Cargando…

Postlingual Hearing Loss as a Mitochondrial 3243A>G Mutation Phenotype

BACKGROUND: The prevalence of isolated hearing loss (HL) associated with the m.3243A>G mutation is unknown. The aim of this study was to assess the frequency and heteroplasmy level of the m.3243A>G mutation in a large group of Polish patients with postlingual bilateral sensorineural HL of unid...

Descripción completa

Detalles Bibliográficos
Autores principales:	Iwanicka-Pronicka, Katarzyna, Pollak, Agnieszka, Skórka, Agata, Lechowicz, Urszula, Pajdowska, Magdalena, Furmanek, Mariusz, Rzeski, Maciej, Korniszewski, Lech, Skarżyński, Henryk, Płoski, Rafał
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2012
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3485002/ https://www.ncbi.nlm.nih.gov/pubmed/23133508 http://dx.doi.org/10.1371/journal.pone.0044054

Ejemplares similares

Audio Profiles in Mitochondrial Deafness m.1555A>G and m.3243A>G Show Distinct Differences
por: Iwanicka-Pronicka, Katarzyna, et al.
Publicado: (2015)

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss
por: Pollak, Agnieszka, et al.
Publicado: (2016)

Application of next-generation sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss
por: Lechowicz, Urszula, et al.
Publicado: (2018)

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss
por: Pollak, Agnieszka, et al.
Publicado: (2017)

Health-related quality of life in adults with profound postlingual hearing loss before and after cochlear implantation
por: Rostkowska, Joanna, et al.
Publicado: (2021)

Tinnitus in patients with hearing loss due to mitochondrial DNA pathogenic variants
por: Lechowicz, Urszula, et al.
Publicado: (2018)

Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome
por: Ołdak, Monika, et al.
Publicado: (2017)

Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss
por: Ołdak, Monika, et al.
Publicado: (2019)

TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss
por: Oziębło, Dominika, et al.
Publicado: (2021)

Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen
por: Lechowicz, Urszula, et al.
Publicado: (2017)

Advances in genetic hearing loss: CIB2 gene
por: Jacoszek, Agnieszka, et al.
Publicado: (2016)

Quality of life and cochlear implant: results in adults with postlingual hearing loss()
por: Sousa, Aline Faria de, et al.
Publicado: (2017)

Posttraumatic Growth in Postlingually Deaf Patients With Cochlear Implants: The Effect of Stress-Coping Strategies, Sociodemographics, and Deafness-Related Factors
por: Kobosko, Joanna, et al.
Publicado: (2021)

The Genetic Background of Hearing Loss in Patients with EVA and Cochlear Malformation
por: Bałdyga, Natalia, et al.
Publicado: (2023)

Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss
por: Lechowicz, Urszula, et al.
Publicado: (2015)

Evaluation of electrocardiographic parameters in patients with hearing loss genotyped for the connexin 26 gene (GJB2) mutations()
por: Sanecka, Agnieszka, et al.
Publicado: (2016)

New perspective in diagnostics of mitochondrial disorders: two years’ experience with whole-exome sequencing at a national paediatric centre
por: Pronicka, Ewa, et al.
Publicado: (2016)

Long-Term Asymmetric Hearing Affects Cochlear Implantation Outcomes Differently in Adults with Pre- and Postlingual Hearing Loss
por: Boisvert, Isabelle, et al.
Publicado: (2015)

Hearing Aid Use in Older Adults With Postlingual Sensorineural Hearing Loss: Protocol for a Prospective Cohort Study
por: Hughes, Matthew E, et al.
Publicado: (2018)

Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans
por: Kim, Bong Jik, et al.
Publicado: (2016)

In Vivo Basilar Membrane Time Delays in Humans
por: Polak, Marek, et al.
Publicado: (2022)

A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment
por: Gandía, Marta, et al.
Publicado: (2013)

Hearing Loss as the Main Clinical Presentation in NLRP3-Associated Autoinflammatory Disease
por: Oziębło, Dominika, et al.
Publicado: (2022)

Comparison of 3 ABR Methods for Diagnosis of Retrocochlear Hearing Impairment
por: Kochanek, Krzysztof M., et al.
Publicado: (2015)

Correction: A Novel Splice-Site Mutation in the GJB2 Gene Causing Mild Postlingual Hearing Impairment
por: Gandía, Marta, et al.
Publicado: (2014)

Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith–Kingsmore Phenotype with Recurrent Hypoglycemia—A Novel Phenotype and a Further Proof for Testing of an Affected Tissue
por: Szczałuba, Krzysztof, et al.
Publicado: (2021)

Temporal processing in postlingual adult users of cochlear implant()()
por: Duarte, Maycon, et al.
Publicado: (2015)

Can an individual with low frequency hearing in the candidate ear benefit from a cochlear implant even if they have normal hearing in the other ear?
por: Lorens, Artur, et al.
Publicado: (2023)

Sequencing of exons 4, 5, 12 of COCH gene in patients with postlingual sensorineural hearing loss accompanied by vestibular lesion
por: Mielczarek, Marzena, et al.
Publicado: (2016)

Audiovisual Temporal Processing in Postlingually Deafened Adults with Cochlear Implants
por: Butera, Iliza M., et al.
Publicado: (2018)

Implicit Processing of Pitch in Postlingually Deafened Cochlear Implant Users
por: Tillmann, Barbara, et al.
Publicado: (2019)

Analysis of the auditory processing skills in 1,012 children aged 6–9 confirms the adequacy of APD testing in 6-year-olds
por: Guzek, Anna, et al.
Publicado: (2022)

Auditory Discrimination—A Missing Piece of Speech and Language Development: A Study on 6–9-Year-Old Children with Auditory Processing Disorder
por: Guzek, Anna, et al.
Publicado: (2023)

Multi-Frequency Intraoperative Monitoring of Hearing Preservation during Cochlear Implantation
por: Skarżyński, Piotr Henryk, et al.
Publicado: (2022)

The molecular etiology of deafness and auditory performance in the postlingually deafened cochlear implantees
por: Lee, Sang-Yeon, et al.
Publicado: (2020)

Benefits of Binaural Integration in Cochlear Implant Patients with Single-Sided Deafness and Residual Hearing in the Implanted Ear
por: Lorens, Artur, et al.
Publicado: (2021)

The Oticon Ponto System in Adults With Severe-to-Profound and Mixed Hearing Loss: Audiologic Outcomes and Patient Satisfaction
por: Skarzynski, Piotr Henryk, et al.
Publicado: (2022)

Radiologic measurement of cochlea and hearing preservation rate using slim straight electrode (CI422) and round window approach
por: SKARZYNSKI, H., et al.
Publicado: (2018)

Prenatal Diagnosis of Jeune Syndrome Caused by Compound Heterozygous Variants in DYNC2H1 Gene—Case Report with Rapid WES Procedure and Differential Diagnosis of Lethal Skeletal Dysplasias
por: Stembalska, Agnieszka, et al.
Publicado: (2022)

Auditory processing in normally hearing individuals with and without tinnitus: assessment with four psychoacoustic tests
por: Raj-Koziak, Danuta, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_tp3ngpjrklt53cernv5cju7di3