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The Eye In Chromosome Duplications And Deficiencies
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Book Synopsis Genomic Disorders by : James R. Lupski
Download or read book Genomic Disorders written by James R. Lupski and published by Springer Science & Business Media. This book was released on 2007-11-10 with total page 419 pages. Available in PDF, EPUB and Kindle. Book excerpt: A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.
Download or read book Aortopathy written by Koichiro Niwa and published by Springer. This book was released on 2017-02-09 with total page 327 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is the first textbook to focus on Aortopathy, a new clinical concept for a form of vasculopathy. The first section of the book starts from discussing general concept and history of Aortopathy, and then deals with its pathophysiology, manifestation, intrinsic factor, clinical implication, management and prevention. The second part closely looks at various disorders of the Aortopathy such as bicuspid aortic valve and coarctation of aorta. The book editors have published a lot of works on the topic and have been collecting relating data in the field of congenital heart disease for the past 20 years, thus present the book with confidence. The topic - an association of aortic pathophysiological abnormality, aortic dilation and aorto-left ventricular interaction - is getting more and more attention among cardiovascular physicians. This is the first book to refer for cardiologists, pediatric cardiologists, surgeons, ACHD specialists, etc. to acquire thorough knowledge on Aortopathy.
Book Synopsis Genetic Diseases of the Eye by : Elias I. Traboulsi
Download or read book Genetic Diseases of the Eye written by Elias I. Traboulsi and published by OUP USA. This book was released on 2012-01-12 with total page 940 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book takes a clinical approach to the patient with a genetic disease that affects the eye. The chapters on particular types of diseases follow the same organizational format, covering history, pathogenesis and etiology, epidemiology, classification, clinical manifestations and diagnosis, and treatment. The recent progress achieved in the molecular genetics of eye disease is fully reflected throughout the book. It is written by leading experts in the field and provides clinical, molecular genetic and management information on common and rare diseases. The chapters are heavily illustrated and provide a good Atlas for the practicing ophthalmologist or geneticist.
Book Synopsis Chromosome Abnormalities and Genetic Counseling by : R.J. MKinlay Gardner
Download or read book Chromosome Abnormalities and Genetic Counseling written by R.J. MKinlay Gardner and published by OUP USA. This book was released on 2012 with total page 650 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.
Download or read book MRCOG Part One written by Alison Fiander and published by Cambridge University Press. This book was released on 2016-10-13 with total page 557 pages. Available in PDF, EPUB and Kindle. Book excerpt: A fully updated and illustrated handbook providing comprehensive coverage of all curriculum areas covered by the MRCOG Part 1 examination.
Book Synopsis Cardiac Regeneration by : Masaki Ieda
Download or read book Cardiac Regeneration written by Masaki Ieda and published by Springer. This book was released on 2017-10-27 with total page 277 pages. Available in PDF, EPUB and Kindle. Book excerpt: This Volume of the series Cardiac and Vascular Biology offers a comprehensive and exciting, state-of-the-art work on the current options and potentials of cardiac regeneration and repair. Several techniques and approaches have been developed for heart failure repair: direct injection of cells, programming of scar tissue into functional myocardium, and tissue-engineered heart muscle support. The book introduces the rationale for these different approaches in cell-based heart regeneration and discusses the most important considerations for clinical translation. Expert authors discuss when, why, and how heart muscle can be salvaged. The book represents a valuable resource for stem cell researchers, cardiologists, bioengineers, and biomedical scientists studying cardiac function and regeneration.
