Medical Genetics In Pediatric Practice

Author : American Academy of Pediatrics
Publisher : Unknown
Page : 0 pages
File Size : 42,7 Mb
Release : 2013
Category : Genetic screening
ISBN : 1581104960

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Medical Genetics in Pediatric Practice by American Academy of Pediatrics Pdf

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,Ian D. Young
Publisher : Remedica
Page : 322 pages
File Size : 41,8 Mb
Release : 2005
Category : Medical
ISBN : 9781901346633

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Genetics for Pediatricians by Mohnish Suri,Ian D. Young Pdf

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
Page : 139 pages
File Size : 45,9 Mb
Release : 2014-04-12
Category : Medical
ISBN : 9781493905812

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Pediatric Genetics and Inborn Errors of Metabolism by Christine M. Houser Pdf

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 : Anne Slavotinek
Publisher : Elsevier Health Sciences
Page : 211 pages
File Size : 41,9 Mb
Release : 2023-09-14
Category : Medical
ISBN : 9780323939041

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Pediatric Genetics, An Issue of Pediatric Clinics of North America, E-Book by Anne Slavotinek Pdf

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 : Nathaniel H. Robin,Meagan Farmer
Publisher : Elsevier Health Sciences
Page : 350 pages
File Size : 47,6 Mb
Release : 2017-08-22
Category : Medical
ISBN : 9780323495967

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Pediatric Cancer Genetics by Nathaniel H. Robin,Meagan Farmer Pdf

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 : Antonie D. Kline,Ethylin Wang Jabs
Publisher : Academic Press
Page : 622 pages
File Size : 41,5 Mb
Release : 2023-11-04
Category : Medical
ISBN : 9780128164792

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Genomics in the Clinic by Antonie D. Kline,Ethylin Wang Jabs Pdf

Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling illustrates the current scope of the practice of genetics for healthcare professionals, so they can understand principles applicable to genetic testing and consultation. Written by an authoritative well-balanced team, including experienced clinical geneticists, genetic counselors, and medical subspecialists, this book adopts an accessible, easy-to-follow format. Sections are dedicated to basic genetic principles; clinical genetic and genomic testing; prenatal, clinical and cancer genetic diagnosis and counseling; and ethical and social implications in genomic medicine. Over 100 illustrative cases examine a range of prenatal, pediatric and adult genetic conditions and testing, putting these concepts and approaches into practice. Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling is important for primary care providers, as patient care evolves in the current genomic-influenced world of precision medicine. Clearly explains central concepts of genetic testing and genomic medicine for non-genetic physicians, healthcare providers, and trainees Offers clear steps for clinical integration of genetic concepts, genomic technology, and interpretation of genetic test results approachable and relevant to clinical practice Descriptive, applied case studies illustrate recommended genetic evaluation, counseling and management for a range of conditions throughout the lifetime

Author : Felissa R. Lashley, PhD, RN, FABMGG
Publisher : Springer Publishing Company
Page : 587 pages
File Size : 45,8 Mb
Release : 2005-04-15
Category : Medical
ISBN : 9780826123671

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Clinical Genetics in Nursing Practice by Felissa R. Lashley, PhD, RN, FABMGG Pdf

Designated a Doody's Core Title! The third edition of this award-winning text provides new and updated knowledge about genetics issues relevant to nursing practice. Read in sequence or used as a reference, this is a comprehensive overview of how genetics affetcs the care that nurses provide. In addition to a summary of basic human genetics and discussion of the Human Genome Project, this new edition includes the latest research findings and implications about inheritance, major genetic disorders (cytogenetics or chromosomal, inherited biochemical, and congenital anomalies), and genetics in twin studies. A consideration of the ethical impact of genetics on society and future generations, as well as information on assisted reproduction round out the overview. Includes over 100 illustrations and photos of specific genetic disorders; tables and figures on the distribution of disease; and an extensive appendix listing associations, organizations, and websites relevant to genetics.

Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publisher : Academic Press
Page : 320 pages
File Size : 46,9 Mb
Release : 2021-11-02
Category : Science
ISBN : 9780128152379

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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics by Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody Pdf

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies in this growing field. The book is ideal for medical students, residents, physicians and researchers involved in the care of patients with genetic conditions. This comprehensive, yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies. Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies Includes color images that support the identification, concept illustration, and method of processing Features contributions by leading international researchers and practitioners of medical genetics Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field

Author : Julia A. McMillan,Ralph D. Feigin,Catherine DeAngelis,M. Douglas Jones
Publisher : Lippincott Williams & Wilkins
Page : 2870 pages
File Size : 53,9 Mb
Release : 2006
Category : Medical
ISBN : 0781738946

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Oski's Pediatrics by Julia A. McMillan,Ralph D. Feigin,Catherine DeAngelis,M. Douglas Jones Pdf

A comprehensive guide to the current practice of pediatric care, this updated edition includes new chapters on complementary and alternative medicine, genetics in primary care, and updated chapters regarding infant and child behavior and development.

