Results 111 to 120 of about 1,497,160 (239)

Novel TCOF1 Frameshift Variant and Phenotypic Heterogeneity in a Chinese Family With Treacher Collins Syndrome

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
Using whole‐exome sequencing, we identified a novel TCOF1 frameshift variant (c.1601_1602delCC, p.Pro534Leufs*15) in a Chinese family with Treacher Collins syndrome. The variant produces a severely truncated Treacle protein lacking key functional domains.
Feiyang Fan, Ying Chen, Tianyu Zhang, Jing Ma   +3 more
wiley   +1 more source

Compound Heterozygous PCDH15 Variants Associated With Cone‐Rod Dystrophy in a Chinese Pedigree

Molecular Genetics &Genomic Medicine, Volume 14, Issue 9, September 2026.
This study represents the first report suggesting a genotype–phenotype relationship between PCDH15 genetic variants and isolated retinal manifestations absent auditory impairment or syndromic features, thereby providing preliminary evidence that may broaden the mutational spectrum associated with this gene.
Lei Zhang, Qianfeng Wang, Haiyan Wang, Wei Jia, Bowen Zhang, Ru Wang, Wei Qiang, Shuwei Bai   +7 more
wiley   +1 more source

Correlation Between Auditory Steady-State Responses and Pure-Tone Audiometry in Hearing Threshold Assessment

Introduction: Accurate assessment of hearing thresholds is a fundamental component of the diagnosis and management of hearing disorders. Although pure-tone audiometry remains the gold standard, its application may be limited in non-cooperative patients ...
Rouadi S, Mahtar M, Bijou W, Lahjaouj M, Oukessou Y, Laraqui O NL, Boudhar H, Loudghiri M, Abada RL, Roubal M   +9 more
core   +1 more source

Pure tone audiometry results of the two patients in family USH01.

, 2014
(A–B) Pure tone audiometry results of patient USH01-III1 show moderate bilateral hearing impairments. (C–D) Moderate to severe bilateral sensorineural hearing loss is revealed in patient USH01-III2.
Kanxing Zhao (312615), Wenzhou Liu (564724), Weining Rong (564721), Yani Liu (564722), Xiaoxing Liu (7978), Shaoping Ha (564723), Xue Chen (127892), Xunlun Sheng (564726), Xiaoli Kang (564725), Chen Zhao (225070)   +9 more
core   +1 more source

Theoretical characterization of pure tone audiometry models

Auris Nasus Larynx
To describe the characteristics of the two representative models, Standard Masking Model and Extended Masking Model, which is superior to and including the former, based on the preceding Review Article on the models for pure tone audiometry.Computer simulation of the models and numerical confirmation of the outputs.1: propositions were evaluated by ...
openaire   +3 more sources

Effects of Asymmetric Auditory Deprivation in Sequential Cochlear Implant

Otolaryngology–Head and Neck Surgery, Volume 175, Issue 3, Page 672-681, September 2026.
Abstract Objective To evaluate the influence of auditory deprivation on sequential cochlear implants in postlingual patients, comparing the ear with shorter deprivation (ESAD), longer deprivation (ELAD), and the bilateral condition (BIL). Study design Retrospective study. Setting A tertiary referral center.
Eduardo S. Farinazzo, Rubens V. de Brito Neto, Elisabete H. Yamaguti, Marco A. Fornazieri, Luiz F. M. Lourençone   +4 more
wiley   +1 more source

Tools for telehealth: A correlational analysis of app‐based hearing testing

Laryngoscope Investigative Otolaryngology
Objective Telehealth evaluation of hearing is rapidly evolving; however, the lack of consensus on the most accurate remote hearing test application has made hearing evaluation complicated.
David Adkins, Anthea Phuong, Jennifer Shinn, Trey Cline, Jordan Hyland, Matthew L. Bush   +5 more
doaj   +1 more source

Ototoxicity and Its Early Diagnosis in Patients Receiving Cancer Chemotherapy - A Prospective Clinical Study

Bengal Journal of Otolaryngology and Head Neck Surgery
Structured Abstract Introduction: Antineoplastic drugs play an important role in the treatment of cancer at different levels & are the most cited ototoxic agents.
Gleamine Selvam Paulraj, Prem Shankar Kumar, Pankaj Kumar Sahu, Rahul Sood, Rashmi Natraj   +4 more
doaj   +1 more source

Evaluation of Pulmonary and Otological Manifestations in Primary Ciliary Dyskinesia and Their Effect on Quality of Life

Pediatric Pulmonology, Volume 61, Issue 9, September 2026.
ABSTRACT Objective Otitis media and conductive hearing loss are common in patients with primary ciliary dyskinesia (PCD). We primarily aimed to assess the impact of otologic features of individuals with PCD on health‐related quality of life (QOL), and our secondary aims are characterization of the coexisting pulmonary and sinonasal findings.
Muruvvet Yanaz, Ela Erdem Eralp, Cansu Yilmaz Yegit, Aynur Gulieva, Mine Kalyoncu, Merve Selcuk Balci, Seyda Karabulut, Nuru Aliyev, Nezafet Ozturk, Almala Pınar Ergenekon, Yasemin Gokdemir, Ali Cemal Yumusakhuylu, Ayca Ciprut, Bulent Karadag   +13 more
wiley   +1 more source

Phonological Awareness and Nonword Repetition in Children With and Without Speech Sound Disorders: A Comparative Analysis

International Journal of Language &Communication Disorders, Volume 61, Issue 5, September/October 2026.
ABSTRACT Objective This study aimed to compare phonological awareness and verbal working memory skills, as measured by a nonword repetition task, in children with speech sound disorders (SSD) and typically developing peers. It also examined the relationship between these two cognitive‐linguistic abilities within each group.
Özlem Icoz, Esra Özcebe
wiley   +1 more source