Velo-Cardio-Facial Syndrome: A Model for Understanding Microdeletion Disorders
Editat de Kieran C. Murphy, Peter J. Scambleren Limba Engleză Paperback – 22 dec 2010
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Specificații
ISBN-13: 9780521184328
ISBN-10: 0521184320
Pagini: 258
Dimensiuni: 170 x 244 x 14 mm
Greutate: 0.36 kg
Editura: Cambridge University Press
Colecția Cambridge University Press
Locul publicării:Cambridge, United Kingdom
ISBN-10: 0521184320
Pagini: 258
Dimensiuni: 170 x 244 x 14 mm
Greutate: 0.36 kg
Editura: Cambridge University Press
Colecția Cambridge University Press
Locul publicării:Cambridge, United Kingdom
Cuprins
1. Historical overview Robert J. Shprintzen; 2. Molecular genetics of Velo-cardio-facial syndrome Peter Scambler; 3. Congenital cardiovascular disease and Velo-cardio-facial syndrome Bruno Marino, Federica Mileto, Maria Cristina Digilio, Adriano Carotti and Robert Di Donato; 4. Palatal anomalies and velopharyngeal dysfunction associated with Velo-cardio-facial syndrome Richard E. Kirschner; 5. Nephro-urologic, gastrointestinal and opthamic findings Koen Devriendt, Nathalie Rommel and Ingele Casteels; 6. Immunodeficiency in Velo-cardio-facial syndrome Kathleen E. Sullivan; 7. Behavioural and psychiatric disorder in Velo-cardio-facial syndrome Angela F. Stevens and Kieran C. Murphy; 8. The cognitive spectrum in individuals with Velo-cardio-facial syndrome Linda Campbell and Ann Swillen; 9. Neuroimaging in Velo-cardio-facial syndrome Stephan Eliez and Therese van Amelsvoort; 10. Speech language disorders Karen J. Golding-Kushner; 11. Genetic counseling Donna M. McDonald-McGinn and Elaine H. Zackai; 12. Family issues Julie Squair.
Recenzii
Review of the hardback: 'This is a wonderful, highly specialized tool for clinicians in general. It is a great source for multiple specialities (pediatric cardiology, ENT, medical genetics, etc.). The work presented here is unique, with no other similar books in the market. The integration of the different aspects of VCFS makes this a great instrument for multidisciplinary teams.' Doody's Book Review Service
Review of the hardback: '… this book is a valuable trove of information for professionals and parents alike, and one that can be referred to for up-to-date information on all aspects of the syndrome. It is extremely detailed, yet clear, and some of the more difficult concepts are explained in a very comprehensible way.' Psychological Medicine
Review of the hardback: 'Clinicians and scientists of different disciplines will all enjoy and benefit from reading this book.' Journal of Human Genetics
Review of the hardback: 'The strength of this book lies in the depth of the clinical information. … clinicians, carers and parents will view this collection of clinical reviews as something of a treasure trove. The chapters are all well written, concise and informed. …definitely a book for the clinical library …' Human Genetics
Review of the hardback: '… this book is a valuable trove of information for professionals and parents alike, and one that can be referred to for up-to-date information on all aspects of the syndrome. It is extremely detailed, yet clear, and some of the more difficult concepts are explained in a very comprehensible way.' Psychological Medicine
Review of the hardback: 'Clinicians and scientists of different disciplines will all enjoy and benefit from reading this book.' Journal of Human Genetics
Review of the hardback: 'The strength of this book lies in the depth of the clinical information. … clinicians, carers and parents will view this collection of clinical reviews as something of a treasure trove. The chapters are all well written, concise and informed. …definitely a book for the clinical library …' Human Genetics
Descriere
A definitive 2005 text describing the diagnosis, treatment and molecular biology of Velo-cardio-facial Syndrome.