Download or read book Syndromes of the Head and Neck written by Robert J. Gorlin and published by Oxford University Press. This book was released on 2001-09-27 with total page 1332 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Download or read book Dento Oro Craniofacial Anomalies and Genetics written by Agnes Bloch-Zupan and published by Elsevier. This book was released on 2012-03-21 with total page 265 pages. Available in PDF, EPUB and Kindle. Book excerpt: Dental defects may be the physical expression of genetic defects, and so they can often be seen in a variety of syndromes associated with malformations of organs. However, dental defects are often not recognized, identified, nor characterised despite representing a possible diagnostic sign for an undiagnosed condition. This book addresses this gap by providing an understanding of dental genetics and its developmental biology counterpart. With approximately seventy well-illustrated examples, the authors present the clinical oro-facial manifestations accompanying various syndromes, providing the necessary knowledge for diagnostic purposes, as well as giving insight into recent development for each specific condition. The clarity and format of this book make it an ideal support guide both in the clinic and while conducting research. Comprehensive examination of dento/oro/craniofacial anomalies Well-illustrated examples Presented in a compact, easy to use format

Download or read book DNA Repair Disorders written by Chikako Nishigori and published by Springer. This book was released on 2018-12-31 with total page 222 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book focuses on the clinical aspects of DNA repair disorders. Nucleotide excision repair is an important pathway for humans, as it is involved in biologically fundamental functions. This work presents clinical features together with the pathogenesis of DNA repair disorders such as Xertoderma Pigmentosum (XP). Studies on animal models are included as well. Clinical feature characteristics of each clinical subtype of XP are depicted according to the genotype, giving accurate and detailed information about the clinical features in terms of gene alterations, change of protein structure, and dysfunction in some of the repair pathways. This book is unique in that it provides detailed information on clinical features from more than 100 patients with XP-A, which is characterized by very severe manifestation of skin photosensitivity and neurological dysfunction. It will give readers important knowledge for understanding the concept and molecular mechanisms of DNA repair disorders. It also describes how to treat and care for patients with XP based on vast experience in clinical practice. DNA Repair Disorders will be a useful resource not only for physicians and basic scientists who are interested in and/or take care of patients with DNA repair disorders, but also dermatologists, neurologists, and researchers in the field of radiation biology and photobiology.

Download or read book Human Malformations and Related Anomalies written by Roger E. Stevenson and published by Oxford University Press. This book was released on 2005-10-27 with total page 1510 pages. Available in PDF, EPUB and Kindle. Book excerpt: This widely acclaimed reference work gives a comprehensive survey of all significant human malformations and related anomalies from the perspective of the clinician. The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. When known, the molecular or other pathogenetic basis for the malformation is given. Most anomalies are illustrated by photographs or drawings. Specific malformations are linked to syndromes through the extensive use of differential diagnosis tables. Over a decade has passed since the first edition of this book was published, and the revised edition fully incorporates the advances made in the field during the intervening years.. It reflects new understanding of human developmental biology that has emerged from molecular, cytogenetic, and biochemical studies; new observations by clinicians as well as enhanced diagnostic and prevention capacities; and more accurate and comprehensive epidemiology. By condensing much of the information presented in the first volume of the previous edition, and exercising rigorous editorial control, Drs. Stevenson and Hall and their contributors have managed to update the book while reducing its size to that of a single volume. All clinicians and scientists interested in birth defects, including pediatricians, geneticists, genetic counselors, obstetricians, and pediatric pathologists, will find this book to be an invaluable source of information.

