American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan +4 more
wiley +1 more source
Amplifying walking activity in Parkinson's disease through autonomous music-based rhythmic auditory stimulation: randomized controlled trial. [PDF]
NPJ Parkinsons DisPorciuncula F +9 more
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gaucher disease (GD) is a rare lysosomal storage disorder characterized by multisystemic involvement. With the advent of enzyme replacement therapy (ERT), patient survival has improved, revealing new long‐term complications. We report a case of a 4‐year‐old male with severe neurovisceral GD who developed protein‐losing enteropathy (PLE ...
Vincenza Gragnaniello +7 more
wiley +1 more source
<i>Synotislhozhagensis</i> (Asteraceae, Senecioneae), a new species from south-eastern Xizang, China, based on morphological and molecular evidence. [PDF]
PhytoKeysPeng GX +6 more
europepmc +1 more source
Genomic Analysis of Trichotillomania
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Trichotillomania (TTM) is a psychiatric condition in which people feel an overwhelming urge to pull out their hair, resulting in noticeable hair loss and significant distress. Twin and family studies suggest that TTM is at least partly genetic, but no genome‐wide analyses have been completed.
Matthew W. Halvorsen +4 more
wiley +1 more source
Attribution of colorectal cancer symptoms to medications for pre-existing chronic conditions: a secondary analysis of a vignette study in England. [PDF]
J Public Health (Oxf)Ricciardi GE +7 more
europepmc +1 more source
American 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
Evaluation and Correlation of 17β-Estradiol in Blood and Estrogen Receptor α (ERα) and Estrogen Receptor β(ER β) in Tissue of Oral Squamous Cell Carcinoma. [PDF]
Asian Pac J Cancer PrevThakare E +4 more
europepmc +1 more source
Health behaviours and affective states of partners of fly‐in fly‐out workers: A daily diary study
Australian Journal of Social Issues, EarlyView.Abstract Partners of fly‐in fly‐out (FIFO) workers face increases in demands, for instance in care and family responsibilities, particularly in the absence of workers; however, little is known about how their daily life experiences influence their health across the FIFO work cycle.
Bernard Kwadwo Yeboah Asiamah‐Asare +3 more
wiley +1 more source