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Monographs in Human Genetics
Genetics of Mental Retardation: An Overview Encompassing Learning Disability and Intellectual Disability
Edited by
S.Karger AG
Volume
18
Status:
Available
ISBN electronic:
978-3-8055-9281-9
ISBN print:
978-3-8055-9280-2
Book Series:
Monographs in Human Genetics
Publication date:
2010
Book Details
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 implementation
Genetics 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.
Genetics of Mental Retardation: An Overview Encompassing Learning Disability and Intellectual Disability
Edited by: S.J.L. Knight
https://doi.org/10.1159/isbn.978-3-8055-9281-9
ISBN (print): 978-3-8055-9280-2
ISBN (electronic): 978-3-8055-9281-9
Publisher: S.Karger AG
Published: 2010
Download citation file:
Digital Version
Pay-Per-View Access
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Print Version
Genetics of Mental Retardation
$276.00
Table of Contents
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16 - 30: Mental Retardation: Definition, Classification and EtiologyByR. Regan;R. ReganaUniversity College Dublin, Dublin, Ireland;Search for other works by this author on:L. WillattL. WillattbAddenbrooke’s Hospital, Cambridge, UKSearch for other works by this author on:
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31 - 42: Technological Advances in the Molecular Cytogenetic Diagnosis of Mental Retardation: Telomere Testing and Genome-wide Array AnalysisByE.B. Kaminsky;E.B. KaminskyEmory University, Department of Human Genetics, Atlanta, Ga., USASearch for other works by this author on:C.L. MartinC.L. MartinEmory University, Department of Human Genetics, Atlanta, Ga., USASearch for other works by this author on:
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43 - 56: The Importance of Genome Architecture in Mental RetardationByH.C. MeffordH.C. MeffordDepartment of Pediatrics, Division of Genetic Medicine, and Department of Genome Sciences, University of Washington, Seattle, Wash., USASearch for other works by this author on:
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57 - 66: The Clinical Evaluation of Patients with Mental Retardation/Intellectual DisabilityByC. RomanoC. RomanoI.R.C.C.S. Associazione Oasi Maria Santissima, Troina, ItalySearch for other works by this author on:
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67 - 76: Database Aids for the Evaluation of Mental RetardationByH.V. Firth;H.V. FirthaDepartment of Medical Genetics, Addenbrooke’s Hospital, Cambridge,Search for other works by this author on:N.P. CarterN.P. CarterbWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UKSearch for other works by this author on:
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77 - 88: 3D Shape and Molecular Analyses of Facial Dysmorphology associated with Cognitive ImpairmentByP. Hammond;P. HammondaMolecular Medicine Unit, UCL Institute of Child Health, London,Search for other works by this author on:M. TassabehjiM. TassabehjibGenetic Medicine, University of Manchester, Manchester, UKSearch for other works by this author on:
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89 - 100: Monogenic Causes of Mental RetardationByF.L. RaymondF.L. RaymondCambridge Institute for Medical Research, University of Cambridge, Cambridge, UKSearch for other works by this author on:
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101 - 113: Newly Recognized Mental Retardation Microdeletion/Duplication SyndromesByD.A. Koolen;D.A. KoolenDepartment of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The NetherlandsSearch for other works by this author on:B.B.A. de VriesB.B.A. de VriesDepartment of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The NetherlandsSearch for other works by this author on:
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114 - 125: ‘Mendelian CNVs' Causing Mental Retardation and Developmental DisordersByJ.R. Vermeesch;J.R. VermeeschCentre for Human Genetics, University Hospitals Leuven, Leuven, BelgiumSearch for other works by this author on:T.J.L. de RavelT.J.L. de RavelCentre for Human Genetics, University Hospitals Leuven, Leuven, BelgiumSearch for other works by this author on:
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126 - 136: Genetic Overlaps in Mental Retardation, Autism and SchizophreniaByR.F. Kooy;R.F. KooyDepartment of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, BelgiumSearch for other works by this author on:N. Van der Aa;N. Van der AaDepartment of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, BelgiumSearch for other works by this author on:G. Vandeweyer;G. VandeweyerDepartment of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, BelgiumSearch for other works by this author on:E. Reyniers;E. ReyniersDepartment of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, BelgiumSearch for other works by this author on:L. RoomsL. RoomsDepartment of Medical Genetics, University of Antwerp and University Hospital Antwerp, Antwerp, BelgiumSearch for other works by this author on:
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137 - 150: Chromosome 22q13 Rearrangements Causing Global Developmental Delay and Autistic Spectrum DisorderByM.C. Bonaglia;M.C. BonagliaaEugenio Medea Scientific Institute, Bosisio Parini, Lecco,Search for other works by this author on:R. Giorda;R. GiordaaEugenio Medea Scientific Institute, Bosisio Parini, Lecco,Search for other works by this author on:R. Ciccone;R. CicconebBiologia Generale e Genetica Medica, Università di Pavia, Pavia,Search for other works by this author on:O. ZuffardiO. ZuffardibBiologia Generale e Genetica Medica, Università di Pavia, Pavia,cFondazione IRCCS C Mondino, Pavia, ItalySearch for other works by this author on:
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151 - 161: Translating Genetics Research into a National Health Service Clinical Diagnostic EnvironmentByJ. TaylorJ. TaylorOxford Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, Oxford, UKSearch for other works by this author on:
