The 22q11 2 Chromosome Deletion Syndrome

The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the diagnosis, treatment and patient aspects of this 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 cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology and neurology, among other fields, this book presents an authoritative resource with full color figures, flow charts and tables that enhance concept illustration and aid in real-time decision-making. As 22q11.2DS has become a model for understanding rare and frequent congenital anomalies, this book will help researchers, clinicians and advanced students gain a full understanding of how to diagnosis and treat rare genetic diseases. Provides a comprehensive description of 22q11.2DS syndrome for healthcare professionals, researchers and students Presents diagnostic and treatment strategies to help tackle this complex and often misdiagnosed and undertreated syndrome Covered in a user-friendly, practical format that emphasizes evidence-based evaluation and treatment derived from the latest research in the field Features leading international contributors in various sub-specialties, representing the many body systems affected by this syndrome Includes full color figures, flow charts and tables to guide real-time decision-making

Produk Detail:

  • Author : Donna M. McDonald-McGinn
  • Publisher : Academic Press
  • Pages : 424 pages
  • ISBN : 9780128160473
  • Rating : 4/5 from 21 reviews
CLICK HERE TO GET THIS BOOKThe 22q11 2 Chromosome Deletion Syndrome

The 22q11. 2 Chromosome Deletion Syndrome

The 22q11. 2 Chromosome Deletion Syndrome
  • Author : Donna M. McDonald-McGinn
  • Publisher : Academic Press
  • Release : 01 March 2020
GET THIS BOOKThe 22q11. 2 Chromosome Deletion Syndrome

The Chromosome 22q11.2 Deletion Syndrome: A Multidisciplinary Approach to Diagnosis and Treatment serves as the first comprehensive, user-friendly resource on the diagnosis, treatment and patient aspects of this 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 cardiology, immunology, endocrinology, gastroenterology, hematology, ophthalmology and neurology, among other fields, this book presents an authoritative resource with full color figures, flow charts

Genomic Disorders

Genomic Disorders
  • Author : James R. Lupski,Pawel T. Stankiewicz
  • Publisher : Springer Science & Business Media
  • Release : 10 November 2007
GET THIS BOOKGenomic Disorders

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

Psychiatric Genetics

Psychiatric Genetics
  • Author : Jordan W. Smoller,Beth Rosen Sheidley,Ming T. Tsuang
  • Publisher : American Psychiatric Pub
  • Release : 20 February 2009
GET THIS BOOKPsychiatric Genetics

As more patients seek information about family risks of psychiatric illness -- an interest likely to increase as gene-identification studies are publicized -- most psychiatrists agree it is their role to discuss these issues but admit they are ill-prepared to do so. Psychiatric Genetics addresses that need as the first book to focus on clinical applications of genetics in psychiatry. It covers issues involved in genetic counseling, the interpretation of familial and genetic information for clinical use, information regarding risks

Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition

Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition
  • Author : Donna Cutler-Landsman
  • Publisher : Plural Publishing
  • Release : 01 January 2020
GET THIS BOOKEducating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition

The 22q11.2 deletion syndrome, also known as velo-cardio-facial syndrome and DiGeorge syndrome, is relatively new. The genetic test to determine if a child has it has only been available since 1994. Educating Children with Velo-Cardio-Facial Syndrome, 22q11.2 Deletion Syndrome, and DiGeorge Syndrome, Third Edition, effectively blends the thoughtful research that has transpired within the past 25 years with practical and current educational strategies to better meet the needs of children with the 22q11.2 deletion syndrome and other developmental disabilities. With its expanded

Heart Development

Heart Development
  • Author : Richard A. Harvey,Richard P. Harvey,Nadia Rosenthal,Richard A Harvey, PhD
  • Publisher : Gulf Professional Publishing
  • Release : 21 January 1999
GET THIS BOOKHeart Development

This book examines recent studies revealing that the same genes are responsible for development of parallel features between species, and that the heart develops similarly across all species. It includes research being conducted concerning cardiac development, tissue interaction, and organ formation. The text attempts to provide a greater understanding of the underlying causes of heart failure, heart muscle diseases, congenital malformations, and other heart diseases and defects. Key Features * Each chapter has been solicited from a recognized leader in the

Secondary Schizophrenia

Secondary Schizophrenia
  • Author : Perminder S. Sachdev,Matcheri S. Keshavan
  • Publisher : Cambridge University Press
  • Release : 04 February 2010
GET THIS BOOKSecondary Schizophrenia

Schizophrenia may not be a single disease, but the result of a diverse set of related conditions. Modern neuroscience is beginning to reveal some of the genetic and environmental underpinnings of schizophrenia; however, an approach less well travelled is to examine the medical disorders that produce symptoms resembling schizophrenia. This book is the first major attempt to bring together the diseases that produce what has been termed 'secondary schizophrenia'. International experts from diverse backgrounds ask the questions: does this medical

