Results 101 to 110 of about 92,950 (263)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr +7 more
wiley +1 more source
Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir +6 more
wiley +1 more source
Acetylene Semi‐Hydrogenation by Photocatalysis
Angewandte Chemie, EarlyView.Photocatalytic acetylene semi‐hydrogenation is an emerging light‐driven route to polymer‐grade ethylene, offering a mild alternative to energy‐intensive thermocatalysis. By replacing H2 co‐feed with water or other proton sources, these systems can achieve high selectivity under ambient conditions.
Anna Fortunato +6 more
wiley +2 more sources
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT This reflective essay explores how collaborative work between researchers and adults living with Arthrogryposis Multiplex Congenita (AMC) has deepened and broadened our understanding of what it means to live with this rare condition. By intentionally integrating the lived experiences of individuals with AMC into research processes, the ...
Bonita J. Sawatzky +3 more
wiley +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
The Insistence of Blackness and the Persistence of Antiblackness in Ireland
Australian Journal of Social Issues, EarlyView.ABSTRACT This paper positions Ireland as a critical site for examining the insistence of blackness and an antiblackness created and sustained through Irish ethnonationalist imaginaries and exclusionary processes. Drawing on connected sociologies and Irish Black Studies, this enquiry argues that antiblackness in Ireland operates as a generational force,
Philomena Mullen
wiley +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington +2 more
wiley +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT Robust measurement of disadvantage is essential to identifying and addressing inequities in children's development. We tested how a multidimensional framework of child disadvantage performed relative to a traditional socioeconomic position (SEP) approach to predict developmental outcomes.
Wei Hong +7 more
wiley +1 more source
‘Shelter is a Dignity’: Rental Racism, Stress and Housing (In)justice
Australian Journal of Social Issues, EarlyView.ABSTRACT Australia's private rental sector is in crisis, and culturally and racially minoritised renters face compounded harms through both covert and everyday direct forms of rental racism. Drawing on five community‐based focus groups in Melbourne (n = 37), the paper explores how racism manifests across the rental pathway and how it structures the ...
Erika Martino +3 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.D‐limonene supplementation enhances testicular recovery following orchiopexy in a rat model of bilateral cryptorchidism. Treatment with D‐limonene reduces oxidative stress (↓MDA, ↑SOD, ↑GPx, ↑TAC), downregulates pro‐apoptotic proteins (↓TNF‐α, ↓BAX, ↓Caspase‐3), and upregulates anti‐apoptotic Bcl‐2 expression.
Arman Norouzi‐Ghalehbala +6 more
wiley +1 more source