Cochlear Implantation From the Perspective of Genetic Background
The Anatomical Record, Volume 303, Issue 3, Page 563-593, March 2020., 2020 ABSTRACT While cochlear implantation (CI) technology has greatly improved over the past 40 years, one aspect of CI that continues to pose difficulties is the variability of outcomes due to numerous factors involved in postimplantation performance. The electric acoustic stimulation (EAS) system has expanded indications for CI to include patients with ...
Shin‐ichi Usami +4 more
wiley +1 more source
Development of the stria vascularis and potassium regulation in the human fetal cochlea : insights into hereditary sensorineural hearing loss [PDF]
, 2015 Sensorineural hearing loss (SNHL) is one of the most common congenital disorders in humans, afflicting one in every thousand newborns. The majority is of heritable origin and can be divided in syndromic and nonsyndromic forms. Knowledge of the expression
Chuva de Sousa Lopes, Susana Marina +5 more
core +2 more sources
Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis. [PDF]
, 2019 BACKGROUND: Bartter Syndrome is a rare, genetically heterogeneous, mainly autosomal recessively inherited condition characterized by hypochloremic hypokalemic metabolic alkalosis.
A Bettinelli +49 more
core +3 more sources
A novel pathogenic variant in the MARVELD2 gene causes autosomal recessive non-syndromic hearing loss in an Iranian family [PDF]
, 2018 BACKGROUND AND AIMS: Hearing loss (HL) is the most common sensorineural disorder and one of the most common human defects. HL can be classified according to main criteria, including: the site (conductive, sensorineural and mixed), onset (pre-lingual ...
Hashemzadeh-Chaleshtori, Morteza +7 more
core +1 more source
Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects
BMC Medical Genetics, 2018 Background Mutations in the SLC26A4 gene are associated with Pendred syndrome and autosomal recessive non-syndromic deafness (DFNB4). Both disorders have similar audiologic characteristics: bilateral hearing loss, often severe or profound, which may be ...
Renata Watanabe Nonose +5 more
doaj +1 more source
Contribution of GJB2 mutations and Four common DFNB loci in autosomal recessive non-syndromic hearing impairment in Markazi and Qom provinces of Iran [PDF]
, 2009 This study aimed to investigate the contribution of four common DFNB ("DFN" for deafness and "B" for autosomal resessive locus) loci and GJB2 gene mutations (exon 2) in hearing impairment in individuals living in Markazi and Qom provinces of Iran.
Alasti, Fatemeh. +5 more
core
Síndrome de Pendred causada por mutação em homozigoze no gene SLC26A4 em uma família brasileira consangüínea [PDF]
, 2008 Pendred Syndrome (PS) is an autossomal recessive disorder characterized by sensorineural deafness, goiter and iodide organification defect. The hearing loss is associated with inner ear abnormalities, ranging from an isolated enlarged vestibular aqueduct
Bahmad Júnior, Fayez +12 more
core +1 more source
The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness [PDF]
, 2015 Objective: To determine the prevalence and types of SLC26A4 mutations and the relevant phenotypes in a series of Iranian deaf patients. Design: A descriptive laboratory study.
Azadegan-Dehkordi, Fatemeh. +5 more
core
A novel variant of SLC26A4 and first report of the c.716T>A variant in Iranian pedigrees with non-syndromic sensorineural hearing loss [PDF]
, 2018 The autosomal recessive non-syndromic hearing loss (ARNSHL) can be associated with variants in solute carrier family 26, member 4 (SLC26A4) gene and is the second most common cause of ARNSHL worldwide.
Ahmadi, R +6 more
core
The Study of SLC26A4 Gene Causing Autosomal Recessive Hearing Loss by Linkage Analysis in a Cohort of Iranian Populations. [PDF]
, 2014 Sensorineural non-syndromic hearing loss is the most common disorder which affects 1 in 500 newborns. Hearing loss is an extremely heterogeneous defect with more than 100 loci identified to date.
Ahmadian, Shahla. +9 more
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