Noise-induced hearing disorders: Clinical and investigational tools. [PDF]
J Acoust Soc Am, 2023 Le Prell CG, Clavier OH, Bao J.
europepmc +1 more source
Expanding the Utility of Exome Sequencing in Preventive and Population Genetics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas +6 more
wiley +1 more source
Cell Death DiscoveryThe Fscn2 (Fascin2) gene encodes an actin cross-linking protein that is involved in the formation of hair cell stereocilia and retina structure. Mutations in Fscn2 gene have been linked to hearing impairment and retinal degeneration in humans and mice ...
Rongrong Liu +10 more
doaj +1 more source
PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda +5 more
wiley +1 more source
Integrating pharmacogenomics into clinical trials of hearing disorders. [PDF]
J Acoust Soc Am, 2022 Brutnell TP, Wang X, Bao J.
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
Systematic Review and Meta-Analysis of the Application of Virtual Reality in Hearing Disorders. [PDF]
J Audiol Otol, 2022 Kwak C, Han W, Bahng J.
europepmc +1 more source
A longitudinal framework to describe the relation between age-related hearing loss and social isolation [PDF]
Many older adults live with some form of hearing loss and have difficulty understanding speech in the presence of background sound. Experiences resulting from such difficulties include increased listening effort and fatigue.
Motala, Aysha +2 more
core +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
Evaluation of the Recovery of Idiopathic Sudden Sensorineural Hearing Loss Based on Estimated Hearing Disorders. [PDF]
Audiol Res, 2022 Nishimura T +5 more
europepmc +1 more source