Book Synopsis The Chromosome 22q11.2 Deletion Syndrome by : Donna M. McDonald-McGinn
Download or read book The Chromosome 22q11.2 Deletion Syndrome written by Donna M. McDonald-McGinn and published by Academic Press. This book was released on 2022-08-19 with total page 526 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the etiology, prognosis, and recurrence risk associated with the chromosome 22q11.2 deletion syndrome. Leading international contributors cover the background, genetics, testing methods, and pathophysiology of 22q11.2DS, placing emphasis on a strong foundation for multidisciplinary treatment strategies. Written by specialists in every applicable subspecialty, such as, cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology, neurology, and psychiatry, among other fields. This book presents an authoritative resource with full color images that enhance concept illustration and aid in real-time decision-making. As 22q11.2 deletion syndrome has become a model for understanding rare and frequent anomalies, numerous medical issues, cognitive and behavioral phenotypes, and later onset conditions, this text will become the go to resource for clinicians, researchers, trainees, and motivated family members, in gaining a full understanding of this complex chromosomal disorder. - Provides a complete description of 22q11.2 deletion syndrome for healthcare professionals, researchers, trainees, and families affected by this common condition - Presents diagnostic and treatment strategies to help tackle this complex and often undiagnosed and therefore undertreated condition - Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest clinical experience and research in the field - Features leading international contributors in numerous sub-specialties, representing the multisystem nature of this condition - Includes full color figures, flow charts, tables, and patient images to guide real-time decision-making
Book Synopsis The Eye in Chromosome Duplications and Deficiencies by : Marcelle Jay
Download or read book The Eye in Chromosome Duplications and Deficiencies written by Marcelle Jay and published by . This book was released on 1977 with total page 268 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Management of Genetic Syndromes by : Suzanne B. Cassidy
Download or read book Management of Genetic Syndromes written by Suzanne B. Cassidy and published by John Wiley & Sons. This book was released on 2011-09-20 with total page 1678 pages. Available in PDF, EPUB and Kindle. Book excerpt: The bestselling guide to the medical management of common genetic syndromes —now fully revised and expanded A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an "unparalleled collection of knowledge." Since publication of the first edition, improvements in the molecular diagnostic testing of genetic conditions have greatly facilitated the identification of affected individuals. This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. Expanded to cover five new syndromes, this comprehensive new edition also features updates of chapters from the previous editions. Each chapter is written by an expert with extensive direct professional experience with that disorder and incorporates thoroughly updated material on new genetic findings, consensus diagnostic criteria, and management strategies. Edited by two of the field's most highly esteemed experts, this landmark volume provides: A precise reference of the physical manifestations of common genetic syndromes, clearly written for professionals and families Extensive updates, particularly in sections on diagnostic criteria and diagnostic testing, pathogenesis, and management A tried-and-tested, user-friendly format, with each chapter including information on incidence, etiology and pathogenesis, diagnostic criteria and testing, and differential diagnosis Up-to-date and well-written summaries of the manifestations followed by comprehensive management guidelines, with specific advice on evaluation and treatment for each system affected, including references to original studies and reviews A list of family support organizations and resources for professionals and families Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. It is also the reference of choice for ancillary health professionals, educators, and families of affected individuals looking to understand appropriate guidelines for the management of these disorders. From a review of the first edition: "An unparalleled collection of knowledge . . . unique, offering a gold mine of information." —American Journal of Medical Genetics
Book Synopsis Reproductive Genetics by : Sean Kehoe
Download or read book Reproductive Genetics written by Sean Kehoe and published by RCOG. This book was released on 2009-11 with total page 245 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents the findings of the RCOG Study Group findings on genetics underlying reproductive function.
Book Synopsis Principles of Psychiatric Genetics by : John I. Nurnberger
Download or read book Principles of Psychiatric Genetics written by John I. Nurnberger and published by Cambridge University Press. This book was released on 2012-09-13 with total page 415 pages. Available in PDF, EPUB and Kindle. Book excerpt: A comprehensive, up-to-date resource providing information about genetic influences on disorders of behavior.
Book Synopsis The Eye in Pediatric Systemic Disease by : Alex V. Levin
Download or read book The Eye in Pediatric Systemic Disease written by Alex V. Levin and published by Springer. This book was released on 2017-06-20 with total page 836 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is the first of its kind to describe ocular manifestations of systemic diseases in the pediatric population. Written and edited by experts in areas of pediatric ophthalmology and genetics, this new text covers a multitude of topics in a comprehensive and cataloged fashion. The Eye in Pediatric Systemic Disease is designed as an in-depth and up-to-date reference work that is heavily referenced, thus allowing the reader ready access to the international supporting literature. Everything from ocular manifestations of hematologic disease, child abuse, psychiatric diseases, renal disorders, and vitamin disorders are covered, allowing readers to know what to look for in the eyes of children with a given systemic disorder. The Eye in Pediatric Systemic Disease is written in language that is accessible to ophthalmologists and pediatricians, as well as allied health care professionals.
Book Synopsis Human Chromosomes by : Orlando J. Miller
Download or read book Human Chromosomes written by Orlando J. Miller and published by Springer Science & Business Media. This book was released on 2011-06-28 with total page 508 pages. Available in PDF, EPUB and Kindle. Book excerpt: The fourth edition of this well-known text provides students, researchers and technicians in the area of medicine, genetics and cell biology with a concise, understandable introduction to the structure and behavior of human chromosomes. This new edition continues to cover both basic and up-to-date material on normal and defective chromosomes, yet is particularly strengthened by the complete revision of the material on the molecular genetics of chromosomes and chromosomal defects. The mapping and molecular analysis of chromosomes is one of the most exciting and active areas of modern biomedical research, and this book will be invaluable to scientists, students, technicians and physicians with an interest in the function and dysfunction of chromosomes.
