Results 61 to 70 of about 2,696 (171)

A Novel LMX1A Frameshift Variant Underlies Familial Phenotypic Heterogeneity in DFNA7

Human Mutation, Volume 2026, Issue 1, 2026.
Pathogenic variants in the LIM‐homeodomain transcription factor LMX1A represent a rare yet critical etiology for autosomal dominant nonsyndromic hearing loss 7 (DFNA7) and less frequently, its autosomal recessive counterpart (ARNSHL). Here, we describe a novel heterozygous frameshift variant, LMX1A c.405delT (p.Phe135LeufsTer3), identified in a three ...
Chenyang Xu, Zhipeng Nie, Suyang Wang, Yiming Zhu, Xiaowen Liu, Yufen Guo, Stuart Scott   +6 more
wiley   +1 more source

Drug Diffusion Along an Intact Mammalian Cochlea

Frontiers in Cellular Neuroscience, 2019
Intratympanic drug administration depends on the ability of drugs to pass through the round window membrane (RW) at the base of the cochlea and diffuse from this location to the apex.
Ildar I. Sadreev, George W. S. Burwood, Samuel M. Flaherty, Jongrae Kim, Ian J. Russell, Timur I. Abdullin, Andrei N. Lukashkin, Andrei N. Lukashkin   +7 more
doaj   +1 more source

Cochlear implantation of a child with Townes-Brocks Syndrome in Tanzania: a case report

The Egyptian Journal of Otolaryngology
Background Townes-Brocks Syndrome (TBS), an autosomal dominant disorder, is known to cause hearing loss amongst other expressions including anomalies that affect the external ear, hands, feet, anus, and kidneys.
Ali F. Jaffer, Ahmed Mehanna, Nina Patel, Fayaz Jaffer, Rashida Hassuji   +4 more
doaj   +1 more source

CT-Scans of Cochlear Implant Patients with Characteristics of Pendred Syndrome

Cellular Physiology and Biochemistry, 2013
Background: Sensorineural hearing loss (SNHL) in newborns is estimated with an incidence around 1:10,000 per year and is divided into syndromic and non-syndromic forms.
Sebastian Roesch, Gerhard Moser, Gerd Rasp, Miklós Tóth   +3 more
doaj   +1 more source

"COCHLEAR IMPLANTATION IN PATIENTS WITH INNER EAR MALFORMATIONS" [PDF]

Acta Medica Iranica, 2004
Performing cochlear implantation in patients with inner ear malformation has always been a matter of dispute. This study was designed to analyze the operative findings,complications, and postoperative performance of patients with inner ear anomalies who ...
MH. Khalessi, M. Motesaddi Zari, P. Borghei S. Abdi   +2 more
doaj   +1 more source

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  

Estimation of outer-wall length in optimizing cochlear implantation in malformed inner ears

Scientific Reports
Estimation of cochlear length is gaining attention in the field of cochlear implants (CIs), mainly for selecting of CI electrode lengths. The currently available tools to estimate the cochlear duct length (CDL) are only valid for normal inner anatomy ...
Afrah Alshalan, Yassin Abdelsamad, Asma Alahmadi, Francesco Santoro, Salman Alhabib, Fida Almuhawas, Farid Alzhrani, Abdulrahman Alsanosi, Anandhan Dhanasingh   +8 more
doaj   +1 more source

Cochlear Aqueduct Post-Natal Growth: A Computed Tomography Study. [PDF]

J Assoc Res Otolaryngol
Abbas M, Wang J, Leboucq N, Mondain M, Blanc F.   +4 more
europepmc   +1 more source

Cochlear aqueduct

, 2019
Craig Hacking, Frank Gaillard, Francis Deng   +2 more
openaire   +1 more source

Radiological diagnosis of cochlear incomplete partition type 3 (IP-III) in a 4-year-old male: A case report. [PDF]

Radiol Case Rep
Sinha NK, Raj G, Sonker S, Srivastava S, Ghosh RP.   +4 more
europepmc   +1 more source