نتایج جستجو برای: جهش 35delg

تعداد نتایج: 3257  

2013
Khalid Al-Sebeih Marium Al-Kandari Sadika A. Al-Awadi Fatma F. Hegazy Ghada A. Al-Khamees Kamal K. Naguib Reem M. Al-Dabbous

OBJECTIVE To study connexin 26 (Cx26) gene mutations among autosomal recessive non-syndromal hearing loss in Kuwaiti patients and evaluate their effect on phenotypes. SUBJECTS AND METHODS This cross sectional study included 100 patients aged between 6 months and 18 years, who were referred to the Sheikh Salem Al-Ali Centre for audiology and speech evaluation of autosomal recessive non-syndrom...

Journal: :BMC Ear, Nose and Throat Disorders 2005
Igor Medica Gorazd Rudolf Manuela Balaban Borut Peterlin

BACKGROUND C.35delG/GJB2 mutation is the most frequent genetic cause of deafness in Caucasians. Another frequent mutation in some Caucasian populations is del(GJB6-D13S1830). Both GJB2 and GJB6 genes belong to the same DFNB1 locus and when the two mutations are found in combination in a hearing-impaired person, a digenic pattern of inheritance is suggested. METHODS We examined 63 Croatian sub...

Journal: :Clinical genetics 2010
E Wilch H Azaiez R A Fisher J Elfenbein A Murgia R Birkenhäger H Bolz S M Da Silva-Costa I Del Castillo T Haaf L Hoefsloot H Kremer C Kubisch C Le Marechal A Pandya E L Sartorato E Schneider G Van Camp W Wuyts R J H Smith K H Friderici

Eleven affected members of a large German-American family segregating recessively inherited, congenital, non-syndromic sensorineural hearing loss (SNHL) were found to be homozygous for the common 35delG mutation of GJB2, the gene encoding the gap junction protein Connexin 26. Surprisingly, four additional family members with bilateral profound SNHL carried only a single 35delG mutation. Previou...

Journal: :iranian journal of public health 0
"m hashemzadeh chaleshtori m dowlati dd farhud l hoghooghi rad r sasanfar a hoseinipour m montazer zohour

mutations in the gjb2 gene encoding connexin 26 (cx26) protein are a major cause for autosomal recessive non syndromic and sporadic deafness in many populations. in this study we have investigated the prevalence of the gjb2 gene mutations using nested pcr pre screening strategy and direct sequencing method. two hundred and sixty autosomal recessive non syndromic and sporadic deaf subjects from ...

2014
Emin Kaskalan Ebru Etem Önalan İrfan Kaygusuz Turgut Karlıdağ Erol Keleş Abdulvahap Akyiğit Şinasi Yalçın

South European cases with autosomal recessive inherited hearing loss (4,8). The frequent incidence of the 35delG mutation requires analyzing both affected individuals and parents (in terms of being carriers) for genetic counseling. The aim of this study was to determine the frequency of GJB2 gene mutations in patients with congenital NSSNHL and to investigate new mutations of the GJB2 gene in o...

2011
AA Peyvandi S Morovvati HR Rabiee R Ranjbar M Ajalloueyan M Hassanalifard

The 35delG mutation in the gap junction protein, β2, 26kDa (GJB2) gene is the most common mutation that has been found in children with non syndromic hearing loss. Testing for the GJB2 gene mutation is simple and can directly answer the concerns of the parents about cause of the disorder and prognosis for their children. Cochlear implantation (CI) is one of the methods of hearing rehabilitation...

2015
Igor Medica Gorazd Rudolf Manuela Balaban Borut Peterlin

Background: C.35delG/GJB2 mutation is the most frequent genetic cause of deafness in Caucasians. Another frequent mutation in some Caucasian populations is del(GJB6-D13S1830). Both GJB2 and GJB6 genes belong to the same DFNB1 locus and when the two mutations are found in combination in a hearing-impaired person, a digenic pattern of inheritance is suggested. Methods: We examined 63 Croatian sub...

Journal: :مجله دانشگاه علوم پزشکی شهید صدوقی یزد 0
مهدی مغنی باشی m moghannibashi حسین خدایی h khodaie مرتضی سیفتی m seifati محمود میراب m mirab کیمیا کهریزی k kahrizi یاسر ریاض الحسینی y riazzalhoseini عاطفه دهقانی

introduction: hearing loss is the most common sensory neural defect in humans, affecting 1 in 1000 neonates, with over half of these cases predicted to be hereditary in nature. most hereditary hearing loss is inherited in a recessive fashion, accounting for approximately 80 % of non-syndromic hearing loss (nshl). mutations in gjb2 gene are major cause of inherited deafness in the european and a...

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 ...

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