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Book
Atlas of X-linked intellectual disability syndromes
Authors: --- ---
ISBN: 0199975248 0199811865 9780199811861 9780199811793 0199811792 Year: 2012 Publisher: New York : Oxford University Press,

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Abstract

The Atlas of X-Linked Intellectual Disability Syndromes is a comprehensive and up-to-date summary of the clinically distinctive disorders caused by genes on the X chromosome. Clinical and laboratory data on 150 syndromes are presented in a concise and consistent manner. Each syndrome is defined and information is provided on somatic features, growth and development, neurological signs, cognitive performance, imaging and other laboratory findings, and when possible, the nature and localization of the responsible gene. Craniofacial and other somatic findings are extensively illustrated. A differ


Book
Modeling fragile X syndrome
Author:
ISBN: 364221648X 9786613449191 1283449196 3642216498 Year: 2012 Publisher: Dordrecht ; New York : Springer,

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Abstract

The present book is an in-depth synopsis of recent advances in the fragile X field. The fragile X syndrome (FXS) is the most common form of inherited mental retardation, and the molecular-genetic basis of this syndrome has been the subject of extensive experimental scrutiny over the last two decades. This book covers the spectrum of current FXS research, ranging from Drosophila model systems via mouse models to clinical and psychiatric aspects. The volume also provides updates on FXS-related diseases such as the fragile X-associated tremor/ataxia syndrome. Significant progress in recent years, as highlighted here by some of the most eminent researchers in the field, are grounds for optimism that successful therapeutical approaches may be feasible in the not too distant future.

Keywords

Fragile X syndrome. --- Fragile X syndrome -- Animal models. --- Fragile X syndrome --- Mental Retardation, X-Linked --- Sex Chromosome Disorders --- Investigative Techniques --- Chromosome Disorders --- Mental Retardation --- Analytical, Diagnostic and Therapeutic Techniques and Equipment --- Genetic Diseases, X-Linked --- Heredodegenerative Disorders, Nervous System --- Neurobehavioral Manifestations --- Genetic Diseases, Inborn --- Congenital Abnormalities --- Congenital, Hereditary, and Neonatal Diseases and Abnormalities --- Neurologic Manifestations --- Nervous System Diseases --- Diseases --- Fragile X Syndrome --- Models, Animal --- Medicine --- Biology --- Health & Biological Sciences --- Pediatrics --- Cytology --- Animal models --- X-linked mental retardation. --- XLMR (Disease) --- fra(X) syndrome --- Life sciences. --- Human genetics. --- Gene therapy. --- Molecular biology. --- Cell biology. --- Stem cells. --- Neurobiology. --- Life Sciences. --- Cell Biology. --- Human Genetics. --- Molecular Medicine. --- Stem Cells. --- Gene Therapy. --- Intellectual disability --- X chromosome --- Syndromes --- X-linked mental retardation --- Abnormalities --- Cytology. --- Medicine. --- Therapy, Gene --- Genetic engineering --- Therapeutics --- Colony-forming units (Cells) --- Mother cells --- Progenitor cells --- Cells --- Neurosciences --- Clinical sciences --- Medical profession --- Human biology --- Life sciences --- Medical sciences --- Pathology --- Physicians --- Genetics --- Heredity, Human --- Physical anthropology --- Cell biology --- Cellular biology --- Cytologists --- Health Workforce --- Molecular biochemistry --- Molecular biophysics --- Biochemistry --- Biophysics --- Biomolecules --- Systems biology --- Medical genetics. --- Neurosciences. --- Medical Genetics. --- Biomedical Research. --- Neuroscience. --- Stem Cell Biology. --- Clinical Genetics. --- Research. --- Neural sciences --- Neurological sciences --- Neuroscience --- Nervous system --- Biological research --- Biomedical research --- Clinical genetics --- Heredity of disease --- Human genetics --- Genetic disorders --- Genetic aspects

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