Overgrowth Syndromes
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Overgrowth Syndromes
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Author : Giovanni Neri
language : en
Publisher: Oxford University Press
Release Date : 2019-02-15
Overgrowth Syndromes written by Giovanni Neri and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-02-15 with Medical categories.
Overgrowth Syndromes is a comprehensive clinical guide to the well-defined genetic disorders (and others that are less well-defined) for which somatic overgrowth is a major manifestation. It details the unique characteristics and known causative genes for this class of disorders, offering clinicians an expert resource for both clinical diagnosis and laboratory confirmation. Assembled by the world's leading experts on overgrowth, this volume maximizes clinical utility without sacrificing nuance or rigor. It codifies the last decade's sweeping advances in understanding general and segmental overgrowth, including the latter's mosaic nature and phenotypic variability. It is an essential resource for clinicians navigating this set of conditions from clinical presentation all the way to counseling and anticipatory management.
Overgrowth Syndromes
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AUDIOBOOK
Author : Giovanni Neri
language : en
Publisher: Oxford University Press
Release Date : 2019-02-15
Overgrowth Syndromes written by Giovanni Neri and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-02-15 with Medical categories.
Overgrowth Syndromes is a comprehensive clinical guide to the well-defined genetic disorders (and others that are less well-defined) for which somatic overgrowth is a major manifestation. It details the unique characteristics and known causative genes for this class of disorders, offering clinicians an expert resource for both clinical diagnosis and laboratory confirmation. Assembled by the world's leading experts on overgrowth, this volume maximizes clinical utility without sacrificing nuance or rigor. It codifies the last decade's sweeping advances in understanding general and segmental overgrowth, including the latter's mosaic nature and phenotypic variability. It is an essential resource for clinicians navigating this set of conditions from clinical presentation all the way to counseling and anticipatory management.
Syndromes Of The Head And Neck
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Author : Robert J. Gorlin
language : en
Publisher:
Release Date : 2001
Syndromes Of The Head And Neck written by Robert J. Gorlin and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2001 with Diseases categories.
1. Deformations and Disruptions2. Teratogenic Agents3. Chromosomal Syndromes: Common and/or Well-Known Syndromes4. Chromosomal Syndromes: Unusual Variants5. Metabolic Disorders6. Syndromes Affecting Bone: The Osteogenesis Imperfectas7. Syndromes Affecting Bone: Chondrodysplasias and Chondrodystrophies8. Syndromes Affecting Bone: Craniotubular Bone Disorders9. Syndromes Affecting Bone: Other Skeletal Dysplasias10. Proportionate Short Stature Syndromes11. Overgrowth Syndromes and Postnatal Onset Obesity Syndromes12. Hamartoneoplastic Syndromes13. Syndromes Affecting the Skin and Mucosa14. Syndro.
Endocrine Involvement In Developmental Syndromes
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Author : Marco Cappa
language : en
Publisher: Karger Medical and Scientific Publishers
Release Date : 2009-01-01
Endocrine Involvement In Developmental Syndromes written by Marco Cappa and has been published by Karger Medical and Scientific Publishers this book supported file pdf, txt, epub, kindle and other format this book has been release on 2009-01-01 with Medical categories.
In recent years a significant improvement in the understanding of genetics and developmental syndromes has been seen. In this context, the study of endocrinological aspects in patients with genetic syndromes is acquiring increasing significance.This book documents a workshop held in Rome in April 2008 and presents recent advances in the study of developmental syndromes and epigenetics. Contributions by international experts focus on the genetic aspects of Beckwith-Wiedemann, Silver-Russel, Prader-Willi and Angelman syndromes and many more.Providing an eclectic update on the endocrine involvement in developmental syndromes, this book will be of interest to clinicians and researchers in endocrinology, pediatrics and genetics.
Overgrowth Syndromes
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Author : Meyer Michael Cohen
language : en
Publisher:
Release Date : 2002
Overgrowth Syndromes written by Meyer Michael Cohen and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2002 with Medical categories.
Overgrowth Syndromes presents a broad yet in-depth discussion of children who are large at birth or experience excessive postnatal growth or some combination of increased weight, length, and head circumference. Many of these syndromes are associated with an increased frequency of tumors. The book is important because of the ever-increasing number of newly identified overgrowth syndromes and the rapid progression of molecular knowledge of these conditions. It covers: Beckwith Wiedemann syndrome, Simpson-Golabi-Behmel syndrome, Sotos syndrome, Proteus syndrome, Bannayan-Riley-Ruvalcaba syndrome, Klippel-Trenaunay syndrome, neurofibromatosis, and fragile X syndrome, among other topics. Each chapter provides a historical perspective and deals with epidemiology, etiology, and molecular biology when known, clinical and pathological features, diagnostic criteria, and differential diagnosis. The book is encyclopedic in scope. It will be of value to pediatricians, medical geneticists, oncologists, hematologists, surgeons, pathologists, radiologists, dermatologists, nephrologists, and molecular biologists.
