Results 121 to 130 of about 57,921 (256)

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, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Latinas in the Kitchen: The Rhetoric of Food and Desire [PDF]

, 2008
: Even though the commodification of women by linking them erotically to food has been accepted for decades and used by women themselves to manipulate men and their desires, this has, in turn, led to behavioral and psychological problems.
Kessler, Elizabeth
core   +1 more source

Examining the Impact of Domestic and Family Violence on Young Australians’ School‐Level Education

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australian policy and practice increasingly acknowledges the need to respond to children as victim‐survivors of domestic and family violence (DFV) in their own right. As part of this, and in recognition that schools often have the most consistent contact with young people experiencing DFV, there is mounting recognition of the role education ...
Rebecca Stewart, Kate Fitz‐Gibbon, Steven Roberts   +2 more
wiley   +1 more source

Systematic review of interventions for the secondary prevention and treatment of emotional abuse of children by primary carers [PDF]

, 2008
Background Emotional abuse (or psychological maltreatment, as it is more commonly called in the US) is an inadequately researched and poorly understood concept, despite increasing awareness about the harm it can cause to children‟s lives.
Barlow, Jane, Carter, Yvonne, McMillan, Anita Schrader, Paul, Moli, Sidebotham, Peter, Stewart-Brown, Sarah L.   +5 more
core  

National Disability Insurance Scheme and Quality of Life Among Carers of Children With Autism Spectrum Disorder in Australia: A Thematic Analysis

Australian Journal of Social Issues, EarlyView.
ABSTRACT Diagnoses of autism spectrum disorder in Australia have increased considerably in recent years. The current study investigated how the National Disability Insurance Scheme (NDIS) impacts quality of life (QoL) among carers of children with autism spectrum disorder.
Jesse Gerhard, Sharon L. Grant
wiley   +1 more source

Co‐Opting MBNL‐Dependent Alternative Splicing Cassette Exons to Control Gene Therapy in Myotonic Dystrophy

Annals of Neurology, EarlyView.
Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell, Ellie M. Carrell, Ryan Giovenco, Beverly L. Davidson   +3 more
wiley   +1 more source

A Growth Chart for KBG Syndrome

American Journal of Medical Genetics Part A, EarlyView.
Karen J. Low, Elena Martinez‐Cayuelas, Berta Almoguera, Purin Marin‐Reina, Allan Bayat, Charlotte W. Ockeloen, Tim J. Cole   +6 more
wiley   +1 more source

A critical reappraisal of the carotid sinus and carotid bulb: Distinguishing neurohistological function from vascular geometry

The Anatomical Record, EarlyView.
This review redefines the carotid bulb (CB) as a variable geometric dilation shaped by hemodynamics and the carotid sinus (CS) as a conserved neurohistological baroreceptor field. Distinguishing these entities clarifies a century of anatomical confusion and links geometry, neurohistology, and clinical interpretation within a unified framework ...
Răzvan Costin Tudose, Nicolae Radu, Mugurel Constantin Rusu   +2 more
wiley   +1 more source

Mismatching Expressions: Spatiotemporal and Kinematic Differences in Autistic and Non‐Autistic Facial Expressions

Autism Research, EarlyView.
ABSTRACT Preliminary studies suggest there are differences in the facial expressions produced by autistic and non‐autistic individuals. However, it is unclear what specifically is different, whether such differences remain after controlling for facial morphology and alexithymia, and whether production differences relate to perception differences ...
Connor T. Keating, Sophie Sowden‐Carvalho, Holly O′Donoghue, Jennifer L. Cook   +3 more
wiley   +1 more source

The Conceptualization, Experience, and Recognition of Emotion in Autism: Differences in the Psychological Mechanisms Involved in Autistic and Non‐Autistic Emotion Recognition

Autism Research, EarlyView.
ABSTRACT Existing literature suggests that differences between autistic and non‐autistic people in emotion recognition might be related to differences in how these groups experience emotions themselves. Specifically, autistic individuals may show differences in the consistency of emotional experiences, the ability to distinguish between emotions, and ...
Connor Tom Keating, Carmen Kraaijkamp, Jennifer Louise Cook   +2 more
wiley   +1 more source