Results 81 to 90 of about 2,727 (206)

SLC26A4 gene copy number variations in Chinese patients with non-syndromic enlarged vestibular aqueduct

Journal of Translational Medicine, 2012
Background Many patients with enlarged vestibular aqueduct (EVA) have either only one allelic mutant of the SLC26A4 gene or lack any detectable mutation.
Zhao Jiandong, Yuan Yongyi, Chen Jing, Huang Shasha, Wang Guojian, Han Dongyi, Dai Pu   +6 more
doaj   +1 more source

A novel SLC26A4 splicing mutation identified in two deaf Chinese twin sisters with enlarged vestibular aqueducts

Molecular Genetics & Genomic Medicine, 2020
Background Variants in the SLC26A4 gene are correlated with nonsyndromic hearing loss with an enlarged vestibular aqueduct (EVA). This study aimed to identify the genetic causes in a Chinese family with EVA, and the pathogenicity of the detected variants.
Kai Zhou, Lancheng Huang, Menglong Feng, Xinlei Li, Yi Zhao, Fei Liu, Jiazhang Wei, Danxue Qin, Qiutian Lu, Min Shi, Shenhong Qu, Fengzhu Tang   +11 more
doaj   +1 more source

Cochlear implantation for children with single‐sided deafness: parents’ perspectives

Journal of the Royal Society of New Zealand, Volume 55, Issue 3, Page 530-546, June 2025.
ABSTRACT Historically, cochlear implantation is reserved for those with bilateral severe to profound hearing loss. However, indications have expanded to include Single‐Sided Deafness (SSD) because of the known benefits of binaural hearing and the limitations of unilateral hearing, especially for children developing linguistic and cognitive skills. This
Abbey L. Hooper, Holly F. B. Teagle
wiley   +1 more source

Magnetic resonance imaging features of large endolymphatic sac compartments: audiological and clinical correlates [PDF]

, 2017
Objectives: (1) To study the prevalence and characteristics of large endolymphatic sac internal compartments on thin-section T2- and T2*-weighted magnetic resonance imaging, and to relate these to other large endolymphatic sac magnetic resonance imaging ...
Connor, S E J., Fitzgerald-O'Connor, A., Jiang, D., Lee, A., O'Gorman, R., Siddiqui, A., Tysome, J R.   +6 more
core  

Bilateral cochlear implantation or bimodal listening in the paediatric population : retrospective analysis of decisive criteria [PDF]

, 2018
Introduction: In children with bilateral severe to profound hearing loss, bilateral hearing can be achieved by either bimodal stimulation (CIHA) or bilateral cochlear implantation (BICI).
Dhondt, Cleo, Dhooge, Ingeborg, Swinnen, Freya   +2 more
core   +2 more sources

Life Beyond Childhood: Insight Into the Lived Experience of 91 Adults With KBG Syndrome Through an Online Patient/Caregiver‐Reported Co‐Produced Questionnaire

Brain and Behavior, Volume 15, Issue 5, May 2025.
KBG syndrome (KBGS) is one of the most common monogenic causes of ID alongside short stature, macrodontia, and other variable features. Phenotypes in childhood are well documented, but data are lacking about adulthood and how best to support individuals. This study provides essential data on the lived experience of KBGS in adulthood.
Karen J. Low, Moira Walker, Georgia Treneman‐Evans, Nuria C. Bramswig, Morten K. Herlin, Gaetan Lesca, Emanuela Scarano, Charlotte W. Ockeloen, Allan Bayat   +8 more
wiley   +1 more source

Acidosis and Deafness in Patients with Recessive Mutations in FOXI1 [PDF]

, 2018
Maintenance of the composition of inner ear fluid and regulation of electrolytes and acid-base homeostasis in the collecting duct system of the kidney require an overlapping set of membrane transport proteins regulated by the forkhead transcription ...
Alkanderi, S, Ashton, E, Bakhsh, ARA, Bockenhauer, D, Bourgeois, S, D'Arco, F, Daryadel, A, Deeb, A, Edwards, N, Enerbäck, S, Heglind, M, Kleta, R, Kokash, FEB, Nilsson, D, Sayer, JA, Van't Hoff, W, Wagner, CA, Walsh, SB   +17 more
core  

Prognostic Factors and Clinical Characteristics in Pediatric Sudden Sensorineural Hearing Loss: A Retrospective Analysis

Laryngoscope Investigative Otolaryngology, Volume 10, Issue 2, April 2025.
ABSTRACT Objective To investigate the clinical characteristics and prognostic factors influencing treatment outcomes in pediatric sudden sensorineural hearing loss (PSSNHL). Methods A retrospective analysis was conducted on 63 children (64 ears) diagnosed with PSSNHL from January 2013 to December 2023.
Ranshi Zhao, Maoling Huang, Cheng Zhong
wiley   +1 more source

Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome [PDF]

, 2013
Haploinsufficiency of CHD7 (OMIM# 608892) is known to cause CHARGE syndrome (OMIM# 214800). Molecular testing supports a definitive diagnosis in approximately 65-70% of cases. Most CHD7 mutations arise de novo, and no mutations affecting exon-7 have been
Eng, Christine M., Fang, Ping, Lupski, James R., Niu, Zhiyv, Putnam, Philip, Spoonamore, Katherine G., Vatta, Matteo, Willis, Alecia S.   +7 more
core   +1 more source

SLC26A4 C.317C > A Variant: Functional Analysis and Patient‐Derived Induced Pluripotent Stem Line Development

Molecular Genetics &Genomic Medicine, Volume 13, Issue 4, April 2025.
We identified compound heterozygous variants in the SLC26A4 gene, c.919‐2A > G and c.317C > A, and studied how the c.317C > A variant affects Pendrin expression and function. We successfully induced pluripotent stem cells (iPSCs) from peripheral blood mononuclear cells (PBMCs) of the proband.
Yijing Li, Tao Sun, Sang Hu, Hongen Xu, Teng Zhang, Jinlong Liu, Shuangshuang Lu, Bing Wang, Guo Dan   +8 more
wiley   +1 more source