Autism and Other Neurodevelopmental Disorders

Autism and Other Neurodevelopmental Disorders
  • Author : Robin L. Hansen,Sally J. Rogers
  • Publisher : American Psychiatric Pub
  • Release : 21 January 2022
GET THIS BOOKAutism and Other Neurodevelopmental Disorders

Autism and Other Neurodevelopmental Disorders gathers and organizes the most recent information in this important and rapidly expanding field into a clinically useful volume that will enable clinicians, patients, and families to understand these disorders and make sound treatment decisions in light of recent research. The editors, as well as most of the chapter authors, are faculty or former trainees at the prestigious Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis, a collaborative international research center committed to the

Sleep and Affect

Sleep and Affect
  • Author : Kimberly Babson,Matthew Feldner
  • Publisher : Academic Press
  • Release : 21 January 2015
GET THIS BOOKSleep and Affect

Sleep and Affect: Assessment, Theory, and Clinical Implications synthesizes affective neuroscience research as it relates to sleep psychology and medicine. Evidence is provided that normal sleep plays an emotional regulatory role in healthy humans. The book investigates interactions of sleep with both negative and positive emotions, along with their clinical implications. Sleep research is discussed from a neurobiological, cognitive, and behavioral approach. Sleep and emotions are explored across the spectrum of mental health from normal mood and sleep to the

Missing Genetic Pieces

Missing Genetic Pieces
  • Author : Sherry Baker-Gomez
  • Publisher : Missing Genetic Pieces
  • Release : 21 January 2022
GET THIS BOOKMissing Genetic Pieces

VCFS is also referred to as Velo Cardio Facial Syndrome, CHARGE Syndrome, Shprintzen Syndrome, DiGeorge Sequence, Pierre Robin Sequence, Potter Sequence.

Genetics of Developmental Disabilities

Genetics of Developmental Disabilities
  • Author : Merlin Butler,F. John Meaney
  • Publisher : CRC Press
  • Release : 13 June 2019
GET THIS BOOKGenetics of Developmental Disabilities

Published in 2005: Genetics of Developmental Disabilities is written as a textbook and resource for physicians, basic and clinical researchers, and other professionals, students, and health care providers. Those interested in the causes and scientific understanding of developmental disabilities.

Congenital Malformation Syndromes

Congenital Malformation Syndromes
  • Author : D. Donnai,Dian Donnai,Robin M. Winter
  • Publisher : CRC Press
  • Release : 04 September 1998
GET THIS BOOKCongenital Malformation Syndromes

This title provides an addition to the study of muliple congenital anomaly syndromes. It consists of a series of in-depth review articles on 73 congenital malformation syndromes covering newly described syndromes along side ones where threre has been significant advances in knowledge recently. Each article focuses on the range of physical and developmental effects of the syndromes history and the underlying biological mechanisms.

Cleft Lip and Palate

Cleft Lip and Palate
  • Author : Martyn T. Cobourne
  • Publisher : Karger Medical and Scientific Publishers
  • Release : 21 January 2022
GET THIS BOOKCleft Lip and Palate

A valuable source of up-to-date information Cleft lip and palate is a complex, multifactorial and relatively common craniofacial disorder, which arises because of disrupted facial development in the embryo. The manifestations of this condition can be life-long and associated with significant morbidity. In the last decade, progress has been made in our understanding of how clefts of the lip and palate arise in human populations, and laboratory studies are beginning to elucidate the molecular mechanisms that control development of the

Inborn Errors of Development

Inborn Errors of Development
  • Author : Charles J. Epstein,Robert P. Erickson,Anthony Joseph Wynshaw-Boris
  • Publisher : Oxford University Press, USA
  • Release : 21 January 2022
GET THIS BOOKInborn Errors of Development

In this book, the clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview. For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counseling, are provided. This book will be an invaluable resource for

Genetic Counseling Practice

Genetic Counseling Practice
  • Author : Bonnie LeRoy
  • Publisher : Unknown Publisher
  • Release : 01 September 2020
GET THIS BOOKGenetic Counseling Practice

"Rapid increases in tests and technologies, media attention, and the expansion of genetic medicine and testing beyond conditions that are exclusively genetic in nature to common chronic illnesses with both genetic and environmental components (e.g., diabetes, heart disease, cancer), have raised demand for genetic counselling services and changing the scope of practice. Genetic counselors help individuals and families understand complex medical information, including diagnosis, prognosis, management options, risk, and heredity issues. They aid patients in decision-making while respecting ethical,

Prospective Memory in Clinical Populations

Prospective Memory in Clinical Populations
  • Author : Sarah A. Raskin
  • Publisher : Routledge
  • Release : 11 September 2020
GET THIS BOOKProspective Memory in Clinical Populations

Prospective memory has emerged as an important aspect of episodic memory. Prospective memory involves remembering to complete a previously formed intention. Successful prospective memory performance is important in daily life tasks such as taking medications or paying bills and has been related to compliance with treatment. Prospective memory has now been studied in many clinical populations as well as across the lifespan. Although prospective memory is recognized as an important aspect of daily life, there has been only limited crossover