نتایج جستجو برای: non syndromic hearing loss

تعداد نتایج: 1750556  

Journal: :European Journal of Human Genetics 2018

Ahmad Yousefi, Marziyeh Abolhasani, Mohammad Amin Tabatabaeifar, Morteza Hashemzadeh Chaleshtori, Nasrin Yazdanpanahi, Seyyed Ali Asghar Sefidgar, Seyyed Hossein Taghizadeh, Seyyed Mohammad Lesani, Seyyed Reza Kazeminezhad,

Hearing loss (HL) is the most frequent sensory defect affecting 1 in 1000 neonates. This can occur due to genetic or environmental causes or both. The genetic causes are very heterogenous and over 100 loci have been identified to cause autosomal recessive non - syndromic hearing loss (ARNSHL). The aim of this study was to determine the contribution of the LRTOMT gene mutations in causing ARNSHL...

Journal: :genetics in the 3rd millennium 0
تارا اخترخاوری tara akhtarkhavari مژگان بابا نژاد mojgan babanejad مرضیه محسنی marzieh mohseni خدیجه جلالوند khadijeh jalalvand حسین نجم آبادی hossein najmabadi کیمیا کهریزی kimia kahrizi

heredity hearing loss (hl) is the most prevalent sensory disorder and most cases are non-syndromic. eighty percent of non-syndromic sensorineural deaf patients show an autosomal recessive pattern of inheritance. to date, 47 genes and 98 loci have been reported for this mode of inheritance. previous studies in our center showed the high prevalence of dfnb3 among iranian deaf families. pjvk (dfnb...

2012
Shamima Rahman Russell Ecob Harry Costello Mary G Sweeney Andrew J Duncan Kerra Pearce David Strachan Andrew Forge Adrian Davis Maria Bitner-Glindzicz

Background The mitochondrial DNA mutation m.1555A>G predisposes to permanent idiosyncratic aminoglycoside-induced deafness that is independent of dose. Research suggests that in some families, m.1555A>G may cause non-syndromic deafness, without aminoglycoside exposure, as well as reduced hearing thresholds with age (age-related hearing loss). Objectives To determine whether adults with m.1555A...

2017
Jernej Kovač Gašper Klančar Katarina Trebušak Podkrajšek Saba Battelino

Sensorineural hearing loss (SNHL) is a heterogeneous family of hearing disabilities with congenital (including genetic) as well as acquired etiology. Congenital SNHL of genetic etiology is further sub-divided into autosomal dominant, autosomal recessive and X-linked SNHL. More than 60 genes are involved in the etiology of autosomal recessive non-syndromic hearing loss (ARNSHL) commonly manifest...

Abdorrahim Sadeghi Fatemeh Alasti Mitra Ataei Mohammad Hossein Sanati, Morteza Hashemzadeh Chaleshtori Saeid Mahmoudian

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. Forty consanguineous Iranian families with at least three affected individuals in family or pedigree who suffer from an autosomal recessive non-syndr...

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