Results 101 to 110 of about 2,727 (206)

A novel variant of SLC26A4 and first report of the c.716T>A variant in Iranian pedigrees with non-syndromic sensorineural hearing loss [PDF]

, 2018
The autosomal recessive non-syndromic hearing loss (ARNSHL) can be associated with variants in solute carrier family 26, member 4 (SLC26A4) gene and is the second most common cause of ARNSHL worldwide.
Ahmadi, R, Azadegan-Dehkordi, F, Bahrami, T, Farrokhi, E, Hashemzadeh-Chaleshtori, mahmoud, Tabatabaiefar, MA, Yazdanpanahi, N   +6 more
core  

The Study of SLC26A4 Gene Causing Autosomal Recessive Hearing Loss by Linkage Analysis in a Cohort of Iranian Populations. [PDF]

, 2014
Sensorineural non-syndromic hearing loss is the most common disorder which affects 1 in 500 newborns. Hearing loss is an extremely heterogeneous defect with more than 100 loci identified to date.
Ahmadian, Shahla., Hashemzadeh-Chaleshtori, Morteza., Parchami Barjui, Shahrbanoo., Porjafari, Hamid., Reiisi, Salimeh., Reiisi, Somayeh., Sanati, Mohammad Hossein., Shahi, Heshmat., Shavarzi, Afsaneh., Tabatabaiefar, Mohammad Amin.   +9 more
core  

The Relationship between Brachycephalic Head Features in Modern Persian Cats and Dysmorphologies of the Skull and Internal Hydrocephalus [PDF]

, 2017
Background: Cat breeders observed a frequent occurrence of internal hydrocephalus in Persian cats with extreme brachycephalic head morphology. Objective: To investigate a possible relationship among the grade of brachycephaly, ventricular dilatation ...
Enderlein, S., Failing, K., Fischer, A., Gorgas, D., Kampschulte, M., Lang, J., Ludewig, E., Meyer-Lindenberg, A., Ondreka, N., Schaubmar, A. R., Schmidt, M. J.   +10 more
core   +2 more sources

Large Vestibular Aqueduct Syndrome Causing Progressive Hearing Loss in Childhood Article

Pakistan Journal of Medicine and Dentistry
Background: Sensorineural hearing loss in adults is commonly associated with aging, trauma or autoimmune disease. In children, however, sensorineural hearing loss can also be due to genetic causes, leading to malformation of internal ear structures ...
Salman Baig, Sana Ansari, Nash Patel, Nial Considine   +3 more
doaj  

Enlarged vestibular aqueduct

, 2021
Andrew J. Griffith, Keiji Honda
openaire   +2 more sources

Validating the splicing effect of rare variants in the SLC26A4 gene using minigene assay

BMC Medical Genomics
Background The SLC26A4 gene is the second most common cause of hereditary hearing loss in human. The aim of this study was to utilize the minigene assay in order to identify pathogenic variants of SLC26A4 associated with enlarged vestibular aqueduct (EVA)
Yixin Zhao, Yan Long, Tao Shi, Xin Ma, Chengyu Lian, Hanjun Wang, Hongen Xu, Lisheng Yu, Xiaotao Zhao   +8 more
doaj   +1 more source

Large Vestibular Aqueduct-Associated Symptoms: Endolymphatic Duct Blockage as a Surgical Treatment

Audiology Research
Objective: This study aimed to evaluate the effectiveness of endolymphatic duct blockage (EDB) on dizziness control in patients with a large vestibular aqueduct (LVA) and to evaluate its effect on hearing.
Issam Saliba, Sarah Alshehri, Isabelle Fournier, Nasser Altamami   +3 more
doaj   +1 more source

Incorporating Vestibular Evoked Myogenic Potential (VEMP) assessment into our clinical practice [PDF]

, 2008
Vestibular Evoked Myogenic Potentials (VEMPs) are short-latency electromyographic responses evoked by intense acoustic stimuli. They are measured in the ipsilateral, tonically-contracted sternocleidomastoid (SCM) muscle.
Jackson, Jacquelyn
core  

Timing of cochlear implantation in large vestibular aqueduct syndrome–a retrospective cohort analysis

Frontiers in Neurology
IntroductionLarge vestibular aqueduct syndrome (LVAS) typically manifests fluctuating, progressive, or sudden hearing loss. Cochlear implantation (CI) is a critical intervention for LVAS patients when hearing aids (HA) no longer confer sufficient benefit.
Xiao Liu, Wanting Huang, Yunxiu Wang, Jingjing Xu, Lulu Xie, Lin Liu, Jia Chen   +6 more
doaj   +1 more source

Variations in the cochlear implant experience in children with enlarged vestibular aqueduct [PDF]

, 2015
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/113144/1/lary25187 ...
Huq, Farhan, Ibrahim, Mohannad, Parmar, Hemant, Phillips, Amanda, Pritchett, Cedric, Telian, Steven, Thorne, Marc, Zwolan, Teresa   +7 more
core   +1 more source