Results 121 to 130 of about 683 (138)

Developmental Expression of Membrane Pumps and Ion Channels in Human Vestibular Endolymph Homeostasis. [PDF]

Dev Neurobiol
van Beelen ESA, van der Valk WH, de Groot JCMJ, van Benthem PPG, Locher H.   +4 more
europepmc   +1 more source

Speech Perception Outcomes in Children With Single-Sided Deafness Receiving Unilateral Cochlear Implantation Compared to Bimodal Device Users. [PDF]

Ear Hear
Bartels H, Polonenko MJ, Negandhi J, Alemu R, Cushing SL, Papsin BC, Gordon KA.   +6 more
europepmc   +1 more source

Early Postoperative Benefits in Receptive and Expressive Language Development After Cochlear Implantation Under 9 Months of Age in Comparison to Implantation at Later Ages. [PDF]

Clin Exp Otorhinolaryngol
Lee SJ, Oh H, Shin KH, Park SM, Kim YK, Jung DH, Yang J, Chun Y, Kim MY, Han JH, Kim JA, Tran NT, Kim BJ, Choi BY.   +13 more
europepmc   +1 more source

A Three-Year Follow-Up of a Patient With Large Vestibular Aqueduct Syndrome Who Underwent Bilateral Endolymphatic Duct Blockage Surgery. [PDF]

Cureus
Yokoyama N, Sasano Y, Ohira S, Mochizuki F, Komori M.   +4 more
europepmc   +1 more source

Functional Studies of Deafness-Associated Pendrin and Prestin Variants. [PDF]

Int J Mol Sci
Takahashi S, Kojima T, Wasano K, Homma K.   +3 more
europepmc   +1 more source

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Investigation of DFNB4 SLC26A4 mutation in patients with enlarged vestibular aquaduct

International Journal of Pediatric Otorhinolaryngology, 2020
Mutations of the SLC26A4 gene causing enlarged vestibular aqueduct (EVA) syndrome have not yet been fully elucidated. The study aimed to investigate SLC26A4 mutations in patients with EVA syndrome in the Turkish population. Identifying these mutations may play an essential role in determining the prognosis, follow-up, and management options of these ...
Kubilay Kınoğlu, Kadir Serkan Orhan, Hakan Kara, Oğuz Öztürk, Beldan Polat, Hülya Aydoğan, Mehmet Çelik, Ayşe Begüm Ceviz, Yahya Güldiken   +8 more
openaire   +2 more sources

Clinical heterogeneity of the SLC26A4 gene in UAE patients with hearing loss and bioinformatics investigation of DFNB4/Pendred syndrome missense mutations

International Journal of Pediatric Otorhinolaryngology, 2021
The development of next generation sequencing-based techniques showed an important progress in the identification of pathogenic variants related to monogenetic diseases with genetic and phenotypic heterogeneities. Hereditary hearing loss is considered as one of these heterogeneous diseases, given the large number of deafness causing genes, the ...
Jihen Chouchen, Mona Mahfood, Maryam Alobathani, Walaa Kamal Eldin Mohamed, Abdelaziz Tlili   +4 more
openaire   +2 more sources

Pendred syndrome, DFNB4, andPDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations

Human Mutation, 2001
Mutations in PDS (SLC26A4) cause both Pendred syndrome and DFNB4, two autosomal recessive disorders that share hearing loss as a common feature. The hearing loss is associated with temporal bone abnormalities, ranging from isolated enlargement of the vestibular aqueduct (dilated vestibular aqueduct, DVA) to Mondini dysplasia, a complex malformation in ...
C, Campbell, R A, Cucci, S, Prasad, G E, Green, J B, Edeal, C E, Galer, L P, Karniski, V C, Sheffield, R J, Smith   +8 more
openaire   +2 more sources