Establishment of two iPSC lines from healthy donor with heterozygous mutation in the SLC26A4 gene
Stem Cell Research, 2022 The human induced pluripotent stem cell (iPSC) lines, CSUXHEi001-A and CSUXHEi002-A, were generated from peripheral blood mononuclear cells (PBMCs). The donors were couple and each of them has a heterozygous mutation in the SLC26A4 gene.
SiJun Li +9 more
doaj +1 more source
Clinicopathologic Features and Magnetic Resonance Imaging Findings in 24 Cats With Histopathologically Confirmed Neurologic Feline Infectious Peritonitis [PDF]
, 2017 Background: Feline infectious peritonitis (FIP) is the most common infectious central nervous system (CNS) disease in the cat and is invariably fatal. Improved means of antemortem diagnosis is required to facilitate clinical decision making.
Bailey +23 more
core +1 more source
Application of a New Genetic Deafness Microarray for Detecting Mutations in the Deaf in China. [PDF]
PLoS ONE, 2016 The aim of this study was to evaluate the GoldenGate microarray as a diagnostic tool and to elucidate the contribution of the genes on this array to the development of both nonsyndromic and syndromic sensorineural hearing loss in China.We developed a ...
Hong Wu +11 more
doaj +1 more source
Phase-Contrast Magnetic Resonance Imaging Identifies Low Cerebrospinal Fluid Velocity at the Foramen Magnum in Small Breed Dogs With an Enlarged Ventricular System. [PDF]
J Vet Intern MedABSTRACT Background In small breed dogs, enlarged ventricles of the brain are a common finding on magnetic resonance imaging (MRI). In humans, enlarged lateral ventricles are usually the consequence of mesencephalic aqueduct stenosis. Cerebrospinal fluid (CSF) velocity measurements indicating obstruction are lacking in dogs.
Hubler S +4 more
europepmc +2 more sources
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts [PDF]
, 2013 Pendred syndrome is a common autosomal recessive disorder causing deafness. Features include sensorineural hearing impairment, goitre, enlarged vestibular aqueducts (EVA) and occasionally Mondini dysplasia.
Bitner-Glindzicz, M +4 more
core +2 more sources
Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family [PDF]
, 2017 List of PCR primers used.
Jia-Shiun Khoo +6 more
core +3 more sources
Misdiagnosis of otosclerosis in a patient with enlarged vestibular aqueduct syndrome: a case report
Journal of Medical Case Reports, 2012 Introduction In the present case we report on the mismanagement of a patient misdiagnosed with otosclerosis, who was subsequently found to have enlarged vestibular aqueduct syndrome bilaterally.
Távora-Vieira Dayse, Miller Stuart
doaj +1 more source
Cochlear Implant Outcomes and Genetic Mutations in Children with Ear and Brain Anomalies [PDF]
, 2015 Background. Specific clinical conditions could compromise cochlear implantation outcomes and drastically reduce the chance of an acceptable development of perceptual and linguistic capabilities.
Aimoni, C +8 more
core +4 more sources
Enlarged vestibular aqueduct in two male siblings [PDF]
Developmental Medicine & Child Neurology, 2002 This report describes the case history of two male siblings with sensorineural hearing loss and an enlarged vestibular aqueduct (EVA). Sibling 1 presented with a history of intermittent self‐limiting ataxia and hearing loss at the age of 25 months and sibling 2 presented with a similar history at the age of 18 months.
C M, Varghese +4 more
openaire +2 more sources
Vestibular schwannoma and ipsilateral endolymphatic hydrops: an unusual association [PDF]
, 2017 Vestibular schwannoma and endolymphatic hydrops are two conditions that may present with similar audio-vestibular symptoms. The association of the two in the same patient represents an unusual nding that may lead clinicians to errors and delays in ...
ALTISSIMI, Giancarlo +8 more
core +2 more sources