Download or read book Anesthesia for Genetic Metabolic and Dysmorphic Syndromes of Childhood written by Victor C. Baum and published by Lippincott Williams & Wilkins. This book was released on 2007 with total page 444 pages. Available in PDF, EPUB and Kindle. Book excerpt: Thoroughly updated for its Second Edition, this reference is the only single-source guide to the anesthetic management of children and adults with genetic, metabolic, and dysmorphic syndromes. In a format designed for quick, easy look-up, this edition provides an encyclopedic review of well over 500 distinct syndromes, with up-to-date information, complete current bibliographies, and over 140 clinical photographs. Syndromes and synonyms are listed alphabetically and synonyms are cross-referenced. Each syndrome is presented in an easy-to-follow format: name, synonym(s), common and uncommon manifestations in each organ system, and anesthetic considerations. If a syndrome has no anesthetic implications, this is also indicated.

Download or read book Handbook of Neurodevelopmental and Genetic Disorders in Adults written by Sam Goldstein and published by Guilford Press. This book was released on 2005-08-24 with total page 509 pages. Available in PDF, EPUB and Kindle. Book excerpt: While neurodevelopmental and genetic disorders are often diagnosed in childhood, understanding and managing the impact of these conditions is a lifelong challenge. This authoritative handbook presents cutting-edge knowledge to guide effective assessment and treatment throughout the adult years. Illuminated are the neurobiological bases and clinical characteristics of a broad range of conditions that affect learning and behavior as well as physical functioning and health. Following a consistent format, chapters comprehensively describe the developmental course of each disorder, the changing needs of adults, and ways to help them harness their strengths.

Download or read book Color Atlas of Orofacial Health and Disease in Children and Adolescents written by Crispian Scully and published by CRC Press. This book was released on 2001-11-08 with total page 241 pages. Available in PDF, EPUB and Kindle. Book excerpt: Like the successful first edition, this improved, updated and expanded second edition profiles the common orofacial disorders and a wide range of less common and some rare disorders. The focus is on the occurrence of these disorders in children and adolescents, and the author tailors the commentary to specific pediatric age groups. In the new edition, the text includes treatment recommendations for the most common oral diseases. Any health professional called upon to diagnose and treat children who have orofacial problems will benefit from the wealth of material offered here.

Download or read book Neurocutaneous Diseases written by Manuel Rodriguez Gomez and published by Butterworth-Heinemann. This book was released on 2013-10-22 with total page 414 pages. Available in PDF, EPUB and Kindle. Book excerpt: Neurocutaneous Diseases is a systematic presentation limited to diseases that affect both of the nervous system and skin of humans. Neurologists and dermatologist will find knowledge of these diseases of real clinical value. Many of the diseases described in these pages do not affect the skin and nervous system simultaneously. Many of these diseases, mostly not well understood, may stimulate new lines of scientific inquiry, for understanding of a pathologic change in easily accessible dermal cells that promises to clarify a more recondite brain disease. This book is organized into five main parts. The chapters describe different types of diseases including those with autosomal dominant inheritance, those with autosomal recessive inheritance, those with x-linked inheritance, those with unknown or multiple inheritance and congenital and vascular anomalies. These diseases include neurofibromatosis, Cockayne's Syndrome, adrenoleukodystrophy, albinism and neurocutaneous melanosis. This book will be of interest to dermatologists and neurologists.

Download or read book The Genetics of Aging written by Edward Schneider and published by Springer Science & Business Media. This book was released on 2013-11-11 with total page 427 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Genetics of Aging is divided into several sections in an attempt to provide a logical progression from the level of the genome to the realm of human genetics. The relationship between the genetic material and aging will be thoroughly explored in the initial chapters. These chapters discuss in depth the various theories that have been proposed for the mechanisms of aging at the molecular level and present data which either support or contradict these hypotheses. Subsequent chapters will deal with the genetics of aging in organisms ranging from paramecium to mammals. The largest section of this volume will be devoted to several important areas in human genetics: human genetic disorders which feature premature aging, the effect of human parental aging on the production of genetically abnor mal offspring, the genetics of human longevity, and a review of studies on aging human twins. Over the last few decades genetic technology has provided enormous insight into a number of disciplines. Therefore, in the last few chapters, several genetic approaches to the study of aging are discussed: somatic cell genetics, immunogenetics, and behavioral genetics. As the goal of this volume is to present a comprehensive examination of the genetics of aging, most chapters are oriented toward general review of their respective areas. It is my hope that this volume will encourage clinical, biological, and behavioral investigators to turn their attention to the genetic aspects of aging as well as to employ genetic technology to obtain further insight into aging processes.

