Results 121 to 130 of about 204,571 (299)

Towards the Clinical Application of Gene Therapy for Genetic Inner Ear Diseases. [PDF]

J Clin Med, 2023
Lahlou G, Calvet C, Giorgi M, Lecomte MJ, Safieddine S.   +4 more
europepmc   +1 more source

Long‐Term Follow Up of Two Patients With Variants in the Cluster 1031‐1159 of TRRAP Gene: Expanding the Phenotype of Developmental Delay With or Without Dysmorphic Facies and Autism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide, Vinicius Contrucci Dantas Segarra, Siulan Vendramini‐Pittoli, Henrique Regonaschi Serigatto, Luiza Virmond, Heloisa Marcelina da Cunha Palhares, Fernanda Jehee, Ana Cristina Victorino Krepischi, Carla Rosenberg, Carlos Henrique Paiva Grangeiro, Nancy Mizue Kokitsu‐Nakata   +10 more
wiley   +1 more source

Chemical Cauterisation versus Fat Plug Myringoplasty for Closure of Small Central Tympanic Membrane Perforation: A Prospective Interventional Study

Journal of Clinical and Diagnostic Research
Introduction: Perforation of the tympanic membrane is a commonly encountered problem in otolaryngology and often leads to conductive hearing loss as well as recurrent middle ear infections.
Paresh Chavan, Aishwarya Biradar, Vinod V Shinde, Mayur H Ingale, Madhura Gandhi   +4 more
doaj   +1 more source

Application of Nanomedicine in Inner Ear Diseases. [PDF]

Front Bioeng Biotechnol, 2021
Lin Q, Guo Q, Zhu M, Zhang J, Chen B, Wu T, Jiang W, Tang W.   +7 more
europepmc   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Pattern Of Ear Diseases Among Older People

, 2008
Background: The ageing process and the last stage of life is fulfilling for some and disappointing for others there is scarcity of information about the pattern of ear diseases in the older black African people, especially in Nigeria being the largest ...
Ijaduola, G.T.A., Afolabi, O.A.
core   +1 more source

Useful residual hearing despite radiological findings suggestive of anacusis

, 1999
A severe malformation of the inner ear, often referred to as severe labyrinthine dysplasia or common cavity deformity, consists of an absent or dilated cochlear basal coil, wide communication with the vestibule and a tapered internal acoustic meatus and ...
Mahoney, CO, Sirimanna, T, Bamiou, DE
core  

Profile of Ear Diseases among Elderly Patients in Sagamu, South-Western Nigeria

, 2013
BACKGROUND: The elderly constitute a vulnerable group which other people often misunderstand, misrepresent and are potentially prone to abuses and suboptimal care.
Sogebi, OA
core   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Deep Learning Techniques for Ear Diseases Based on Segmentation of the Normal Tympanic Membrane. [PDF]

Clin Exp Otorhinolaryngol, 2023
Park YS, Jeon JH, Kong TH, Chung TY, Seo YJ.   +4 more
europepmc   +1 more source