Results 141 to 150 of about 244,000 (312)

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

Less Restrictive Behavioral Interventions for Sleep Problems in Children with Neurodevelopmental Disorders: A Single Case Feasibility Study [PDF]

, 2022
Emma Woodford, Laurie McLay, Neville M. Blampied, Karyn G. France, Rosina Gibbs, Charis Whitaker, Emma McCaughan   +6 more
openalex   +1 more source

Do Infants at Risk of Developing Cerebral Palsy or Other Neurodevelopmental Disorders Learn What They Practice? [PDF]

, 2020
Kristina Löwing, Linda Holmström, Rita Almeida, Ann‐Christin Eliasson   +3 more
openalex   +1 more source

Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients [PDF]

, 2022
Miral M. Refeat, Walaa El Naggar, Mostafa M. El Saied, Ayman Kilany   +3 more
openalex   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 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, 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

Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies

, 2016
Eglė Preikšaitienė, Laima Ambrozaitytė, Živilė Maldžienė, Aušra Morkūnienė, Loreta Cimbalistienė, Tautvydas Rančelis, Algirdas Utkus, Vaidutis Kučinskas   +7 more
openalex   +2 more sources

Peer Review of “Measuring Integrated Novel Dimensions in Neurodevelopmental and Stress-Related Mental Disorders (MIND-SET): Protocol for a Cross-sectional Comorbidity Study From a Research Domain Criteria Perspective” [PDF]

, 2022
Emma Palmer
openalex   +1 more source

Understanding Youth Assaults of Police Officers in Australia: A Power Threat Meaning Framework Analysis

Australian Journal of Social Issues, EarlyView.
ABSTRACT This study explores youth violence towards police officers in Australia through the Power Threat Meaning Framework (PTMF) to better understand the underlying factors contributing to such violence; focusing on power dynamics, childhood adversity, and trauma.
Dimitra Lattas, Kelly Hine, Catherine Creamer, Kelley Burton, Katelyn Davenport‐Klunder   +4 more
wiley   +1 more source

Vitamin A deficiency triggers colonic methylation potentially impairing colonic neuron via downregulation SGK1/FOXO pathway

Pediatric Discovery
DNA methylation is widely involved in the modification of intestinal function, but the methylation mechanism in the enteric nervous system has not been studied in vitamin A deficiency (VAD).
Bei Tong, Junyan Yan, Zhujun Sun, Ruifang Luo, Fang Lin, Riqiang Hu, Ting Yang, Yuting Wang, Jie Chen   +8 more
doaj   +1 more source