Results 81 to 90 of about 480,361 (342)

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

Health‐Related Quality of Life, Everyday Executive Functioning, and Eating Behavior in Adults With Bardet–Biedl Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bardet–Biedl syndrome (BBS) is a rare genetic condition with a broad phenotypic spectrum. Knowledge about quality of life, executive functioning, and eating behavior in adults with BBS remains limited. This study aimed to assess health‐related quality of life (HRQoL), everyday executive functioning, and eating behavior in adults with BBS and ...
Cecilie Fremstad Rustad, Charlotte von der Lippe, Hilde Nordgarden, Jeanette Ullmann Miller, Mina Susanne Weedon‐Fekjær, Ragnheidur Bragadottir, Solrun Sigurdardottir   +6 more
wiley   +1 more source

Trait anxiety modulates brain activity during performance of verbal fluency tasks

Frontiers in Behavioral Neuroscience, 2016
Trait anxiety is thought to be associated with pathological anxiety, and a risk factor for psychiatric disorders. The present study examines the brain mechanisms associated with trait anxiety during the performing of verbal fluency tasks.
Barbara eGawda, Ewa eSzepietowska
doaj   +1 more source

Sex Differences and Menstrual Cycle Dependent Changes in Cognitive Strategies during Spatial Navigation and Verbal Fluency

Frontiers in Psychology, 2017
Men typically outperform women in spatial navigation tasks, while the advantage of women in verbal fluency is more controversial. Sex differences in cognitive abilities have been related to sex-specific cognitive strategies on the one hand and sex ...
Andrea Scheuringer, Belinda Pletzer
semanticscholar   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Family Dispute Resolution in Australia: The Under‐Servicing of Indigenous, Migrant and Refugee Families Experiencing Family Violence

Australian Journal of Social Issues, EarlyView.
ABSTRACT Improving access to legal services for Indigenous, migrant and refugee women is critical to addressing family violence. In this context, Family Dispute Resolution (FDR) has long been discussed as a solution for separating families. This paper presents key findings of a research evaluation of an Australian Government $8.37 million pilot project
Siobhan McDonnell, Alyson Wright
wiley   +1 more source

Verbal Fluency Tasks: Effects of Age, Gender, and Education

Folia Phoniatrica et Logopaedica, 2016
<b><i>Objectives:</i></b> This study presents data for semantic fluency, phonemic fluency, action fluency, and alternate fluency. The aim is to provide normative data by age, gender, and education for European Portuguese in each fluency category.
Nogueira, Dália, Reis, Elizabeth, Vieira, Ana Isabel   +2 more
openaire   +4 more sources

Cognitive or Cognitive-Motor Executive Function Tasks? Evaluating Verbal Fluency Measures in People with Parkinson's Disease

BioMed Research International, 2017
Introduction Executive function deficits are observed in people with Parkinson's disease (PD) from early stages and have great impact on daily living activities.
A. F. Barbosa, M. Voos, Janini Chen, Debora Cristina Valente Francato, Carolina de Oliveira Souza, E. Barbosa, H. F. Chien, L. Mansur   +7 more
semanticscholar   +1 more source

Alzheimer's Disease Co‐Pathology and Cognitive Impairment in Amyotrophic Lateral Sclerosis

Annals of Neurology, EarlyView.
Objectives Amyotrophic lateral sclerosis (ALS) and Alzheimer's disease (AD) share neuropathological features, including tau, amyloid, and TDP‐43 pathology. This study investigated whether AD‐related pathological changes are associated with cognitive impairment ALS. Methods Cerebrospinal fluid (CSF total‐tau, phosphorylated‐tau, beta‐amyloid) and plasma
Elisabeth Kasper, Annaliis Lehto, Alexandra Jürs, Nina Nordmann, Oliver Peters, Julian Hellmann, Josef Priller, Eike Jakob Spruth, Gabor C. Petzold, Ina Voigt, Patrick Weydt, Sarah Bernsen, Elisabeth Dinter, Björn Falkenburger, René Günther, Emrah Düzel, Wenzel Glanz, Matthis Synofzik, Lukas Beichert, Annika Spottke, Michael Wagner, Frederic Brosseron, Matthias C. Schmid, Annett Halle, Jochen Herms, Anja Schneider, Stefan Teipel, Johannes Prudlo, Manuela Neumann, Andreas Hermann   +29 more
wiley   +1 more source

Deep Brain Stimulation Frequency of the Subthalamic Nucleus Affects Phonemic and Action Fluency in Parkinson’s Disease

Parkinson's Disease, 2016
Introduction. Deep brain stimulation of the subthalamic nucleus (STN-DBS) in Parkinson’s disease (PD) has been linked to a decline in verbal fluency. The decline can be attributed to surgical effects, but the relative contributions of the stimulation ...
Valéria de Carvalho Fagundes, Carlos R. M. Rieder, Aline Nunes da Cruz, Bárbara Costa Beber, Mirna Wetters Portuguez   +4 more
doaj   +1 more source