| Description |
1 online resource |
| Series |
Monographs in human genetics, 0077-0876 ; v. 18 |
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Monographs in human genetics ; v. 18.
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| Contents |
A parent's perspective / Gregory, J.P. -- Mental retardation : definition, classification, and etiology / Regan, R., Willatt, L. -- Technological advances in the molecular cytogenetic diagnosis of mental retardation : telomere testing and genome-wide array analysis / Kaminsky, E.B., Martin, C.L -- The importance of genome architecture in mental retardation / Mefford, H.C -- The clinical evaluation of patients with mental retardation/intellectual disability / Romano, C. -- Database aids for the evaluation of mental retardation / Firth, H.V. Carter, N.P. -- 3D shape and molecular analyses of facial dysmorphology associated with cognitive impairment / Hammond, P., Tassabehji, M. -- Monogenic causes of mental retardation / Raymond, F.L. -- Newly recognized mental retardation microdeletion/duplication syndromes -- Koolen, D.A., de Vries, B.B.A. -- Mendelian CNVs causing mental retardation and developmental disorders -- Vermeesch, J.R., de Ravel, T.J.L. -- Genetic overlaps in mental retardation, autism, and schizophrenia / Kooy, R.F. [and others] -- Chromosome 22q13 rearrangements causing global developmental delay and autistic spectrum Disorder / Bonaglia, M.C. [and others] -- Translating genetics research into a national health service clinical diagnostic environment / Taylor, J |
| Summary |
This remarkable publication focuses on the importance of genetics in mental retardation, investigating the extent to which molecular diagnostic capability and the understanding of genetic causes have improved over recent years. As a result, clinical evaluation and diagnostic laboratory practice are now undergoing an unprecedented period of change. In a single volume, a unique combination of key individuals and world-class clinical, diagnostic and research-based experts share specialized, state-of the-art knowledge in this field. The parents' perspective lies behind chapters dealing with issues such as:- Classification nomenclature- Well-known syndromes- How modern technologies have resulted in newly identified syndromes- How genome architecture can influence disease- Guidelines for clinical evaluation- Valuable database resources for clinical, diagnostic and research departments- Challenges involved in data interpretation and determining clinical relevance- Genetic overlaps with autism and schizophrenia- Processes of health service implementationGenetics of Mental Retardation is an invaluable resource for researchers and students with an active interest in the field. Furthermore, consultants and trainees in clinical genetics and pediatrics, and researchers working in clinical genetics laboratories will benefit from these reviews |
| Bibliography |
Includes bibliographical references and indexes |
| Subject |
Intellectual disability -- Genetic aspects
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Intellectual Disability -- genetics
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Learning Disabilities -- genetics
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HEALTH & FITNESS -- Diseases -- General.
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MEDICAL -- Clinical Medicine.
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MEDICAL -- Diseases.
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MEDICAL -- Evidence-Based Medicine.
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MEDICAL -- Internal Medicine.
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Intellectual disability -- Genetic aspects
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| Form |
Electronic book
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| Author |
Knight, Samantha J. L.
|
| ISBN |
9783805592819 |
|
3805592817 |
|
3805592809 |
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9783805592802 |
|