Author : Peter S. Harper
Publisher : Oxford University Press
Page : 570 pages
File Size : 49,6 Mb
Release : 2008
Category : Language Arts & Disciplines
ISBN : 9780195187502

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A Short History of Medical Genetics by Peter S. Harper Pdf

"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 : David L. Rimoin,Alan E. H. Emery
Publisher : Unknown
Page : 1264 pages
File Size : 49,6 Mb
Release : 2007
Category : Genetic disorders
ISBN : UCLA:L0099470627

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Emery and Rimoin's Principles and Practice of Medical Genetics by David L. Rimoin,Alan E. H. Emery Pdf

"For decades, Emery and Rimoin's Principles and Practice of Medical Genetics has provided the ultimate source for practicing clinicians to learn how the study of genetics can be integrated into practice. With advances in high-throughput technologies propelling the closer integration of lab and clinical work, this 6e bridges the gap between high-level molecular genetics and individual application. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders. Clinically oriented information is supported by expanded sections on basic principles of genetics, research approaches, and analytics to embrace the evolving population of students, researchers, and practitioners who are integrating their work to provide advanced diagnosis, prevention and treatment of human disease. Over 250 of the world's most trusted authorities in medical genetics will contribute to the new release of the revised electronic edition of the work. Regular updates and the integration of teaching tools such as videos and graphics will distinguish this work from the competition. Links to sites such as Online Mendelian Inheritance in Man (OMIM) and similar sites that provide up-to-date information on human genes and genetic phenotypes will make this product the ultimate source for students, researchers, and practitioners alike."--Publisher's website.

Author : Anonim
Publisher : Unknown
Page : 128 pages
File Size : 53,9 Mb
Release : 1978
Category : Electronic
ISBN : OCLC:605367529

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Medical Genetics by Anonim Pdf

Author : Felissa R. Lashley
Publisher : Springer Publishing Company
Page : 568 pages
File Size : 50,6 Mb
Release : 1998
Category : Medical
ISBN : UOM:39015045691972

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Clinical Genetics in Nursing Practice by Felissa R. Lashley Pdf

New edition of a formerly out-of-print work published in 1984 when the author's name was Felissa Cohen. It emphasizes the importance of understanding genetics in nursing, and maintains that health professionals still are not fully educated in this field. Covers such topics as major genetic disorders

Author : Mary Briody Mahowald
Publisher : Unknown
Page : 328 pages
File Size : 50,8 Mb
Release : 2001
Category : Genetics
ISBN : UOM:39015050510570

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Genetics in the Clinic by Mary Briody Mahowald Pdf

Genetics in the Clinicprovides a broad understanding of advances in genetics and their implications for primary care practice. The book begins with basic concepts in genetics, diagnosis and management of genetic disease, cancer genetics, and prenatal testing. Part Two deals with topics relevant to all areas of primary care, such as cultural and ethnic differences, the role of the nurse, and genetic counselling. Part Threeaddresses ethical or social issues applicable to specific practices. The book's final section considers regulatory matters, including the impact of managed care and insurance and employment issues. Practitioners who are knowledgeable about health care, but who have no special training in genetics, will find this book especially useful as they learn to deal with the clinical, ethical, and social implications of advances in genetics for their practice. Thoroughly explains how to obtain a useful family history, what kind of genetic tests to order and when, how to counsel parents about testing of children, how to counsel for late onset or susceptibility conditions, and how to identify those for whom cancer risk or other risk testing is appropriate. Expert perspectives on disability, ethnic, gender, and class differences, reflecting the wide variety of patients seen by today's practitioners. Glossary of genetic terms and extensive bibliography of print and electronic sources - useful for clinicians who want to update their practice or for explaining complex terminology to patients. Dr. McKusick is world-renowned for his expertise in the field of human genetics and specific genetic conditions. Contributors have been trained in various areas of primary care: obstetrics, paediatrics, family medicine, internal medicine, and nursing

Author : Michael M. Kaback
Publisher : Unknown
Page : 632 pages
File Size : 49,8 Mb
Release : 1981
Category : Abnormalities, Human
ISBN : UOM:39015000316011

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Genetic Issues in Pediatric and Obstetric Practice by Michael M. Kaback Pdf