Results 111 to 120 of about 103,359 (288)
, 2014 Large case/control Genome-Wide Association Studies (GWAS) often include groups of related individuals with known relationships. When testing for associations at a given locus, current methods incorporate only the familial relationships between ...
Li, Peng +3 more
core +1 more source
Autism genetics: searching for specificity and convergence. [PDF]
, 2012 Advances in genetics and genomics have improved our understanding of autism spectrum disorders. As many genes have been implicated, we look to points of convergence among these genes across biological systems to better understand and treat these ...
Berg, Jamee M, Geschwind, Daniel H
core +1 more source
Seeking out candidate endophenotypes for OCD. Neurocognitive findings in unaffected relatives.
European Psychiatry, 2007 Background:Obsessive compulsive disorder (OCD) is a highly heritable neuropsychiatric disorder. Attempts to elucidate contributing genes have met with limited success. Intermediate markers of brain dysfunction (cognitive endophenotypes) may help focus the search for genetic contributions.
S.R. Chamberlain +7 more
openaire +1 more source
FEBS Open Bio, EarlyView.Pharmacological inhibition of PERK in a DEN‐induced mouse model of liver cancer does not reduce tumor burden but alters cellular stress signaling. Despite blocking PERK activity, downstream stress responses, including CHOP expression, remain active, suggesting compensatory mechanisms within the unfolded protein response that may influence tumor ...
Ada Lerma‐Clavero +5 more
wiley +1 more source
Women Are More Susceptible to Caries but Individuals Born with Clefts Are Not
International Journal of Dentistry, 2011 The identification of individuals at a higher risk of developing caries is of great interest. Isolated forms of cleft lip and palate are among the most common craniofacial congenital anomalies in humans.
Aditi Jindal +16 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela +13 more
wiley +1 more source
Reduced anti-Müllerian hormone levels in males with inherited bone marrow failure syndromes
Endocrine ConnectionsFanconi anemia (FA), dyskeratosis congenita-related telomere biology disorders (DC/TBD), and Diamond–Blackfan anemia (DBA) are inherited bone marrow failure syndromes (IBMFS) with high risks of bone marrow failure, leukemia, and solid tumors. Individuals
Pamela Stratton +6 more
doaj +1 more source
Early Head Tremor in Essential Tremor: A Case Series and Commentary
Tremor and Other Hyperkinetic Movements, 2017 Background: Classically, the onset of head tremor in essential tremor (ET) patients follows that of hand tremor, such that there is a somatotopic spread of involved areas.
Elan D. Louis +8 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Retrograde trans‐synaptic degeneration (rTSD) from posterior visual pathway lesions in multiple sclerosis (MS) is characterized by hemi‐macular ganglion cell‐inner plexiform layer (GCIPL) thinning and contralateral visual field loss.
Abdul Jaber Tayem +17 more
wiley +1 more source
Frontiers in Neurology, 2015 Background: Adult onset isolated focal dystonia presenting in early adult life is more frequent in men whereas in middle age it is female predominant.
John S. Butler +19 more
doaj +1 more source