Results 31 to 40 of about 66,726 (167)
, 2019 Crude and adjusted hazard ratios for individual tinnitus, sensorineural hearing impairment, and sudden deafness.
Yi-Chun Chen (189669) +3 more
core +1 more source
Genetics and Molecular Biology, 2006 Deafness is a complex disorder affecting 1/1000 infants. In developed countries, more than 50% of deafness cases are thought to have a genetic cause. At least 40 loci for dominant non-syndromic deafness and another 30 for recessive non-syndromic deafness
Raquel Rabionet +4 more
doaj +1 more source
, 2019 Crude and adjusted hazard ratios for combining tinnitus, sensorineural hearing impairment, and sudden deafness.
Yi-Chun Chen (189669) +3 more
core +1 more source
Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study. [PDF]
PLoS ONE, 2012 Although etiological studies have shown genetic disorders to be a common cause of congenital/early-onset sensorineural hearing loss, there have been no detailed multicenter studies based on genetic testing.
Shin-ichi Usami +5 more
doaj +1 more source
Педиатрическая фармакологияImpaired hearing in children such as hearing loss and deafness is crucial medical and social topic. Auditory function deterioration in a child can lead to mental and speech development delays. Preventive measures and timely diagnosis of defective hearing
Valentin I. Popadyuk +2 more
doaj +1 more source
Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa +3 more
wiley +1 more source
Perrault Syndrome – A Rare Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2015 Perrault syndrome is a rare disease comprising pure gonadal dysgenesis (46 XX) and sensorineural hearing loss in females and deafness alone in affected males. It is an autosomal recessive disorder.
Sampathkumar Geethalakshmi +1 more
doaj +1 more source
Wolfram syndrome: A rare mimic of type 1 diabetes mellitus
CHRISMED Journal of Health and Research, 2016 Wolfram syndrome is a rare autosomal recessive disorder characterized by a constellation of disorders also known as diabetes insipidus, diabetes mellitus (DM), optic atrophy, and deafness.
Manish Gutch +4 more
doaj +1 more source
The tale of Wolfram syndrome in a young child versus an adolescent: Two case reports
Indian Journal of Ophthalmology. Case Reports, 2023 Wolfram Syndrome (WS) is a rare autosomal recessive progressive neurodegenerative disorder characterized by juvenile-onset diabetes mellitus (DM) and optic atrophy (OA), known as DIDMOAD (diabetes insipidus [DI], diabetes mellitus, optic atrophy ...
Hirika Gosalia +3 more
doaj +1 more source
Role of SoxE transcription factors in development and disease
Developmental Dynamics, EarlyView.Abstract Sox8, Sox9, and Sox10 arose by multiple rounds of genome duplications from a single SoxE gene in ancestral vertebrates. In this review, we will briefly discuss the molecular structure and function of SoxE transcription factors and their evolutionary origin. We will then discuss their expression, function, and developmental disorders.
Merin Lawrence, Gerhard Schlosser
wiley +1 more source