Genomic 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 disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

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  • Author : James R. Lupski
  • Publisher : Springer Science & Business Media
  • Pages : 426 pages
  • ISBN : 1597450391
  • Rating : 4/5 from 21 reviews
CLICK HERE TO GET THIS BOOKGenomic Disorders

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

Childhood panic disorder

Childhood panic disorder
  • Author : Sics Editore
  • Publisher : SICS Editore
  • Release : 01 October 2014
GET THIS BOOKChildhood panic disorder

If a child has inexplicable somatic symptoms that fit those of panic disorder, consultation with a child psychiatrist is imperative. An early as possible diagnosis is essential to prevent the child from adopting a role of illness within the family or larger social network. An early diagnosis supports the development of the child’s personality.

Etiology and Morphogenesis of Congenital Heart Disease

Etiology and Morphogenesis of Congenital Heart Disease
  • Author : Edward Clark,Atsuyoshi Takao,Makoto Nakazawa
  • Publisher : Wiley-Blackwell
  • Release : 27 December 2000
GET THIS BOOKEtiology and Morphogenesis of Congenital Heart Disease

This book discusses past and present research on the etiology and morphogenesis of congenital heart disease, from the molecular level of genotype to the outward physical manifestation of the patient's symptoms. In eight main sections and 67 chapters, the genetic, symmetry and molecular interaction of the early stages of heart formation are described: structural formation and external factors affecting form and function are explored and specific syndromes are analyzed.

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

Psychiatric Genetics

Psychiatric Genetics
  • Author : Jordan W. Smoller,Beth Rosen Sheidley,Ming T. Tsuang
  • Publisher : American Psychiatric Pub
  • Release : 18 January 2021
GET THIS BOOKPsychiatric Genetics

"The book first presents a framework for understanding and critically evaluating psychiatric genetic research literature, then provides guidelines for genetic counseling. Subsequent chapters summarize genetic aspects of major psychiatric conditions - as well as neuropsychiatric manifestations of other genetic disorders. Risk/benefit considerations related to medication use during pregnancy are then presented. Coverage of ethical, legal, and social implications illustrates the dilemmas that arise with advances in genetic research. Whether used as a clinical guide, reference, or ancillary text, Psychiatric

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.

Health Care for People with Intellectual and Developmental Disabilities across the Lifespan

Health Care for People with Intellectual and Developmental Disabilities across the Lifespan
  • Author : I. Leslie Rubin,Joav Merrick,Donald E. Greydanus,Dilip R. Patel
  • Publisher : Springer
  • Release : 25 April 2016
GET THIS BOOKHealth Care for People with Intellectual and Developmental Disabilities across the Lifespan

This book provides a broad overview of quality health care for people with intellectual and developmental disabilities (IDD). It focuses on providing the reader a practical approach to dealing with the health and well-being of people with IDD in general terms as well as in dealing with specific conditions. In addition, it offers the reader a perspective from many different points of view in the health care delivery system as well as in different parts of the world. This is

Human Chromosomes

Human Chromosomes
  • Author : Orlando J. Miller,Eeva Therman
  • Publisher : Springer Science & Business Media
  • Release : 28 June 2011
GET THIS BOOKHuman Chromosomes

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

Autism and Other Neurodevelopmental Disorders

Autism and Other Neurodevelopmental Disorders
  • Author : Robin L. Hansen,Sally J. Rogers
  • Publisher : American Psychiatric Pub
  • Release : 18 January 2021
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

Pediatric Immunology

Pediatric Immunology
  • Author : Nima Rezaei
  • Publisher : Springer Nature
  • Release : 08 October 2019
GET THIS BOOKPediatric Immunology

This book comprises a collection of categorized case-based questions, directed and meticulously selected to cover the most common and most important aspects of immunodeficiency diseases. Immunodeficiency disorders of infancy and childhood such as antibody deficiencies, phagocyte defects and defects in innate immunity are addressed among others. Each chapters starts with a brief of the initial presentation and lab data of the patient, followed by a series of 5-6 multiple choice questions (MCQs), leading the reader to the diagnosis and best

Development of executive function during childhood

Development of executive function during childhood
  • Author : Yusuke Moriguchi,Philip D Zelazo,Nicolas Chevalier
  • Publisher : Frontiers Media SA
  • Release : 01 April 2016
GET THIS BOOKDevelopment of executive function during childhood

Executive function refers to the goal-oriented regulation of one’s own thoughts, actions, and emotions. Its importance is attested by its contribution to the development of other cognitive skills (e.g., theory of mind), social abilities (e.g., peer interactions), and academic achievement (e.g., mathematics), and by the consequences of deficits in executive function (which are observed in wide range of developmental disorders, such as attention-deficit hyperactivity disorder and autism). Over the last decade, there have been growing interest

Missing Genetic Pieces

Missing Genetic Pieces
  • Author : Sherry Baker-Gomez
  • Publisher : Missing Genetic Pieces
  • Release : 18 January 2021
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.

Thymus Gland Pathology

Thymus Gland Pathology
  • Author : Corrado Lavini,Cesar A. Moran,Uliano Morandi,Rudolf Schoenhuber
  • Publisher : Springer Science & Business Media
  • Release : 08 May 2009
GET THIS BOOKThymus Gland Pathology

The thymus is a gland that over the last two centuries has generated great awareness not only from the anatomical perspective but also for the physiological and pat- logical roles it plays in many disease processes. Prior to the early studies on its th anatomy and physiology in the 18 century, the thymus was believed to perform - usual and curious functions such as purification of the nervous system, providing a protective cushion for the vasculature of the superior mediastinum, fetal

Developmental Disabilities

Developmental Disabilities
  • Author : Ahmad Salehi
  • Publisher : BoD – Books on Demand
  • Release : 10 July 2013
GET THIS BOOKDevelopmental Disabilities

Although various developmental disabilities affecting children and adults might have different pathogeneses, underlying mechanisms, and clinical presentations, the current books emphasizes the fact that there are numerous commonalities in methods of understanding, clinical diagnosis, and handling of behavioral abnormalities in affected individuals. For instance, understanding sexual maturation and its consequences in people with intellectual disability would certainly present a path to better understanding of the differences with controls and more effective handling of the unwanted consequences in people affected.