Results 101 to 110 of about 133,997 (277)

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Relação entre desvios fonológicos e processamento auditivo Relationship between phonological disorders and auditory processing

Revista da Sociedade Brasileira de Fonoaudiologia, 2009
OBJETIVOS: Pesquisar a relação entre desvio fonológico e processamento auditivo. MÉTODOS: Os dados foram coletados por meio da verificação de prontuários.
Débora Tomazi Moreira Caumo, Maria Inês Dornelles da Costa Ferreira   +1 more
doaj   +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

Processamento auditivo em idosos: implicações e soluções Auditory processing in elderly: implications and solutions

Revista CEFAC, 2010
TEMA: processamento auditivo em idosos. OBJETIVO: estudar, através de uma revisão teórica, o processamento auditivo em idosos, as desordens que o envelhecimento auditivo causam, bem como os recursos para reduzir as defasagens nas habilidades auditivas ...
Leonardo Henrique Buss, Lílian Seligman Graciolli, Angela Garcia Rossi   +2 more
doaj  

National Disability Insurance Scheme and Quality of Life Among Carers of Children With Autism Spectrum Disorder in Australia: A Thematic Analysis

Australian Journal of Social Issues, EarlyView.
ABSTRACT Diagnoses of autism spectrum disorder in Australia have increased considerably in recent years. The current study investigated how the National Disability Insurance Scheme (NDIS) impacts quality of life (QoL) among carers of children with autism spectrum disorder.
Jesse Gerhard, Sharon L. Grant
wiley   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source

Review: Auditory Integration Training

Journal of Rehabilitation, 2003
Auditory integration training (AIT) is a hearing enhancement training process for sensory input anomalies found in individuals with autism, attention deficit hyperactive disorder, dyslexia, hyperactivity, learning disability, language impairments ...
Zahra Ja'fari
doaj  

Interference between postural control and mental task performance in patients with vestibular disorder and healthy controls

, 2001
OBJECTIVES - To determine whether interference between postural control and mental task performance in patients with balance system impairment and healthy subjects is due to general capacity limitations, motor control interference, competition for ...
Bronstein, A., Buckwell, D., Davies, R., Gardner, M., Luxon, L., Yardley, L.   +5 more
core   +2 more sources

Differential roles of EA‐TRAPed cells in the anterior cingulate cortex across various intervention times in inflammatory pain

Animal Models and Experimental Medicine, EarlyView.
The cumulative effect of EA analgesia is partially attributed to the activation of EA‐TRAPed cells in ACC. Multiple EA sessions and single EA sessions activated different neuronal populations in the ACC. The enhanced analgesic effect of multiple EA sessions may be attributed to an increase in the proportion of GABAergic neurons within the ACC. Abstract
Zi Guo, Ru Ye, Lu Guan, Wei He, Shuang Qiu, Xiaomei Shao, Junfan Fang, Jianqiao Fang, Junying Du   +8 more
wiley   +1 more source