Results 181 to 190 of about 1,302,226 (351)

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun   +2 more
wiley   +1 more source

Smartphone automated motor and speech analysis for early detection of Alzheimer's disease and Parkinson's disease: Validation of TapTalk across 20 different devices

open access: yesAlzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring
INTRODUCTION Smartphones are proving useful in assessing movement and speech function in Alzheimer's disease and other neurodegenerative conditions. Valid outcomes across different smartphones are needed before population‐level tests are deployed.
Renjie Li   +12 more
doaj   +1 more source

The Role of SLC39A8.p.(Ala391Thr) in Schizophrenia Symptom Severity and Cognitive Ability: Cross‐Sectional Studies of Schizophrenia and the General UK Population

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The missense SNP NC_000004.12:g.102267552C>T (also known as SLC39A8.p.(Ala391Thr), rs13107325) in SLC39A8 encodes a zinc transporter. This SNP has been linked to schizophrenia and is the likely causal variant for one of the genome‐wide association loci associated with the disorder. Using regression analyses, we tested whether the schizophrenia‐
Sophie E. Smart   +12 more
wiley   +1 more source

Diagnosis and management of dementia with Lewy bodies

open access: yesNeurology, 2005
I. McKeith   +45 more
semanticscholar   +1 more source

The Multifaceted Etiology of Mental Disorders With a Focus on Trace Elements, a Review of Recent Literature

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Mental disorders are a significant global public health concern, affecting nearly one in eight individuals worldwide. This review investigates the multifaceted etiology of mental disorders—specifically major depressive disorder (MDD), schizophrenia (SCZ), and bipolar disorder (BD)—through genetic, neurobiological, and environmental ...
Maria Francesca Astorino   +8 more
wiley   +1 more source

“That grey area where no one can help”: The experience of younger people avoiding or leaving residential aged care who are not NDIS participants

open access: yesAustralian Journal of Social Issues, EarlyView.
Abstract Living in residential aged care (RAC) can have deleterious effects on the health, well‐being and social participation of younger people (<65 years of age). This research examined the barriers and enablers to leaving or avoiding RAC for Australian younger people who are not National Disability Insurance Scheme (NDIS) participants. It reports on
Barrie Shannon   +3 more
wiley   +1 more source

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