Results 191 to 200 of about 55,425 (230)

Novel Pathogenic Variant Confirms the Association of REST and Jones Syndrome

Clinical Genetics, Volume 109, Issue 1, Page 199-203, January 2026.
Jones syndrome (JS) is an ultra‐rare condition characterized by gingival fibromatosis and progressive sensorineural hearing loss. It has been associated with a pathogenic REST exon‐5 variant (c.2670_2673del) in a Finnish family. We describe the first Italian family with JS in which a novel pathogenic REST exon‐5 variant (c.2645T>G) was identified ...
Valentina Lodato, Massimo Galli, Giacomo D'Angeli, Irene Bottillo, Luca Celli, Rosaria Turchetta, Andrea Colizza, Francesca Gianno, Biagio Palmisano, Francesca Romana Federici Stanganelli, Maria Rita Bianco, Daniela Messineo, Eugenia Allegra, Paola Grammatico, Mara Riminucci, Alessandro Corsi   +15 more
wiley   +1 more source

Association between iron deficiency anemia and risk of hearing loss among female patients: a multi-institutional cohort study. [PDF]

Front Nutr
Chen IW, Yu TS, Lai YC, Chang YJ, Hung KC.   +4 more
europepmc   +1 more source

Four Cases of Idiopathic Sudden Sensorineural Hearing Loss.

, 1998
Taisuke Kurokawa, Kaori Yamaura
openalex   +2 more sources

Single‐Nucleus Transcriptomics Uncovers Xaf1‐Driven PANoptosis as a Therapeutic Target in Aminoglycoside‐Induced Hearing Loss

Cell Proliferation, Volume 59, Issue 1, January 2026.
Neomycin induces increased expression of Xaf1 in cochlear HCs, triggering PANoptosis, which encompasses pyroptosis, apoptosis and necroptosis (left). Targeted Xaf1 knockdown in HCs through gene therapy can significantly inhibit the occurrence of PANoptosis in HCs (right).
Xinlin Wang, Hairong Xiao, Jiheng Wu, Yanqin Lin, Yiheng Ao, Zixuan Ye, Xin Tan, Fanliang Kong, Xin Chen, Renjie Chai, Shasha Zhang   +10 more
wiley   +1 more source

Exploring the Predictive Role of Lexical Stress Discrimination in the Phonological and Grammatical Skills of Teenagers With Down Syndrome

Journal of Intellectual Disability Research, Volume 70, Issue 1, Page 48-57, January 2026.
ABSTRACT Background Temporal‐sampling theory suggests that lexical stress discrimination plays an important role in language disorders. This study explored whether this is also the case in Down syndrome (DS) and, particularly, whether lexical stress discrimination could contribute to accounting for the phonological and grammatical skills of teenagers ...
Elena López‐Riobóo, Pastora Martínez‐Castilla   +1 more
wiley   +1 more source

Cochlear implant in type 2 neurofibromatosis: an option for better hearing rehabilitation Implante coclear em neurofibromatose tipo 2: uma opção para melhor reabilitação auditiva

Brazilian Journal of Otorhinolaryngology, 2011
Oswaldo Laércio M Cruz, Eduardo A. S Vellutini   +1 more
doaj   +1 more source

Metabolomic profiling reveals potential biomarkers for sudden sensorineural hearing loss. [PDF]

Sci Prog
Wang X, Huang X, Zhang H, Ou Y, Chen S.
europepmc   +1 more source

Imaging for Sensorineural Hearing Loss

, 2010
Santosh Gupta
openalex   +1 more source

New cases of δ‐aminolevulinic acid dehydratase deficiency: Functional insights into gene variants using an innovative mouse liver model

Journal of Internal Medicine, Volume 299, Issue 1, Page 126-142, January 2026.
Abstract Background Dysfunction of δ‐aminolevulinic acid dehydratase (ALAD), the second enzyme involved in heme biosynthesis, leads to two pathologies: genetic and acquired. The genetic form is an ultrarare, severe childhood‐onset disease inherited in an autosomal recessive manner, whereas the acquired form usually affects adults due to enzyme ...
Elena Di Pierro, Isabel Solares, Daniel Jericó, Francisco J. Castelbón, Javier Tomás Solera, Antoni Riera‐Mestre, María Barreda‐Sánchez, Carlo Poci, Annamaria Nicolli, Francesco Urigo, Ana Sampedro, Rafael Enríquez de Salamanca, Matteo Marcacci, Matías A. Ávila, Pauline Harper, Marta G. Fanlo‐Maresma, Encarna Guillén‐Navarro, Giovanna Graziadei, Andrea Wenzel, Bodo B. Beck, Paolo Ventura, Montserrat Morales‐Conejo, Antonio Fontanellas   +22 more
wiley   +1 more source

Hypergonadotropic Hypogonadism, Progressive Early-Onset Spinocerebellar Ataxia, and Late-Onset Sensorineural Hearing Loss: Case Report and Literature Review

Balkan Journal of Medical Genetics, 2011
Sarikaya E, Ensert C, Gulerman H
doaj   +1 more source