Results 231 to 240 of about 164,173 (286)

Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison   +3 more
wiley   +1 more source

Depression Symptom Trajectories in Mothers With the FMR1 Premutation Vary by CGG Repeat Length: A Longitudinal Study of 73 Women Spanning 20–75 Years of Age

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek   +8 more
wiley   +1 more source

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses   +21 more
wiley   +1 more source

Neuroleukemiosis Masquerading as Drug Toxicity in an Adolescent With Refractory AML

open access: yes
American Journal of Hematology, EarlyView.
Nia Choi   +11 more
wiley   +1 more source

Mental Health First Aid as a tool for improving mental health and well-being [PDF]

open access: yesCochrane Database of Systematic Reviews, 2023
The prevalence of mental health problems is high, and they have a wide-ranging and deleterious effect on many sectors in society. As well as the impact on individuals and families, mental health problems in the workplace negatively affect productivity.
Rachel, Richardson   +6 more
openaire   +3 more sources

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