Results 181 to 190 of about 1,033,771 (354)

A community‐driven approach to address substance use and create a Great Plains American Indian addiction and recovery research agenda

open access: yesAmerican Journal of Community Psychology, EarlyView.
Abstract Substance use, specifically opioid and methamphetamine use, is of increasing concern among American Indian (AI) populations in the Great Plains. This community‐driven participatory study investigated the impacts of substance use and community‐defined needs in treating addiction.
Brynn Luger   +8 more
wiley   +1 more source

Epilepsy risk in offspring of affected parents; a cohort study of the "maternal effect" in epilepsy. [PDF]

open access: yesAnn Clin Transl Neurol, 2021
Dreier JW   +5 more
europepmc   +1 more source

Relative Exchangeable Copper Confirms Wilson Disease and Supports Reclassification of the ATP7B p.Met665Ile Variant With Conflicting Pathogenicity Evidence

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro   +10 more
wiley   +1 more source

DNA Methylation Dynamics in the Female Germline and Maternal-Effect Mutations That Disrupt Genomic Imprinting. [PDF]

open access: yesGenes (Basel), 2021
Anvar Z   +5 more
europepmc   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio   +16 more
wiley   +1 more source

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