Syndromes Of The Head And Neck
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Author : Robert J. Gorlin
language : en
Publisher: Oxford University Press
Release Date : 2001-09-27
Syndromes Of The Head And Neck written by Robert J. Gorlin and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2001-09-27 with Medical categories.
This classic text, one of the true anchors of our clinical genetics publishing program, covers over 700 different genetic syndromes involving the head and neck, and it has established itself as the definitive, comprehensive work on the subject. The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. The authors are recognized leaders in the field, and their vast knowledge and strong clinical judgment will help readers make sense of this complex and burgeoning field. Dr. Gorlin retires as editor in this edition and co-editor Raoul Hennekam takes over. Dr. Hennekam is regarded as one of the top dysmorphologists--and indeed one of the top clinical geneticists--in the world. Judith Allanson is new to the book but is a veteran OUP author and a widely respected geneticist, and Ian Krantz at Penn is a rising star in the field. Dr. Gorlin's name has always been closely associated with the book, and it has now become part of the title. As in all fields of genetics, there has been an explosion in the genetics of dysmorphology syndromes, and the author has undertaken a complete updating of all chapters in light of the discoveries of the Human Genome Project and other ongoing advances, with some chapters requiring complete rewriting. Additional material has been added both in terms of new syndromes and in updating information on existing syndromes. The book will appeal to clinical geneticists, pediatricians, neurologists, head and neck surgeons, otolarynologists, and dentists. The 4th edition, which published in 2001, has sold 2,600 copies.
Advances In Human Genetics
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Author : Harry Harris
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06
Advances In Human Genetics written by Harry Harris and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-12-06 with Medical categories.
The latest volume in this respected series considers chromosome instability and overgrowth syndromes, lacticacidemia, the molecular basis of HLA disease association, and the genetics of growth hormone and its disorders. Annotation copyright Book News, Inc. Portland, Or.
Harper S Textbook Of Pediatric Dermatology 2 Volume Set
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Author : Peter H. Hoeger
language : en
Publisher: John Wiley & Sons
Release Date : 2019-12-16
Harper S Textbook Of Pediatric Dermatology 2 Volume Set written by Peter H. Hoeger and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-12-16 with Medical categories.
A consummate classic with a fresh approach to pediatric dermatology Children ́s skin is different. Maturation affects the epidermal barrier, the cutaneous microbiome, adnexal structures, vasculature, and transcutaneous absorption of drugs. The immature skin is more susceptible to pathogens and environmental disruption. Many genetic disorders are either present at birth or manifest early in childhood. Skin diseases thus present differently in children than in adults. Pediatric dermatology has seen significant advances over the last decade, particularly in the field of molecular genetics research, which has furthered our understanding of the pathogenesis of many skin diseases and the development of new approaches to treatment. This fourth edition of the Harper classic provides state-of-the-art information on all aspects of skin disease in children. It covers the diagnosis and treatment of all conditions - both common and rare - with a consistently evidence-based approach. Existing content has been refreshed and fully updated to reflect emerging thinking and to incorporate the latest in research and clinical data - especially at the genetic level. This new fourth edition includes: Greater focus on the genetics behind skin disease, including new genes/genodermatoses, progress in genetic analysis, and stem cell transplants Increased coverage of lasers and other technologies used to treat skin disease More summary tables, learning points, tables of differential diagnosis, and clinical algorithms for diagnosis and management Additional online features, including patient information links and multiple choice questions Harper's Textbook of Pediatric Dermatology delivers crucial clinical insights and up-to-date research information that spans the breadth of the field. As the most comprehensive reference book on this subject available, this revised fourth edition will support and guide the daily practice of both dermatologists and pediatricians across the world.
Neurocutaneous Syndromes
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Author : Monica P. Islam
language : en
Publisher: Elsevier
Release Date : 2015-11-09
Neurocutaneous Syndromes written by Monica P. Islam and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-11-09 with Science categories.
Neurocutaneous Syndromes provides the most updated and comprehensive resource on the disorders that lead to the growth of tumors in various parts of the body, those caused by the abnormal development of cells in an embryo and characterized by the presence of tumors in various parts of the body and eyes, including the nervous system, and by certain differences in the skin. The most common neurocutaneous syndromes include, neurofibromatosis, Sturge-Weber syndrome, tuberous sclerosis, ataxia-telangiectasia, and von Hippel-Lindau disease. Symptoms vary widely and while present early may not express until later in life. As molecular medicine and genetic science is continuing to impact our understanding of neurocutaneous syndromes, this book also includes the latest molecular and genetic science. Provides a comprehensive coverage of neurocutaneous syndromes Details the latest molecular and genetic science related to neurocutaneous syndromes Presents a focused reference for clinical practitioners and the neuroscience, clinical neurology, and neurogenetics research communities Includes updated sections on the latest molecular and genetic science
Cassidy And Allanson S Management Of Genetic Syndromes
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Author : John C. Carey
language : en
Publisher: John Wiley & Sons
Release Date : 2021-01-27
Cassidy And Allanson S Management Of Genetic Syndromes written by John C. Carey and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-01-27 with Science categories.
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.
