Results 151 to 160 of about 230,725 (258)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg +9 more
wiley +1 more source
The Dissemination of Parent-Child Interaction Therapy in West Virginia during the Opioid Epidemic and COVID-19 Pandemic: A Qualitative Study. [PDF]
Int J Environ Res Public Health, 2022 Druskin LR +7 more
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
A Mixed-Methods Study of Clinician Adaptations to Parent-Child Interaction Therapy - What about Culture? [PDF]
Evid Based Pract Child Adolesc Ment Health, 2023 Luis Sanchez BE +3 more
europepmc +1 more source
Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley +1 more source
Parent-Child Interaction Therapy for Children with Disruptive Behaviors and Autism: A Randomized Clinical Trial. [PDF]
J Autism Dev Disord, 2023 Allen K +5 more
europepmc +1 more source
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Women with the FMR1 premutation (PM) are at increased risk for fragile X‐associated conditions (FXPAC), including cognitive and psychiatric features collectively termed fragile X‐associated neuropsychiatric disorders (FXAND). This study is the first to systematically investigate cognitive and psychiatric features in Italian female premutation ...
Federica Alice Maria Montanaro +5 more
wiley +1 more source
Studia Universitatis Moldaviae: Stiinte ale EducatieiThe article is devoted to the study of the role of art therapeutic practices in improving the interaction of parents raising children with cerebral palsy with their children.
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Predicting a Rapid Transition to Telehealth-Delivered Parent-Child Interaction Therapy Amid COVID-19: A Mixed Methods Study. [PDF]
Glob Implement Res Appl, 2022 Rosas YG, Sigal M, Park A, Barnett ML.
europepmc +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan +13 more
wiley +1 more source