel H. Robin |
Publisher | : Elsevier Health Sciences |
Total Pages | : 350 |
Release | : 2017-08-22 |
Genre | : Medical |
ISBN | : 0323495966 |
Download Pediatric Cancer Genetics Book in PDF, ePub and Kindle
Get a quick, expert overview of the many key facets of pediatric cancer genetics with this concise, practical resource by Dr. Nathaniel H. Robin and Meagan Farmer, MS, CGC, MBA. Ideal for pediatric oncologists and all providers who care for children, this easy-to-read reference addresses the remarkable potential of genetic testing as well as the complexities of choosing the correct test, understanding the results, and counseling the family. Features a wealth of information on pediatric cancer genetics, including the epidemiology and biology of cancer and the genetic evaluation process and role of genetic counselors. Highlights examples of syndromes that present in childhood and increase susceptibility to cancer. Discusses the genetic evaluation process in context of the multidisciplinary care of children with cancer. Considers the ethical and legal issues of genetic testing in children and provides illustrative case examples. Consolidates today’s available information and guidance in this timely area into one convenient resource.
Author | : June K. Lloyd |
Publisher | : Butterworth-Heinemann |
Total Pages | : 335 |
Release | : 2014-04-24 |
Genre | : Medical |
ISBN | : 1483161013 |
Download Genetic and Metabolic Disease in Pediatrics Book in PDF, ePub and Kindle
Genetic and Metabolic Disease in Pediatrics is a compendium of papers that discusses the problems of inborn diseases in terms of homeostasis. One paper traces "backward" from the disease phenotype to discover and investigate the gene, as well as moves "forward" from mutation in DNA to discover phenotypes or proteins connected with the disease. Specific genes are assigned to particular places (loci) on chromosomes that can manifest the presence or type of disease. Another paper examines a classical disease—osteogenesis imperfecta—pointing out that the aberrant collagen of osteogenesis imperfecta reflects mutation at chromosomes 7 and 17. Another paper shows that in osteogenesis imperfecta, Mendelian phenotypes lead to genes and their products as being involved in critical aspects of protein traffic in human cells. Several papers examine the inborn errors of metabolism covering the lacticacidemias, urea synthesis, the hyperphenylalaninaemias, and the hyperlipidaemias. Other papers investigate the effects of metabolic dishomeostasis caused by variant maternal genotypes on fetal development, the "androgen pathway, its known Mendelian variants
Author | : Sam Goldstein |
Publisher | : Guilford Press |
Total Pages | : 588 |
Release | : 2010-10-19 |
Genre | : Psychology |
ISBN | : 9781606239902 |
Download Handbook of Neurodevelopmental and Genetic Disorders in Children, 2/e Book in PDF, ePub and Kindle
Recognized as the definitive reference in the field, this book addresses a broad range of biologically based disorders that affect children's learning and development. Leading authorities review the genetics of each disorder; its course and outcome; associated developmental, cognitive, and psychosocial challenges; and what clinicians and educators need to know about effective approaches to assessment and intervention. Coverage encompasses more frequently diagnosed learning and behavior problems with a genetic component as well as numerous lower-incidence neurodevelopmental disabilities. Illustrations include 12 color plates.
Author | : Edward C.C. Wong |
Publisher | : Academic Press |
Total Pages | : 1172 |
Release | : 2021-05-13 |
Genre | : Science |
ISBN | : 0128179635 |
Download Biochemical and Molecular Basis of Pediatric Disease Book in PDF, ePub and Kindle
Biochemical and Molecular Basis of Pediatric Disease, Fifth Edition has been a well-respected reference in the field for decades. This revision continues the strong focus on understanding the pathogenesis of pediatric disease, emphasizing not only the important role of the clinical laboratory in defining parameters that change with the disease process, but also the molecular basis of many pediatric diseases. Provides a fully-updated resource with more color illustrations Focuses on the biochemical and molecular basis of disease as well as the analytical techniques Defines important differences in the pathophysiology of diseases, comparing childhood with adult
Author | : Peter S. Harper |
Publisher | : Oxford University Press |
Total Pages | : 570 |
Release | : 2008 |
Genre | : Language Arts & Disciplines |
ISBN | : 0195187504 |
Download A Short History of Medical Genetics Book in PDF, ePub and Kindle
"This book traces the development of genetics in medicine from the first descriptions of inherited diseases more than 300 years ago to the new applications resulting from mapping and sequencing the human genome. It follows both the scientific and the medical advances, focusing especially on those of the past 50 years, which have seen the field of medical genetics emerge as one of the foremost and most rapidly changing medical specialties, now influencing the whole of medicine. It also examines the ethical challenges faced by those working in the field, and describes some of the past disasters that have resulted from these being ignored, notably the abuses of eugenics and the catastrophic destruction of genetics in Soviet Russia. This is the first book of its kind; it is clearly and simply written, and will be valuable to all those who have an interest or concern in the development of medical genetics, as well as those actually working in the field. Historians and social scientists will likewise find this book an important foundation for future detailed studies, which are urgently needed."--BOOK JACKET.
Author | : Anne Slavotinek |
Publisher | : Elsevier Health Sciences |
Total Pages | : 211 |
Release | : 2023-09-14 |
Genre | : Medical |
ISBN | : 032393904X |
Download Pediatric Genetics, An Issue of Pediatric Clinics of North America, E-Book Book in PDF, ePub and Kindle
In this issue, guest editors bring their considerable expertise to this important topic. Provides in-depth reviews on the latest updates in the field, providing actionable insights for clinical practice. Presents the latest information on this timely, focused topic under the leadership of experienced editors in the field. Authors synthesize and distill the latest research and practice guidelines to create these timely topic-based reviews.
Author | : Robin D. Clark |
Publisher | : Oxford University Press |
Total Pages | : 401 |
Release | : 2019-01-16 |
Genre | : Medical |
ISBN | : 0190931043 |
Download Genetic Consultations in the Newborn Book in PDF, ePub and Kindle
"The definitive work in genetic evaluation of newborns. I cannot recommend it strongly enough." -Judith G. Hall As demand continues to exceed availability when it comes to clinical geneticists, Genetic Consultations in the Newborn offers an essential new resource for practitioners everywhere: a streamlined diagnostic manual that connects subtle symptoms of newborn dysmorphology to their differential diagnosis. Comprising more than 60 chapters organized by system and symptom, this book facilitates fast, expert navigation from recognition to management in syndromes that manifest during the newborn period. Richly illustrated and packed with pearls of practical wisdom from the authors' decades of practice, it empowers readers to recognize the outward signs and symptoms crucial for an effective diagnosis. For geneticists, neonatologists, pediatricians, and anyone else who cares for infants in their first days of life, Genetic Consultations in the Newborn provides an essential and unmatched resource for navigating one of the most challenging areas of clinical practice. It should not be missed.