Download or read book Diagnostic Recognition of Genetic Disease written by William L. Nyhan and published by . This book was released on 1987 with total page 746 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Pathology of the Hard Dental Tissues written by Albert Schuurs and published by John Wiley & Sons. This book was released on 2012-09-27 with total page 915 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is a seminal text uniquely dedicated to oral hard tissue pathology, presenting the growth of clinical knowledge and advancement in the field in recent years. Starting with a discussion of numerical and formative anomalies and unusual eruption, the book goes on to consider caries, erosion, resorption and toothwear, as well as tooth fractures and discolouration, and ends with a chapter on congenital syndromes with dental anomalies. Pathology of the Hard Dental Tissues is an invaluable reference for specialist practitioners and researchers as well as dental students, combining a scholarly overview of the field with clinical management protocols. Includes prevention techniques as well as treatment regimes Contains many colour clinical photographs Accompanied by a large number of references Provides helpful tables to categorise the causes and characteristics of lesions Written by a leading expert in the field

Download or read book Oral Manifestations of Inherited Disorders written by Heddie O. Sedano and published by Butterworth-Heinemann. This book was released on 2013-09-11 with total page 225 pages. Available in PDF, EPUB and Kindle. Book excerpt: Oral Manifestations of Inherited Disorders focuses on inherited systemic disorders presenting oral manifestations that have been reported as an integral part of the disorder. This book discusses some inherited conditions affecting only calcified dental tissues. Organized into seven chapters, this book begins with an overview of the distinctive pattern of signs and symptoms that enable the clinician to make a diagnosis. This text then examines the hereditary defects in enamel. Other chapters consider the characteristics of acroosteolysis. This book discusses as well the oral structures in patients with Apert syndrome. The final chapter deals with the condition of beard-headed dwarfism, which is characterized by low birth weight, dwarfism, microcephaly, mental retardation, and beak-like appearance of the mid-face. This book is a valuable resource for those professionals interested in the malformation syndromes and in the oral manifestations of inherited disorders. Clinicians, geneticists, dentists, and physicians will also find this book useful.

Download or read book The Pigmentary System written by James J. Nordlund and published by John Wiley & Sons. This book was released on 2008-04-15 with total page 1248 pages. Available in PDF, EPUB and Kindle. Book excerpt: The most comprehensive and integrated book on pigmentation The Pigmentary System, Second Edition, gathers into one convenient, all-inclusive volume a wealth of information about the science of pigmentation and all the common and rare clinical disorders that affect skin color. The two parts, physiology (science) and pathophysiology (clinical disorders), are complementary and annotated so that those reading one part can easily refer to relevant sections in the other. For the clinician interested in common or rare pigment disorders or the principles of teaching about such disorders, this book provides an immediate and complete resource on the biologic bases for these disorders. For the scientist studying the biology of melanocyte function, the book provides a list of disorders that are related to basic biological functions of melanocytes. New features of this Second Edition include: Completely new section on the basic science of pigmentation – explaining the integration of melanocyte functions with other epidermal cells and with various organ systems like the immune system New chapters on pigmentary disorders related to intestinal diseases, the malignant melanocyte, benign proliferations of melanocytes (nevi) and phototherapy with narrow band UV All clinical chapters include the latest genetic findings and advances in therapy More than 400 color images of virtually all clinical disorders The book is ideal for all dermatologists and especially those interested in disorders of pigmentation. It is of particular use for pediatric dermatologists and medical geneticists caring for patients with congenital and genetic pigmentary disorders. This authoritative volume will fill the gap for dermatology training programs that do not have local experts on pigmentation. Basic and cosmetic scientists studying pigmentation and melanocytes will find the science and clinical correlations very useful in showing human significance and relevance to the results of their studies.

