Autoimmune Inner Ear Disease: The Current State of Knowledge. [PDF]
Audiol ResMyszel K, Skarżyński PH, Michalak T.
europepmc +1 more source
American Journal of Community Psychology, EarlyView.Abstract Technical Assistance (TA) is an essential strategy for supporting organizational growth and aiding implementation of evidence‐based interventions in mission‐driven sectors, including education. While TA is crucial for addressing challenges and improving performance, the field has limited consensus on key features and best practices ...
Sarah M. Stilwell +7 more
wiley +1 more source
Development process and user experiences of an online support program for first-time hearing aid users. [PDF]
Front Digit HealthAhlberg S +4 more
europepmc +1 more source
Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan +5 more
wiley +1 more source
Characterization and Analysis of PHEX Variants in Patients With Hypophosphatemia in Argentina
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Confirming the underlying molecular etiology of hereditary hypophosphatemia (HH) to provide recurrence risk counseling is highly important. Our aims were to describe the detected variants and their distribution across Argentina and to contrast them with published data.
Silvia Ávila +3 more
wiley +1 more source
Spinal Involvement in Charge Syndrome: Implications for Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes +5 more
wiley +1 more source
Effectiveness of the Healthy Hearing Promoting Program (HHPP) among workers in large-scale industries: A randomized controlled trial in central Thailand. [PDF]
Belitung Nurs JKaewfong I +3 more
europepmc +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman +11 more
wiley +1 more source
Frailty index predicts hearing loss in middle-aged and older adults: A triangulated analysis of global, cohort, and genetic data. [PDF]
Braz J OtorhinolaryngolRen L, Jiang X, Wang M, Zhang X.
europepmc +1 more source
A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini +9 more
wiley +1 more source