Results 81 to 90 of about 19,233 (265)

Reduced hippocampal inhibition and enhanced autism-epilepsy comorbidity in mice lacking neuropilin 2

Translational Psychiatry, 2021
The neuropilin receptors and their secreted semaphorin ligands play key roles in brain circuit development by regulating numerous crucial neuronal processes, including the maturation of synapses and migration of GABAergic interneurons.
Carol Eisenberg, Deepak Subramanian, Milad Afrasiabi, Patryk Ziobro, Jack DeLucia, Pamela R. Hirschberg, Michael W. Shiflett, Vijayalakshmi Santhakumar, Tracy S. Tran   +8 more
doaj   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Sexuality and the Autism Spectrum: Implications for Individuals with the Broad Autism Phenotype

, 2017
Many people who are not diagnosed with Autism Spectrum Disorder (ASD) nevertheless have some symptoms of the disorder. These people are classified as having the Broad Autism Phenotype (BAP) and have some of the same difficulties as people with ASD.
Qualls, Lydia, Hartmann, Kathrin, Paulson, James F.   +2 more
openaire   +3 more sources

Psychometric Properties of the Persian Version of the Comprehensive Autism Trait Inventory (CATI)

Iranian Journal of Psychiatry
Objective: The present study aimed to culturally adapt and psychometrically evaluate the Comprehensive Autism Trait Inventory (CATI) for use within the Iranian society, thereby facilitating cross-cultural research on autistic traits.
Karim Abdolmohammadi, Asgar Alimohamadi, Jafar Samari Safa   +2 more
doaj   +1 more source

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Associations Between Social Functioning and Indicators of University Student Engagement

European Journal of Investigation in Health, Psychology and Education
Less socially adaptive behaviors have often been underestimated in university students, with limited research addressing their impact on academic functioning. This study aimed to identify distinct profiles of social functioning difficulties in university
Marco Turi, Rocco Servidio, Giovanna Esposito, Flaviana Tenuta, Lorena Montesano, Andrea De Giacomo, Antonella Valenti, Maria Francesca Freda, Linda S. Pagani, Francesco Craig   +9 more
doaj   +1 more source

Recognition of emotional facial expressions and broad autism phenotype in parents of children diagnosed with autistic spectrum disorder

, 2014
Objective: Research findings debate about features of broad autism phenotype. In this study, we tested whether parents of children with autism have problems recognizing emotional facial expression and the contribution of such an impairment to the broad ...
Demir, Türkay, Kadak, Muhammed Tayyib, DEMIREL, Omer Faruk, YAVUZ, Mesut   +3 more
core   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Prenatal broad-spectrum cannabidiol administration prevents an autism-like phenotype in male offspring from a maternal stress/terbutaline rat model

Brain, Behavior, & Immunity - Health
Recently, the diagnosis of autism spectrum disorder (ASD) has increased from 1 in 150 to every 1 in 36 children in the United States, warranting a need for novel prevention and therapeutic strategies.
Jeremy A. Taylor, Zachariah Z. Smith, Michael E. Anderson, Evan M. Holbrook, Isabella S. Elkinbard, Jon D. Reuter, Christopher A. Lowry, Daniel S. Barth   +7 more
doaj   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source