Results 181 to 190 of about 93,748 (336)

Chronic Low‐Level Lead Exposure Causes Auditory Impairment and Accelerates the Progression of Age‐Related Hearing Loss in C57BL/6J Mice

open access: yesAging Cell, Volume 25, Issue 1, January 2026.
Chronic low‐concentration lead exposure accelerates the development of ARHL. Lead exposure mediates damage to cochlear sensory cells via the mitochondrial protease LONP1, leading to irreversible hearing loss. ABSTRACT Heavy metal ion exposure has become a global public health concern.
Xue Bai   +10 more
wiley   +1 more source

Chudley-McCullough syndrome: A report of a rare syndromic sensorineural hearing loss. [PDF]

open access: yesRadiol Case Rep
Ouqlani C   +6 more
europepmc   +1 more source

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity

open access: yesClinical Genetics, Volume 109, Issue 1, Page 176-180, January 2026.
A novel case is herein described to expand the genetic and clinical spectrum of WDR91 and characterize a previously unrecognized autosomal recessive neurodevelopmental disorder. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development.
Nikolaos M. Marinakis   +14 more
wiley   +1 more source

Sensorineural hearing loss in anti-interleukin-1 treated CAPS patients: risk factors and real-life barriers-an observational study. [PDF]

open access: yesRheumatology (Oxford)
Satirer Ö   +5 more
europepmc   +1 more source

The Phenotypic Spectrum of Miller Syndrome: Insight From a French Cohort

open access: yesClinical Genetics, Volume 109, Issue 1, Page 188-193, January 2026.
This study expands the clinical spectrum of Miller syndrome by reporting novel features including preaxial defects, facial nevus simplex, and optic atrophy. It also includes the first patients with homozygous DHODH variants, emphasizing the importance of early diagnosis and the variability of presentations, from severe prenatal to mild adult phenotypes.
Marion Aubert Mucca   +13 more
wiley   +1 more source

Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome

open access: yesClinical Genetics, Volume 109, Issue 1, Page 199-203, January 2026.
Jones syndrome (JS) is an ultra‐rare condition characterized by gingival fibromatosis and progressive sensorineural hearing loss. It has been associated with a pathogenic REST exon‐5 variant (c.2670_2673del) in a Finnish family. We describe the first Italian family with JS in which a novel pathogenic REST exon‐5 variant (c.2645T>G) was identified ...
Valentina Lodato   +15 more
wiley   +1 more source

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human [PDF]

open access: bronze, 2011
Nikoletta Charizopoulou   +15 more
openalex   +1 more source

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