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NLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness [PDF]

open access: goldNeural Plasticity, 2016
Nonsyndromic deafness is genetically heterogeneous but phenotypically similar among many cases. Though a variety of targeted next-generation sequencing (NGS) panels has been recently developed to facilitate genetic screening of nonsyndromic deafness ...
Penghui Chen   +5 more
doaj   +4 more sources

Reversible splenial lesion syndrome in sisters with sensorineural deafness as the first manifestation [PDF]

open access: yesHeliyon, 2021
Reversible splenial lesion syndrome (RESLES) is a rare clinico-radiological disorder syndrome with unclear pathophysiology. Here, two sisters with sensorineural deafness as the chief complaint diagnosed with RESLES was reported.
Jinbo Yang   +5 more
doaj   +2 more sources

Risks of tinnitus, sensorineural hearing impairment, and sudden deafness in patients with non-migraine headache.

open access: goldPLoS ONE, 2019
Tinnitus and hearing impairment are prevalent among headache patients. This study aims to investigate the risk of tinnitus, sensorineural hearing impairment, and sudden deafness in patients with non-migraine headache.
Yi-Chun Chen   +3 more
doaj   +3 more sources

Bilateral Sensorineural Deafness in a Young Pregnant Female Presenting with a Fever: A Rare Complication of a Reemerging Disease—Spotted Fever Group Rickettsioses [PDF]

open access: yesCase Reports in Infectious Diseases, 2019
Background. Rickettsial illnesses are a group of arthropod-borne remerging diseases. They are subdivided into three groups as typhus, spotted fever, and scrub typhus group.
A. G. T. A. Kariyawasam   +5 more
doaj   +2 more sources

Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel GATA3 mutation p.Ala287Asp [PDF]

open access: yesEndocrinology, Diabetes & Metabolism Case Reports
HDR is a rare autosomal dominant genetic disorder characterized by the triad of hypoparathyroidism, sensorineural deafness and renal anomalies caused by haploinsufficiency loss of function of the GATA-binding protein 3 (GATA3) gene.
Luke Vroegindewey   +2 more
doaj   +2 more sources

Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome in a European child with mutations: A case report [PDF]

open access: yesSAGE Open Medical Case Reports, 2017
Background: Epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome is a multi-organ disorder that links to autosomal recessive mutations in the KCNJ10 gene, which encodes for the Kir4.1 potassium channel. It is mostly described in consanguineous,
Antigone Papavasiliou   +3 more
doaj   +2 more sources

Retinitis pigmentosa and sensorineural deafness associated with a de novo DHX16 mutation: case report [PDF]

open access: yesFrontiers in Genetics
BackgroundRetinitis pigmentosa and sensorineural deafness are two distinct clinical entities that can be caused by a variety of genetic mutations. The DHX16 gene, which encodes a protein involved in RNA processing, has been implicated in several genetic ...
Lei Wang   +7 more
doaj   +2 more sources

Seizure, Deafness, and Renal Failure: A Case of Barakat Syndrome [PDF]

open access: yesCase Reports in Nephrology, 2013
Barakat syndrome (also known as HDR syndrome) is an autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease caused by mutation of the GATA3 gene located at chromosome 10p15.
Nasrollah Maleki   +3 more
doaj   +3 more sources

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