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Author: Vincent Brun
Publisher: Elsevier Masson
ISBN: 2994098431
Category : Medical
Languages : fr
Pages : 203
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Book Description
En France, il naît actuellement plus d'un bébé porteur de trisomie 21 par jour. Il faut alors aider les parents à reprendre confiance en eux et à trouver des solutions adaptées à la prise en charge de l'enfant. Des rencontres, des entretiens avec des professionnels ou des associations peuvent contribuer à l'élaboration d'un projet de vie pour l'enfant et apportent un soutien aux familles concernées par ce handicap. Cet ouvrage aborde les problèmes de communication que rencontre l'enfant trisomique: de la perception sensorielle aux problèmes d'audition et de langage, de la motricité orofaciale à la dysphagie. Il s'intéresse également à la scolarisation de ces élèves et à leur insertion dans la vie sociale et fait le point sur leurs droits et les avancées faites dans leur accompagnement au quotidien.
Author: Vincent Brun
Publisher: Elsevier Masson
ISBN: 2994098431
Category : Medical
Languages : fr
Pages : 203
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Book Description
En France, il naît actuellement plus d'un bébé porteur de trisomie 21 par jour. Il faut alors aider les parents à reprendre confiance en eux et à trouver des solutions adaptées à la prise en charge de l'enfant. Des rencontres, des entretiens avec des professionnels ou des associations peuvent contribuer à l'élaboration d'un projet de vie pour l'enfant et apportent un soutien aux familles concernées par ce handicap. Cet ouvrage aborde les problèmes de communication que rencontre l'enfant trisomique: de la perception sensorielle aux problèmes d'audition et de langage, de la motricité orofaciale à la dysphagie. Il s'intéresse également à la scolarisation de ces élèves et à leur insertion dans la vie sociale et fait le point sur leurs droits et les avancées faites dans leur accompagnement au quotidien.
Author: Didier Lacombe
Publisher:
ISBN: 9782294703768
Category : Down syndrome
Languages : fr
Pages : 100
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Book Description
Le point sur les problèmes de communication des enfants trisomiques, de la perception sensorielle aux problèmes d'audition et de langage, de la motricité orofaciale à la dysphagie
Author: G.R. Burgio
Publisher: Springer Science & Business Media
ISBN: 3642680062
Category : Medical
Languages : en
Pages : 265
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Book Description
With contributions by numerous experts
Author: Herman E. Wyandt
Publisher: Springer
ISBN: 9811030359
Category : Medical
Languages : en
Pages : 500
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Book Description
This new edition now titled “Human Chromosome Variation: Heteromorphism, Polymorphism and Pathogenesis” provides the reader with an up-to-date overview of microarrays, fragile sites, copy number variations and whole genome sequencing. Greatly expanding the discussion of microarray analysis in the previous edition of the book, are new chapters on microarray and genomic analysis, plus comprehensive tables on the subtle microdeletions and microduplications that are found on each chromosome, including 235 recurring copy number variants that are associated with well-established or emerging chromosomal syndromes. The current edition features concise information on cytogenetic methods and applications, extending these discussions to DNA analysis and genome sequencing. Sections on euchromatin, heterochromatin, FISH pattern, fragile site, copy number, and DNA sequence variation are integrated with actual clinical examples from cytogenetic laboratories and from clinical practice. The principles that allow for the distinction between benign chromosome / DNA variation and pathogenic heteromorphisms / polymorphisms are discussed and include references to the latest organizational guidelines and genomic or population databases. The two previous incarnations of this book: the ‘Atlas of Human Chromosome Heteromorphism’, and ‘Human Chromosome Variation: Heteromorphism and Polymorphism’ have been standard reference works in most cytogenetic laboratories, used by laboratory directors and clinicians all around the world. While widely used sections from the previous edition on cytogenetic technologies and heteromorphisms are retained intact the present volume adds extensive material on copy number variations (polymorphisms detected by microarray analysis), fragile sites in disease and cancer, and practical views on interpreting emerging technologies, including whole exome sequencing. This book should be of interest to clinicians, technicians and students who are or will be exposed to DNA and/or chromosome analysis and the data derived from these continuously developing techniques. This fully updated book volume will bring the reader up to speed on the latest technologies, their applications, benefits and drawbacks and as such, is a must read for anyone with an interest in DNA and chromosome analysis and the distinction between benign variation and pathogenic mistakes.
