نتایج جستجو برای: dfnb2

تعداد نتایج: 20  

Journal: :Human molecular genetics 1996
Y Tamagawa K Kitamura T Ishida K Ishikawa H Tanaka S Tsuji M Nishizawa

Hereditary hearing loss is divided into two groups, syndromic and non-syndromic, the latter being more common and highly heterogeneous. Linkage analyses were performed on a Japanese family showing a dominant form of non-syndromic progressive sensorineural hearing loss. This gene (DFNA11) was localized within the region of chromosome 11q which contains the second gene for a recessive form of non...

2017
Samira ASGHARZADE Somayeh REIISI Mohammad Amin TABATABAIEFAR Morteza HASHEMZADEH CHALESHTORI

BACKGROUND Hearing loss (HL) is the most frequent neurosensory impairment. HL is highly heterogeneous defect. This disorder affects 1 out of 500 newborns. This study aimed to determine the role of DFNB2 locus and frequency of MYO7A gene mutations in a population from west of Iran. METHODS Thirty families investigated in Shahrekord University of Medical Sciences in 2014, genetic linkage analys...

Journal: :Human molecular genetics 1996
K A Brown A H Janjua G Karbani G Parry A Noble G Crockford D T Bishop V E Newton A F Markham R F Mueller

Autosomal recessive non-syndromal hearing impairment (NSRD) is genetically heterogeneous. Five loci have been identified to date which map to chromosomes 13 (DFNB1), 11 (DFNB2), 17 (DFNB3), 7 (DFNB4) and 14 (DFBN5). We report definite linkage of NSRD to the locus DFNB1 in a single family of 27 families studied of Pakistani origin. Haplotype analysis of markers in the pericentromeric region of c...

Journal: :iranian journal of public health 0
samira asgharzade somayeh reiisi mohammad amin tabatabaiefar morteza hashemzadeh chaleshtori

background: hearing loss (hl) is the most frequent neurosensory impairment. hl is highly heterogeneous defect. this disorder affects 1 out of 500 newborns. this study aimed to determine the role of dfnb2 locus and frequency of myo7a gene mutations in a population from west of iran. methods: thirty families investigated in shahrekord university of medical sciences in 2014, genetic linkage analys...

2010
Imen Ben Rebeh Madeleine Morinière Leila Ayadi Zeineb Benzina Ilhem Charfedine Jamel Feki Hammadi Ayadi Abdelmonem Ghorbel Faouzi Baklouti Saber Masmoudi

PURPOSE Recessive mutations of the myosin VIIA (MYO7A) gene are reported to be responsible for both a deaf-blindness syndrome (Usher type 1B [USH1B] and atypical Usher syndrome) and nonsyndromic hearing loss (HL; Deafness, Neurosensory, Autosomal Recessive 2 [DFNB2]). The existence of DFNB2 is controversial, and often there is no relationship between the type and location of the MYO7A mutations...

ژورنال: :مجله دانشگاه علوم پزشکی اراک 0
پریسا طهماسبی parisa tahmasebi department of genetics, shahid chamran university of ahvaz, ahvaz, iran.گروه ژنتیک، دانشگاه شهید چمران اهواز ،اهواز ،ایران. سیدرضا کاظمی نژاد seyed reza kazemi nezhad department of genetics, shahid chamran university of ahvaz, ahvaz, iran.گروه ژنتیک، دانشگاه شهید چمران اهواز ،اهواز ،ایران.سازمان اصلی تایید شده: دانشگاه شهید چمران (shahid chamran university) محمدامین طباطبایی فر mohammad amin tabatabaiefar department of genetics and molecular biology, isfahan university of medical sciences, isfahan, iran.گروه ژنتیک و بیولوژی مولکولی، دانشگاه علوم پزشکی اصفهان،اصفهان،ایران.سازمان اصلی تایید شده: دانشگاه شهید چمران (shahid chamran university) جواد محمدی اصل javad mohammadi asl department of medical genetics, ahvaz jundishapur university of medical sciences, ahvaz, iran.گروه ژنتیک پزشکی، دانشگاه علوم پزشکی جندی شاپور اهواز، اهواز،ایران.سازمان اصلی تایید شده: دانشگاه علوم پزشکی اصفهان (isfahan university of medical sciences) نادر صاکی nader saki department of otolaryngology, ahvaz jundishapur university of medical sciences, ahvaz, iran.گروه گوش ،حلق وبینی، دانشگاه علوم پزشکی جندی شاپوراهواز، اهواز،ایران.سازمان اصلی تایید شده: دانشگاه علوم پزشکی جندی شاپور اهواز (ahvaz jundishapur university of medical sciences)

زمینه و هدف: ناشنوایی یک نقص حسی رایج در انسان است که نیمی از موارد آن به دلایل ژنتیکی است.  ناشنوایی ژنتیکی به انواع نشانگانی و غیر نشانگانی تقسیم می شود که 80 درصد موارد غیر نشانگانی از نوع ناشنوایی غیر نشانگانی اتوزومی مغلوب می باشند. هدف از پژوهش حاضر تعیین سهم لوکوس dfnb2 (ژن myo7a) در ایجاد ناشنوایی اتوزومی مغلوب در گروهی از خانواده های ناشنوای استان خوزستان می باشد. مواد و روش ها: این مط...

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...

2017
Amina Bakhchane Majida Charif Amale Bousfiha Redouane Boulouiz Halima Nahili Hassan Rouba Hicham Charoute Guy Lenaers Abdelhamid Barakat

The MYO7A gene encodes a protein belonging to the unconventional myosin super family. Mutations within MYO7A can lead to either non syndromic hearing loss or to the Usher syndrome type 1B (USH1B). Here, we report the results of genetic analyses performed on Moroccan families with autosomal recessive non syndromic hearing loss that identified two families with compound heterozygous MYO7A mutatio...

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...

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