نتایج جستجو برای: Autosomal recessive non-syndromic hearing loss

تعداد نتایج: 1782138  

Journal: :iranian journal of public health 0
r sasanfar a tolouei a hoseinipour dd farhud m dolati l hoghooghi rad

the 35delg mutation in the connexin 26 gene (cx26), at the dnfb1 locus is the most common mutation in the patients with autosomal recessive non-syndromic hearing loss (arnshl). we have studied a total of 224 deaf cases from 189 families in two populations of iran (sistan va bluchestan and hormozgan provinces) by prescreening nested pcr, polyacrylamide gel electrophoresis and consequent direct s...

Journal: :iranian journal of public health 0
m hashemzadeh chaleshtori dd farhud r taylor v hadavi ma patton ar afzal

mutations in the gjb2 gene at the dfnb1 locus on chromosome 13q12 are associated with autosomal recessive non syndromic hearing loss (arnshl) in many populations. a single mutation, at position 35 (35delg) accounts for approximately 30-63% of mutations in white populations with a carrier frequency of 1.5-2.5% in most european, north american and mediterranean populations. in this study we have ...

Journal: :genetics in the 3rd millennium 0
mojgan babanejad mohammad reza akbari nooshin nikzat1 sanaz arzhangi hossein najmabadi kimia kahrizi

introduction: with prevalence figures close to 0.2% at birth, hearing loss (hl) is the most frequent sensory impairment in childhood. in developed countries, genetic causes account for more than 60% of congenital hl, most often resulting in non-syndromic deafness, which is usually autosomal recessive. hereditary nonsyndromic hearing loss (nshl) in iran is highly heterogeneous, rendering molecul...

Journal: :iranian journal of biotechnology 2009
abdorrahim sadeghi mohammad hossein sanati fatemeh alasti 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...

Journal: :iranian journal of public health 0
marjan masoudi najmeh ahangari ali akbar poursadegh zonouzi ahmad poursadegh zonouzi *azim nejatizadeh

background: autosomal recessive non-syndromic hearing loss (arnshl) is the most common hereditary form of deafness, and exhibits a great deal of genetic heterogeneity. so far, more than seventy various dfnb loci have been mapped for arnshl by linkage analysis. the contribution of three common dfnb loci including dfnb3, dfnb9, dfnb21 and gap junction beta-2 (gjb2) gene mutations in arnshl was in...

Journal: :iranian rehabilitation journal 0
reihaneh alikhani genetic research center, university of social welfare and rehabilitation sciences, tehran, iran. fatemeh ostaresh genetic research center, university of social welfare and rehabilitation sciences, tehran, iran. mojgan babanejad genetic research center, university of social welfare and rehabilitation sciences, tehran, iran. nilofar bazazzadegan genetic research center, university of social welfare and rehabilitation sciences, tehran, iran. hossein najmabadi genetic research center, university of social welfare and rehabilitation sciences, tehran, iran. kimia kahrizi genetic research center, university of social welfare and rehabilitation sciences, tehran, iran.

objectives: hearing loss (hl) is the most common sensory disorder, and affects 1 in 1000 newborns. about 50% of hl is due to genetics and 70% of them are non-syndromic with a recessive pattern of inheritance. up to now, more than 50 genes have been detected which are responsible for autosomal recessive non-syndromic hearing loss, (arnshl). in  iran, hl is one of the most common disabilities due...

A Astani AR Asadi C Nishimura H Najmabadi H Ziaaddini K Kahrizi Kh Jalalvand M Mohseni M Nejat N Bazazzadegan N Mirhoseini RJH Smith S Arzhangi Y Riazalhosseini

Congenital hearing loss with many genetic and environmental causes affects 1 in 1000 newborns. Mutations in the GJB2(Gap Junction Beta-2) gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive non-syndromic hearing loss. The aim of this study was to study the frequency of one mutation (35delG) of GJB2 gene in Kerman non-syndromic deaf p...

Journal: :Journal of medical genetics 2002
V Migliosi S Modamio-Høybjør M A Moreno-Pelayo M Rodríguez-Ballesteros M Villamar D Tellería I Menéndez F Moreno I Del Castillo

Inherited hearing impairment is a highly heterogeneous group of disorders with an overall incidence of about 1 in 2000 newborns. Among them, prelingual, severe hearing loss with no other associated clinical feature (non-syndromic) is by far the most frequent. It represents a serious handicap for speech acquisition, and therefore early detection is essential for the application of palliative tre...

2002
V Migliosi S Modamio-Høybjør M A Moreno-Pelayo M Rodríguez-Ballesteros M Villamar I del Castillo

Inherited hearing impairment is a highly heterogeneous group of disorders with an overall incidence of about 1 in 2000 newborns. Among them, prelingual, severe hearing loss with no other associated clinical feature (non-syndromic) is by far the most frequent. It represents a serious handicap for speech acquisition, and therefore early detection is essential for the application of palliative tre...

Journal: :مجله دانشگاه علوم پزشکی کرمانشاه 0
nejat mahdieh genetic research center, university of social welfare & rehabilitation sciences, tehran, iran. karla nishimura genetic counseling center, welfare & rehabilitation organization of kermanshah, iran. kamran ali-madadi molecular otolaryngology research laboratories, department of otolaryngology, university of iowa, iowa city, ia, usa. hilda yazdan molecular otolaryngology research laboratories, department of otolaryngology, university of iowa, iowa city, ia, usa. saeid kazemi molecular otolaryngology research laboratories, department of otolaryngology, university of iowa, iowa city, ia, usa. yaser riazalhosseini genetic research center, university of social welfare & rehabilitation sciences, tehran, iran.

introduction: hearing loss is the most common sensory defect in humans, affecting approximately 1 in 1000 neonates in which genetic factors are involved in more than 50%. connexin 26 or gjb2 gene mutations are responsible for half of autosomal recessive non-syndromic hearing losses. the purpose of this study was to determine the gjb2 mutations frequency in autosomal recessive non-syndromic deaf...

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