Results 101 to 110 of about 70,338 (285)

Drug hypersensitivity caused by alteration of the MHC-presented self-peptide repertoire [PDF]

open access: yes, 2012
Idiosyncratic adverse drug reactions are unpredictable, dose independent and potentially life threatening; this makes them a major factor contributing to the cost and uncertainty of drug development. Clinical data suggest that many such reactions involve
A. Lucas   +47 more
core   +4 more sources

Altered Brain Structure in an ATRX‐Deficient Mouse Model of Autism Spectrum Disorder

open access: yesAutism Research, EarlyView.
ABSTRACT Mutations in the ATRX gene are a primary cause of alpha‐thalassemia intellectual disability X‐linked (ATRX) syndrome, which is characterized by intellectual disability, autism, and a range of brain structural abnormalities, including microcephaly.
Katherine Quesnel   +3 more
wiley   +1 more source

Microcephaly [PDF]

open access: yesCurrent Biology, 2014
Woods, C.G., Basto, R.
openaire   +3 more sources

The E3 Ubiquitin Ligase UBE3B Regulates Synaptic Development and Cortical Network Activity

open access: yesAutism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impaired communication, abnormal social interactions, and restricted, repetitive behaviors. Pathogenic mutations in UBE3B result in neurodevelopmental disease, including intellectual disability, lack of speech, and ASD.
Shayal Vashisth   +7 more
wiley   +1 more source

The association between Zika virus infection and microcephaly in Brazil 2015-2017: An observational analysis of over 4 million births.

open access: yesPLoS Medicine, 2019
BackgroundIn 2015, high rates of microcephaly were reported in Northeast Brazil following the first South American Zika virus (ZIKV) outbreak. Reported microcephaly rates in other Zika-affected areas were significantly lower, suggesting alternate causes ...
Oliver J Brady   +18 more
doaj   +1 more source

Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly

open access: yesBMC Neurology, 2011
Background Autosomal recessive primary microcephaly is a disorder of neurogenic mitosis that causes reduction in brain size. It is a rare heterogeneous condition with seven causative genes reported to date.
Mir Asif   +7 more
doaj   +1 more source

Role of fetal MRI in the evaluation of isolated and non-isolated corpus callosum dysgenesis: results of a cross-sectional study [PDF]

open access: yes, 2017
PURPOSE: The aims of this study were to characterize isolated and non-isolated forms of corpus callosum dysgenesis (CCD) at fetal magnetic resonance imaging (MRI) and to identify early predictors of associated anomalies.
Antonelli, Amanda   +11 more
core   +1 more source

Identification of novel genes regulating the development of the palate

open access: yesDevelopmental Dynamics, EarlyView.
Abstract Background The International Mouse Phenotyping Consortium (IMPC) has generated thousands of knockout mouse lines, many of which exhibit embryonic or perinatal lethality. Using micro‐computed tomography (micro‐CT), the IMPC has created and publicly released three‐dimensional image data sets of embryos from these lethal and subviable lines.
Ashwin Bhaskar, Sophie Astrof
wiley   +1 more source

Mechanisms of Zika virus infection and neuropathogenesis [PDF]

open access: yes, 2016
A spotlight has been focused on the mosquito-borne Zika virus (ZIKV) because of its epidemic outbreak in Brazil and Latin America, as well as the severe neurological manifestations of microcephaly and Guillain–Barré syndrome associated with infection. In
Coyne, Carolyn B   +4 more
core   +2 more sources

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