Clinical genetic microarray testing; ASD neuropathology
نویسندگان
چکیده
منابع مشابه
Clinical Genetic Aspects of ASD Spectrum Disorders.
Early presumptions opined that autism spectrum disorder (ASD) was related to the rearing of these children by emotionally-distant mothers. Advances in the 1960s and 1970s clearly demonstrated the biologic basis of autism with a high heritability. Recent advances have demonstrated that specific etiologic factors in autism spectrum disorders can be identified in 30%-40% of cases. Based on early r...
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Activating mutations of the serine threonine kinase v-RAF murine sarcoma viral oncogene homologue B1 (BRAF), most commonly of the V600E type, are found in a wide range of human neoplasms including primary and secondary brain tumors. Therapeutic BRAF inhibitors have shown clinically meaningful activity, particularly in metastatic BRAF V600E mutated melanoma including patients with brain metastas...
متن کاملClinical Neuroscience and Neuropathology
Department of Psychology, Columbia University, New York, NY 10027; Behavioral and Evolutionary Neuroscience Laboratory, Alaskan Basic Neuroscience Program, Institute of Arctic Biology, University of Alaska Fairbanks, P.O. Box 757000, Fairbanks, AK 99775; Department of Psychology, Barnard College, New York, NY 10027; Department of Anatomy and Cell Biology, College of Physicians and Surgeons, Col...
متن کاملClinical Neuroscience and Neuropathology
DNA methylation is important for controlling gene expression and is catalyzed by DNA methyltransferase (Dnmt1) an enzyme abundant in brain. We recently demonstrated that mice expressing reduced levels of Dnmt1 are protected from cerebral ischemia. Here, we used the cre/loxP system to produce conditional mutants that lack Dnmt 1 in postmitotic neurons of the postnatal brain. We demonstrate that ...
متن کاملGenetic neuropathology of Parkinson's disease.
Parkinson's disease (PD) has long been considered to be a sporadic entity, perhaps with an environmental etiology. However, recent genetic discoveries have challenged this view, as there are many families with diseases of Mendelian inheritance that clinically resemble PD. Here, we will review in detail the neuropathological data relating to familial cases of PD. We will discuss the complicated ...
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ژورنال
عنوان ژورنال: Autism Research
سال: 2010
ISSN: 1939-3792,1939-3806
DOI: 10.1002/aur.140