Book Synopsis The Exstrophy—Epispadias Complex by : John P. Gearhart
Download or read book The Exstrophy—Epispadias Complex written by John P. Gearhart and published by Springer Science & Business Media. This book was released on 1999-07-31 with total page 276 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book contains the most up-to-date scientific information on the anatomy, physiology, and pathophysiology of the bladder muscle, nerves, and collagen in the patient with bladder exstrophy. In addition, this book covers the most modern surgical treatment of the infant born with bladder exstrophy and those who fail initial reconstruction. Chapters are contributed by major children's centers throughout the world. The aims of this book are to familiarize both the resident and the experienced practitioner with the most modern methods for the treatment for bladder exstrophy and epispadias. This book deals with the function, innervation, and pathophysiology of the bladder muscle in the patient born with bladder exstrophy. New concepts from leading laboratories around the world regarding the function of the bladder are discussed. In addition, experts offer their advice, expertise, and thoughts concerning the management of the patient born with bladder exstrophy. This book is intended for researchers who are interested in both the innervation, structure and function of bladder muscle and for pediatricians, pediatric surgeons, pediatric orthopedic surgeons, and both adult and pediatric urologists who deal with patients from birth until adult life who are born with bladder exstrophy. This is the first book to deal specifically with the basic science of bladder exstrophy and the clinical management of the bladder exstrophy-epispadias complex.
Book Synopsis Cassidy and Allanson's Management of Genetic Syndromes by : John C. Carey
Download or read book Cassidy and Allanson's Management of Genetic Syndromes written by John C. Carey and published by John Wiley & Sons. This book was released on 2021-01-27 with total page 1104 pages. Available in PDF, EPUB and Kindle. Book excerpt: MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.
Book Synopsis Cytogenetics by : J. Schulz-Schaeffer
Download or read book Cytogenetics written by J. Schulz-Schaeffer and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 453 pages. Available in PDF, EPUB and Kindle. Book excerpt: Since 1961 the author has taught a course in Cytogenetics at Montana State University. Undergraduate and graduate stu dents of Biology, Chemistry, Microbiology, Animal and Range Science, Plant and Soil Science, Plant Pathology and Veterinary Science are enrolled. Therefore, the subject matter has been pre sented in an integrated way to correlate it with these diverse disciplines. This book has been prepared as a text for this course. The most recent Cytogenetics text was published in 1972, and rapidly developing research in this field makes a new one urgently needed. This book includes many aspects of Cytogenetics and related fields and is written for the college student as well as for the researcher. It is recommended that the student should have taken preparatory courses in Principles of Genetics and Cytol ogy. The content is more than is usually taught during one quar ter of an academic year, thus allowing an instructor to choose what he or she would like to present to a class. This approach also allows the researcher to obtain a broad exposure to this field of biology. References are generously supplied to stimulate orig inal reading on the subject and to give access to valuable sources. The detailed index is intended to be of special assistance to researchers.
Book Synopsis Fundamentals of Cytogenetics and Genetics by : Mahabal Ram
Download or read book Fundamentals of Cytogenetics and Genetics written by Mahabal Ram and published by PHI Learning Pvt. Ltd.. This book was released on 2010-09 with total page 676 pages. Available in PDF, EPUB and Kindle. Book excerpt: This comprehensive and well-written text provides thorough understanding of the principles and applications of cytogenetics and genetics in an easy-to-understand style. The text is divided into Four parts. Part I on Principles of Cytogenetics deals with evolution and structure of cell, cell division and change, and structure of genetic material. Part II on Principles of Genetics provides detailed discussions on transmission, distribution and arrangement of genetic material, and evolution of species. Part III which is on Molecular Genetics discusses functions of genetic material including biotechnology and genetic engineering, and the last Part IV on Quantitative Genetics deliberates on the course of genetic material in populations. A historical approach to the subject has also been presented to show the continuity and progress. KEY FEATURES: Incorporates latest and up-to-date information on the subjects covered. Provides review questions at the end of each chapter to test the understanding of the concepts discussed. Gives ample references to explore further. Includes a glossary of important terms. The book is eminently suitable for undergraduate and postgraduate students of botany, agriculture, zoology and biotechnology for courses in genetics/genetics and cytogenetics. In addition, the book would also be useful to students appearing in different competitive examinations.
