Results 131 to 140 of about 451,462 (336)

MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni, Francesca Romana Lepri, Sarah Cetola, Maria Lisa Dentici, Federico Vigevano, Antonio Novelli, Nicola Specchio, Marina Trivisano, Maria Cristina Digilio   +12 more
wiley   +1 more source

3‐[3‐(Phenalkylamino)cyclohexyl]phenols: Synthesis, biological activity, and in silico investigation of a naltrexone‐derived novel class of MOR‐antagonists

Archiv der Pharmazie, Volume 356, Issue 1, January 2023., 2023
Based on a simplified version of the morphinan scaffold, 3‐[3‐(phenalkylamino)cyclohexyl]phenol analogues were designed, synthesized and evaluated for their µ‐opioid receptor (MOR) antagonist activity in vitro and in silico. Docking studies indicate a peculiar combination of C‐1 stereochemistry and N‐substitutions as feasibly essential for MOR‐ligand ...
Graziella Tocco, Antonio Laus, Maksims Vanejevs, Anastasija Ture, Rafaela Mostallino, Nicholas Pintori, Maria Antonietta De Luca, M. Paola Castelli, Gaetano Di Chiara   +8 more
wiley   +1 more source

DSM-III generalized anxiety disorder: An empirical investigation of more stringent criteria

, 1985
Naomi Breslau, Glenn C. Davis
openalex   +1 more source

Anxiety Disorders in Primary Care [PDF]

, 1997
I.V. Miclujia
openalex   +1 more source

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source

Fostering uncertainty tolerance in anatomy education: Lessons learned from how humanities, arts and social science (HASS) educators develop learners' uncertainty tolerance

Anatomical Sciences Education, Volume 16, Issue 1, Page 128-147, January/February 2023., 2023
Abstract Uncertainty tolerance, individuals' perceptions/responses to uncertain stimuli, is increasingly recognized as critical to effective healthcare practice. While the Covid‐19 pandemic generated collective uncertainty, healthcare‐related uncertainty is omnipresent.
Michelle D. Lazarus, Amany Gouda‐Vossos, Angela Ziebell, Gabrielle Brand   +3 more
wiley   +1 more source

COVID-19 anxiety and its relation to anxiety-related disorder symptoms and mechanisms

Acta Psychologica
The COVID-19 pandemic had a significant impact on the mental health of individuals, particularly in the area of anxiety-related disorders. Anxiety regarding COVID-19 has been associated with health anxiety, panic disorder, and obsessive-compulsive ...
Layton J. Byam, Alexander M. Penney
doaj  

Beyond the Extra X and Y Chromosome: The Contribution of Familial Risk for Psychopathology to the Neurodevelopmental Phenotype of Children With Sex Chromosome Trisomy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Individuals with an extra X or Y chromosome (sex chromosome trisomy or SCT) have an increased risk for symptoms of psychopathology and neurocognitive dysfunction. In this study, we evaluated the contribution of family history (FH) of neuropsychiatric or neurocognitive disorders to the phenotype of SCT. One hundred and six children with SCT and
Sophie van Rijn, Kimberly Kuiper, Hanna Swaab   +2 more
wiley   +1 more source

Measures of tonic and phasic activity of the locus coeruleus—norepinephrine system in children with autism spectrum disorder: An event‐related potential and pupillometry study

Autism Research, Volume 15, Issue 12, Page 2250-2264, December 2022., 2022
Abstract A growing body of research suggests that locus coeruleus‐norepinephrine (LC‐NE) system may function differently in individuals with autism spectrum disorder (ASD). Understanding the dynamics of both tonic (resting pupil diameter) and phasic (pupil dilation response [PDR] and event‐related potential [ERP]) indices may provide meaningful ...
Yesol Kim, Girija Kadlaskar, Rebecca McNally Keehn, Brandon Keehn   +3 more
wiley   +1 more source

Spectral Brain Graph Neural Network for Prediction of Anxiety in Children with Autism Spectrum Disorder [PDF]

arXiv
Children with Autism Spectrum Disorder (ASD) frequently exhibit comorbid anxiety, which contributes to impairment and requires treatment. Therefore, it is critical to investigate co-occurring autism and anxiety with functional imaging tools to understand the brain mechanisms of this comorbidity. Multidimensional Anxiety Scale for Children, 2nd edition (
arxiv