Results 221 to 230 of about 76,904 (360)

Haploinsufficiency of Whrn Contributes to Progressive Sensorineural Hearing Loss in C57BL6 Mice. [PDF]

J Assoc Res Otolaryngol
Bae HG, Kashiwagura S, Jung A, Gould E, Kim JH.   +4 more
europepmc   +1 more source

Acute sensorineural hearing loss case suspected to be caused by auris interna hemorrhage.

, 1998
Shogo Shinohara
openalex   +2 more sources

The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series

Annals of Neurology, Volume 98, Issue 3, Page 561-572, September 2025.
Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker, Maria Novelli, Robert Coukos, Neha Prakash, Walaa A. Kamel, Marta Amengual‐Gual, Mathieu Anheim, Giulia Barcia, Tanya Bardakjian, Franciska Baur, Steffen Berweck, Bigna K. Bölsterli, Melanie Brugger, Thomas Cassini, Nicolas Chatron, Brian Corner, Hormos Salimi Dafsari, Jean‐Madeleine de Sainte Agathe, Colin A. Ellis, Kimberly M. Ezell, Cendrine Foucard, Steven J. Frucht, Maria C. Garcia, Deepak Gill, Anne Guimier, Rizwan Hamid, Damià Heine‐Suñer, Peter Herkenrath, Marie Hully, Ioannis U. Isaias, Louis Januel, Chloe Laurencin, Taylor Laut, Alinoe Lavillaureix, Gaetan Lesca, Marion Lesieur‐Sebellin, Luca Magistrelli, Cecilia Marelli, Heather C. Mefford, Bryce A. Mendelsohn, Saadet Mercimek‐Andrews, Claire Miller, Shekeeb S. Mohammad, Francesca Morgante, Sirisha Nandipati, Thomas Opladen, Mahesh Padmanaban, Micaela Pauni, Gianni Pezzoli, Amelie Piton, Francis Ramond, Giulietta M. Riboldi, Christelle Rougeot‐Jung, Fernando Santos‐Simarro, Ingrid E. Scheffer, Naoual Serari, Christine M. Stahl, Ann Stembridge Kung, Susana Tarongí Sanchez, Christel Thauvin‐Robinet, Marianne Till, Christine Tranchant, Christopher Troedson, Thomas F. Tropea, Olivier Vanakker, Patricia Vega, Maxi Leona Wiese, Udo Wieshmann, Laura J. Williams, Thomas Wirth, Michael Zech, Hans Zempel, Emmanuel Roze, Vincenzo Leuzzi, Serena Galosi, Victor S. C. Fung, Gemma Carvill, Dimitri Krainc, Elizabeth Gerard, Niccolò E. Mencacci   +79 more
wiley   +1 more source

Auricular Point Sticking for Patients with Sudden Sensorineural Hearing Loss: A Propensity Score Matching Analysis. [PDF]

Int J Gen Med
Ma D, Qian Q, Fan Y, Zuo Y, Ye L, Chen Y.   +5 more
europepmc   +1 more source

Clinical Application of High-frequency Audiometry: Evalution of Sensorineural Hearing Loss in Patients Treated with Cisplatin.

, 1998
Makoto Hanaguri, Kazumi Makishima, Masafumi Yoshida, Kazunobu Fujimura   +3 more
openalex   +2 more sources

Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss [PDF]

, 2001
Mark Houseman, Lucy Ellis, Alistair T. Pagnamenta, Wei‐Li Di, Sarah Rickard, Amelia H. Osborn, H Dahl, Graham R. Taylor, M. Bitner-Glindzicz, William Reardon, R F Mueller, David P. Kelsell   +11 more
openalex   +1 more source

Cortical Structure Abnormalities in Patients With Noise‐Induced Hearing Loss: A Surface‐Based Morphometry Study

Brain and Behavior, Volume 15, Issue 9, September 2025.
•To investigate the characteristics of brain structures in patients with noise‐induced hearing loss (NIHL) using source‐based morphometry (SBM). •To evaluate the correlation between abnormal brain regions and clinical data. •On the basis of the SBM method, complex cortical structural alterations in patients with NIHL predominantly involved the parietal
Yunxin Li, Ranran Huang, Aijie Wang, Liping Wang, Minghui Lv, Xianghua Bao, Guowei Zhang   +6 more
wiley   +1 more source

Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNA^Gln [PDF]

, 2001
Saara Finnilä, Jaana Autere, Maarit Lehtovirta, Päivi Hartikainen, Arto Mannermaa, Hilkka Soininen, Kari Majamaa   +6 more
openalex   +1 more source

Identification of A Novel Mutation of SHORT Syndrome: A Case Report

Clinical Case Reports, Volume 13, Issue 9, September 2025.
ABSTRACT SHORT syndrome is a rare inherited disease with 34 identified pathogenic or likely pathogenic PIK3R1 mutations. The genotype–phenotype relationship remains inconsistent. Our case presents the first novel duplication that affects up to 25 nucleotides and truncates the PI3K protein, contributing valuable data to genetic understanding and ...
Quynh Thi Vu Huynh, Tuong Trong Luong, Ho Tran Ban, Van Tran   +3 more
wiley   +1 more source

Comprehensive genetic profiling of sensorineural hearing loss using an integrative diagnostic approach. [PDF]

Cell Rep Med
Lee SY, Lee S, Park S, Jung SH, Yun Y, Choi WH, Cha JH, Yun H, Lee S, Suh MW, Park MK, Song JJ, Choi BY, Lee JH, Kang TM, Ju YS, Koh JY, Chae JH.   +17 more
europepmc   +1 more source