Results 41 to 50 of about 1,143,125 (138)

Segmental Maternal UPD of Chromosome 7q in a Patient With Pendred and Silver Russell Syndromes-Like Features

Frontiers in Genetics, 2018
Pendred syndrome (PS) is an autosomal recessive disorder due to mutations in the SLC26A4 gene (chr7q22. 3) and characterized by sensorineural hearing loss and variable thyroid phenotype.
Valentina Cirello, Valentina Giorgini, Chiara Castronovo, Susan Marelli, Ester Mainini, Alessandra Sironi, Alessandra Sironi, Maria Paola Recalcati, Marco Pessina, Daniela Giardino, Lidia Larizza, Luca Persani, Luca Persani, Palma Finelli, Palma Finelli, Silvia Russo, Laura Fugazzola, Laura Fugazzola   +17 more
doaj   +1 more source

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border

Clinical Genetics, Volume 110, Issue 5, Page 627-636, November 2026.
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart, Michelle Gray, Roberta Sierra, Camille Maldonado, Daniel Brooks, Hongzheng Dai, Aaly Rahimtoola, Sandy Magallan, Sarah Rodriguez, Jose Gamez, Pattie Rosenlund, Surya N. Mulukutla, Alberto Allegre, Lori Berry, Brendan Lee, Daryl A. Scott, Blake Vuocolo, Seema R. Lalani   +17 more
wiley   +1 more source

Hoff Mann′s syndrome with unusually long duration: Report on clinical, laboratory and muscle imaging findings in two cases

Annals of Indian Academy of Neurology, 2014
Two adult men presented with the rare Hoffmann′s syndrome (HS). Case 1: A 35-year-old male patient had progressive stiffness of lower limbs of 13 years and generalized muscle hypertrophy and myalgia of 3 years duration.
Atchayaram Nalini, C. Govindaraju, Pramila Kalra, Prashanth Kadukar   +3 more
doaj   +1 more source

Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review

Audiology Research, 2021
Hearing loss is the most common sensorial deficit in humans and one of the most common birth defects. In developed countries, at least 60% of cases of hearing loss are of genetic origin and may arise from pathogenic sequence alterations in one of more ...
Sebastian Roesch, Gerd Rasp, Antonio Sarikas, Silvia Dossena   +3 more
doaj   +1 more source

The incidence of enlarged vestibular aqueduct among hearing-impaired children: hospital-based tertiary care referral center

The Egyptian Journal of Otolaryngology, 2022
Background The most common radiologically detectable congenital inner ear anomaly is an enlarged vestibular aqueduct (EVA), which is associated with varying degrees of hearing loss and vestibular disorders.
Mohamed Mohamed Elmoursy
doaj   +1 more source

Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population‐Specific Variants and Clinical Correlations

Clinical Genetics, Volume 110, Issue 2, Page 210-226, August 2026.
The Burden: Hearing loss (HL) is the most prevalent sensory disorder globally, affecting 1.5 million individuals in Brazil. The Gap: While > 150 genes are linked to HL, the genetic architecture in underrepresented populations like Brazil is poorly defined. The Problem: This lack of data limits diagnostic yield and the application of precision medicine.
Stella Diogo‐Cavassana, Danillo Alencar‐Coutinho, Rafaella Abreu‐Oberhuber, Maria Eduarda Paramo‐Neto, Jeanne Oiticica, Ricardo Ferreira Bento, Ana Carla Batissoco, Karina Lezirovitz   +7 more
wiley   +1 more source

SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct

BMC Medical Genetics, 2019
Background Recessive mutations of coding regions and splice sites of the SLC26A4 gene cause hearing loss with enlargement of the vestibular aqueduct (EVA).
Janet R. Chao, Parna Chattaraj, Tina Munjal, Keiji Honda, Kelly A. King, Christopher K. Zalewski, Wade W. Chien, Carmen C. Brewer, Andrew J. Griffith   +8 more
doaj   +1 more source

Custom Next‐Generation Sequencing Identifies Novel Mutations Expanding the Molecular and clinical spectrum of isolated Hearing Impairment or along with defects of the retina, the thyroid, and the kidneys

Molecular Genetics & Genomic Medicine, 2022
Background In the Tunisian population, the molecular analysis of hearing impairment remains based on conventional approaches, which makes the task laborious and enormously expensive.
Mariem Ben Said, Ikhlas Ben Ayed, Ines Elloumi, Mehdi Hasnaoui, Amal Souissi, Nabil Idriss, Hajer Aloulou, Imen Chabchoub, Bayen Maâlej, Dorra Driss, Saber Masmoudi   +10 more
doaj   +1 more source

Advances in the Treatment of Sensorineural Hearing Loss: From Traditional Therapies to Stem Cell and Gene Therapies

Advanced Sensor Research, Volume 5, Issue 4, April 2026.
Sensorineural hearing loss (SNHL) occurs in 1.5 billion globally, primary driven by damage of cochlear hair cells and spiral ganglion neurons. This review systematically examines current therapeutic strategies for sensorineural hearing loss, including traditional drug and physical therapies as well as emerging stem cell and gene therapies, providing a ...
Ruirui Chen, Yang Zhang, Zhe Li, Renjie Chai   +3 more
wiley   +1 more source

Developmental Expression of Membrane Pumps and Ion Channels in Human Vestibular Endolymph Homeostasis

Developmental Neurobiology, Volume 86, Issue 1, January 2026.
ABSTRACT The expression patterns of key membrane pumps and ion channels involved in endolymph cycling have been studied in the rodent inner ear and the developing and adult human cochlea. However, little is known about their expression during the development of the human vestibular system.
Edward S. A. van Beelen, Wouter H. van der Valk, John C. M. J. de Groot, Peter Paul G. van Benthem, Heiko Locher   +4 more
wiley   +1 more source