Results 141 to 150 of about 2,583 (217)

Collaborating with transnational families: Learning from the experiences of family caretakers, educators, psychologists, and spiritual leaders in Honduras

open access: yesAmerican Journal of Community Psychology, EarlyView.
Abstract This manuscript centers on the experiences of caretakers of minors in Honduran transnational families (TNFs) in which one or both parents emigrated, and of the schoolteachers, professional psychologists, and spiritual leaders working with these families.
Marco Gemignani   +2 more
wiley   +1 more source

Implementation of Youth Empowerment Services (YES) juvenile justice diversion program: A first‐person account

open access: yesAmerican Journal of Community Psychology, EarlyView.
Abstract In Santa Barbara County, the Youth Empowerment Services (YES) Program brought together several government and community‐based organizations, as well as a university‐based evaluation team, to provide pre‐adjudication diversion to youth ages 12 to 17.
Angela Pollard   +7 more
wiley   +1 more source

Help‐Seeking and Substance Use Among Police Staff After the 2018 Strasbourg Christmas Market Attack

open access: yesAmerican Journal of Industrial Medicine, EarlyView.
ABSTRACT Background The use of mental health services by police staff is usually low. After the 2018 attack on the Strasbourg Christmas market, police officers exposed to psychotraumatic risks were found to have a higher PTSD risk. This study aims to describe the help‐seeking and substance use by police staff after the attack.
Nathalie Nourry   +7 more
wiley   +1 more source

The 9th International RASopathies Symposium

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel   +41 more
wiley   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

open access: yesAmerican 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

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

open access: yesAmerican 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

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 more
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco   +6 more
wiley   +1 more source

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