Download or read book Herpes Zoster New Insights for the Healthcare Professional 2012 Edition written by and published by ScholarlyEditions. This book was released on 2012-12-10 with total page 26 pages. Available in PDF, EPUB and Kindle. Book excerpt: Herpes Zoster: New Insights for the Healthcare Professional / 2012 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Herpes Zoster in a compact format. The editors have built Herpes Zoster: New Insights for the Healthcare Professional / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Herpes Zoster in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Herpes Zoster: New Insights for the Healthcare Professional / 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.

Download or read book Atlas of Genodermatoses written by Ruggero Caputo and published by CRC Press. This book was released on 2005-12-12 with total page 448 pages. Available in PDF, EPUB and Kindle. Book excerpt: A lavishly illustrated guide to almost 200 inherited diseases of the skin, hair, and nails. Each entry includes synonyms, age of onset, clinical findings, complications, course, laboratory findings, diagnosis, therapy, and key references, adding up to far more than just a collection of photographs. In addition to being a clinical primer, this is also a work of scientific research and contains the first printed description of two new syndromes. The fast-moving world of genetic research means that the latest genetic correlations, included here, render previous texts out of date. All specialists in Dermatology and Pediatrics should find this an invaluable front-line resource in the clinic.

Download or read book A Practical Guide to Human Cancer Genetics written by Shirley V. Hodgson and published by Springer Science & Business Media. This book was released on 2013-11-22 with total page 434 pages. Available in PDF, EPUB and Kindle. Book excerpt: This is a comprehensive and up-to-date guide to the diagnosis, clinical features and management of inherited disorders conferring cancer susceptibility. It is fully updated with much molecular, screening and management information. It covers risk analysis and genetic counselling for individuals with a family history of cancer. It also discusses predictive testing and the organisation of the cancer genetics service. There is information about the genes causing Mendelian cancer predisposing conditions and their mechanism of action. It aims to provide such details in a practical format for geneticists and clinicians in all disciplines.

Download or read book McKee s Pathology of the Skin 2 Volume Set E Book written by J. Eduardo Calonje and published by Elsevier Health Sciences. This book was released on 2018-10-29 with total page 2723 pages. Available in PDF, EPUB and Kindle. Book excerpt: Comprehensive and lavishly illustrated, McKee's Pathology of the Skin, 5th Edition, is your reference of choice for up-to-date, authoritative information on dermatopathology. You'll find clinical guidance from internationally renowned experts along with details on etiology, pathogenesis, histopathology, and differential diagnosis – making this unique reference unparalleled in its wealth of clinical and histopathological material. The 5th Edition of this classic text is a must-have resource for practicing dermatopathologists and general pathologists who sign out skin biopsies. - Covers pathological aspects of skin diseases in addition to providing superb descriptions and illustrations of their clinical manifestations – the only available reference with this unique combination of features. - Integrates dermatopathology, clinical correlations, and clinical photographs throughout, and features bulleted lists of clinical features and differential diagnosis tables for easy reference. - Contains more than 5,000 superb histopathologic and clinical illustrations that demonstrate the range of histologic manifestations. - Brings you fully up to date with key molecular aspects of disease, the capabilities and limitations of molecular diagnostics, and targeted/personalized medicine. - Features up-to-date information on biologics, drug eruptions, and other developments in therapeutics. - Helps you stay current with the latest diagnostic tumor markers and other new developments in immunohistochemistry. - Includes a completely revised chapter on cutaneous lymphoma that reflects recent WHO-EORTC classification changes, as well as new coverage of sentinel lymph node biopsy for melanoma. - Shares the knowledge of the main editor Dr. J. Eduardo Calonje, along with co-editors Thomas Brenn, and Alexander Lazar, and new co-editor Steven D. Billings who offers expertise on both dermatopathology and soft tissue tumors. - Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.