Author: Jean-Adolphe Rondal, PhD
Publisher: John Wiley & Sons
ISBN: 9780470319970
Category : Psychology
Languages : en
Pages : 228
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Book Description
Therapies and Rehabilitation in Down Syndrome covers the entire lifespan of a DS patient, from infancy to 60 years and beyond, focusing not simply on identifying problems, but providing a detailed look at major therapeutic approaches. Discussion includes future genetic therapy, questions of quality of life, hormone and other therapies for medical problems, prevention and treatment of normal and pathological aging, as well as psychomotoric rehabilitation. This is an important book not only for scientists concerned with various facets of DS, but practitioners looking for guidelines for therapies and clinical application of research findings.
Author: Andrea Abele
Publisher: Routledge
ISBN: 1351336363
Category : Psychology
Languages : en
Pages : 332
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Book Description
What are the ultimate motives that instigate individuals’ behaviours? What are the aims of social perception? How can an individuals’ behaviour be described both from the perspective of the actor and from the perspective of an observer? These are the basic questions that this book addresses using its proposed agency-communion framework. Agency (competence, assertiveness) refers to existence of an organism as an individual, to "getting ahead" and to individual goal-pursuit; communion (warmth, morality) refers to participation of an individual in a larger organism, to "getting along" and to forming bonds. Each chapter is written by experts in the field and use the agency-communion framework to explore a wide variety of topics, such as stereotypes, self-esteem, personality, power, and politics. The reader will profit from the deep insights given by leading researchers. The variety of theoretical approaches and empirical contributions shows that the parsimonious and simple structure of two types of content in behavior, motives, personality, self-concept, stereotypes, and more to build an overarching frame to different phenomena studied in psychology.
Author: Eeva Therman
Publisher: Springer Science & Business Media
ISBN: 1468401076
Category : Science
Languages : en
Pages : 247
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Book Description
This book provides an introduction to human cytogenetics. It is also suitable for use as a text in a general cytogenetics course, since the basic features of chromosome structure and behavior are shared by all eukar yotes. Because my own background includes plant and animal cytoge netics, many of the examples are taken from organisms other than man. Since the book is written from a cytogeneticist's point of view, human syndromes are described only as illustrations of the effects of abnormal chromosome constitutions on the phenotype. The selection of the phe nomena to be discussed and of the photographs to illustrate them is, in many cases, subjective and arbitrary and is naturally influenced by my interests and the work done in our laboratory. The approach to citations is the exact opposite of that usually used in scientific papers. Whenever possible, the latest and/or most comprehen sive review has been cited, instead of the original publication. Thus the reader is encouraged to delve deeper into any question of interest to him or her. I am greatly indebted to many colleagues for suggestions and criticism. However, my special thanks are due to Dr. JAMES F. CROW, Dr. TRAUTE M. SCHROEDER, and Dr. CARTER DENNISTON for their courage in reading the entire manuscript. I wish to express my gratitude also to the cytogeneticists and editors who have generously permitted the use of published and unpublished photographs.
Author: Steven L. Gersen
Publisher: Springer
ISBN:
Category : Medical
Languages : en
Pages : 580
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Book Description
Enlightening and accessible, The Principles of Clinical Cytogenetics constitutes an indispensable reference for today's physicians who depend on the cytogenetics laboratory for the diagnosis of their patients.
Author:
Publisher:
ISBN:
Category : Medicine
Languages : en
Pages : 1088
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Book Description
Author: J. Schulz-Schaeffer
Publisher: Springer Science & Business Media
ISBN: 1461260604
Category : Science
Languages : en
Pages : 453
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Book Description
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.
