Results 111 to 120 of about 39,746 (275)

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

A Mouse Mutation That Dysregulates Neighboring Galnt17 and Auts2 Genes Is Associated with Phenotypes Related to the Human AUTS2 Syndrome

G3: Genes, Genomes, Genetics, 2019
AUTS2 was originally discovered as the gene disrupted by a translocation in human twins with Autism spectrum disorder, intellectual disability, and epilepsy. Since that initial finding, AUTS2-linked mutations and variants have been associated with a very
P. Anne Weisner, Chih-Ying Chen, Younguk Sun, Jennifer Yoo, Wei-Chun Kao, Huimin Zhang, Emily T. Baltz, Joseph M. Troy, Lisa Stubbs   +8 more
doaj   +1 more source

Gene functional networks and autism spectrum characteristics in young people with intellectual disability: a dimensional phenotyping study

Molecular Autism, 2020
Background The relationships between specific genetic aetiology and phenotype in neurodevelopmental disorders are complex and hotly contested. Genes associated with intellectual disability (ID) can be grouped into networks according to gene function ...
Diandra Brkić, Elise Ng-Cordell, Sinéad O’Brien, Gaia Scerif, Duncan Astle, Kate Baker   +5 more
doaj   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

Longitudinal Phenotypic Trajectories in GNAO1‐Related Disorders: Defining Disease Progression and Clinical Profiles

Annals of Neurology, EarlyView.
Objective Pathogenic variants in GNAO1 cause a spectrum of epilepsy, movement disorders, and developmental impairment. Clinical heterogeneity complicates prognosis and therapeutic development. We present the first longitudinal natural history study of GNAO1‐related disorders (GNAO1‐RD) to delineate phenotypic trajectories. Methods Sixty‐six individuals
Jana Domínguez‐Carral, Ana María Domínguez Cobo, Sol Balsells, Anna Aguilar‐Ros, Chu‐Ting Chang, William G. Ludlam, Kathryn Yang, Katerina Bernardi, Micaela Chinigioli, Ainara Salazar‐Villacorta, Veronica Di Pisa, Nuria Lamagrande‐Casanova, Elena González‐Alguacil, Beatriz De la Casa‐Fages, Akihisa Okumura, Josefina Rodríguez, Ayush Agarwal, Daniela Muñoz‐Chesta, Carolina Reynoso‐Osnayo, Amy Lin, Brahim Tabarki, Jobaida Parvin, Adolfo Alberto Gallo, Andreia Forno, Fabian Maass, Johnny Montiel Blanco, Salomé Nasif, Elizabeth Jennions, Jorge Luis Ramón‐Gómez, Helene Verhelst, Juan José Nieto Barceló, Dunja Čokolić Petrović, Luz Victoria García Ruiz, Christoph van Riesen, Paulo Rego Sousa, Maria del Pilar Massaro Sanchez, Husnea Ara Khan, Wejdan Hakami, Jennifer Friedman, Iván Espinoza‐Quinteros, Monica Troncoso, Divyani Garg, Micaela Pauni, Hirokazu Kurahashi, María Concepción Miranda‐Herrero, Anna Duat‐Rodriguez, Luca Soliani, Manju A. Kurian, Angeles Schteinschnaider, Siddharth Srivastava, Darius Ebrahimi‐Fakhari, Kirill A. Martemyanov, Juan Darío Ortigoza‐Escobar   +52 more
wiley   +1 more source

Auditory Discrimination and Auditory Sensory Behaviours in Autism Spectrum Disorders [PDF]

, 2009
It has been hypothesised that auditory processing may be enhanced in autism spectrum disorders (ASD). We tested auditory discrimination ability in 72 adolescents with ASD (39 childhood autism; 33 other ASD) and 57 IQ and age-matched controls, assessing ...
Charman, Tony, Jones, Catherine
core   +1 more source

Labor Epidural Analgesia and Autism Spectrum Disorder in Offspring: A Population‐Based Case–Control Study

Autism Research, EarlyView.
ABSTRACT While the immediate benefits of labor epidural analgesia (LEA) are well established, recent studies have raised concerns about possible associations with autism spectrum disorder (ASD). Therefore, we examined the association between LEA and ASD in offspring.
Taniqua T. Ingol, Jessie K. Edwards, Mollie E. Wood, Chantel L. Martin, Gabriel S. Dichter, Keith Feldman, Alan C. Kinlaw, Julie L. Daniels   +7 more
wiley   +1 more source

Diminished emotion recognition with reduced face gaze in complex situation in individuals with broad autism phenotype. [PDF]

Int J Clin Health Psychol, 2023
Cha WJ, Kim K.
europepmc   +1 more source

Using social robots to study abnormal social development [PDF]

, 2005
Social robots recognize and respond to human social cues with appropriate behaviors. Social robots, and the technology used in their construction, can be unique tools in the study of abnormal social development.
Scassellati, Brian
core   +1 more source

Adverse Childhood Experiences in Autistic and Neurotypical Girls

Autism Research, EarlyView.
ABSTRACT Adverse childhood experiences (ACEs) are potentially traumatic, life‐altering events that occur in childhood with long‐term negative physical and/or mental health outcomes. Previous research, while limited and largely focused on males, suggests children with autism spectrum disorder (ASD) are at higher risk of experiencing ACEs than typically ...
Jon Ebert, Rachael A. Muscatello, Trey McGonigle, Simon Vandekar, Blythe A. Corbett   +4 more
wiley   +1 more source