نتایج جستجو برای: del
تعداد نتایج: 239857 فیلتر نتایج به سال:
مقدمه: نا شنوایی یکی از شایع ترین اختلالات حسی- عصبی با فراوانی 1 در 1000 نوزاد می باشد و در دو حالت سندرمی و غیر سندرمی دیده می شود. با توجه به این که جهشهای جایگاه ژنی DFNB1، در بر گیرنده دو ژن کانکسین 26 و 30، به تنهایی مسئول 50 درصد نا شنوایی های غیر سندرمی با الگوی وراثتی اتوزومی مغلوب در جمعیت های مختلف می باشند، هدف مطالعه حاضر بررسی جهشهای حذفی del (GJB6-D13S1830) و del (GJB6-D1...
(Sb2)m–Sb2Te3 Superlattice Series J. C. Johannsen,1, ∗ G. Autès,2, 3, ∗ A. Crepaldi,4, ∗ S. Moser,1 B. Casarin,4, 5 F. Cilento,4 M. Zacchigna,4 H. Berger,1 A. Magrez,1 Ph. Bugnon,1 J. Avila,6 M. C. Asensio,6 F. Parmigiani,4, 5, 7 O. V. Yazyev,2, 3 and M. Grioni1, † 1Institute of Condensed Matter Physics, Ecole Polytechnique Fédérale de Lausanne (EPFL), CH-1015 Lausanne, Switzerland 2Institute o...
M. Chaichian†, A. Demichev†,a P. Prešnajder†,b, M. M. Sheikh-Jabbari†† and A. Tureanu† High Energy Physics Division, Department of Physics, University of Helsinki and Helsinki Institute of Physics, P.O. Box 64, FIN-00014 Helsinki, Finland Nuclear Physics Institute, Moscow State University, 119899 Moscow, Russia Department of Theoretical Physics, Comenius University, Mlynská dolina, SK-84248 Bra...
The incidence of pre-lingual hearing loss (HL) is about 1 in 1000 neonates. More than 60% of cases are inherited. Non-syndromic HL (NSHL) is extremely heterogeneous: more than 130 loci have been identified so far. The most common form of NSHL is the autosomal recessive form (ARNSHL). In this study, a cohort of 36 big ARNSHL pedigrees with 4 or more patients from 7 provinces of Iran was investig...
the myelodysplastic syndrome (mds) is a highly heterogenous disorder and karyotype analysis is helpful for diagnostic and prognostic estimation. deletion in long arm chromosome 6 (6q del) as a sole abnormality is a rare event in mds. this is the first case report of del (6q) as the only observed diagnostic change in iran. we also reviewed the literature of this cytogenetic lesion.
BackgroundAttention deficit hyperactivity disorder (ADHD), is a multifactorial disorder and converging evidence has implicated abnormalities of dopamine neurotransmission. The aim of this study was to examine the association of -141 polymorphisms in DRD2 gene with ADHA among Iranian-Azeri population.Materials and Methods A case–control association study included 153 patients with attention defi...
SUMAN DUDEJA 1, ARANYA B. BHATTACHERJEE 2, JULIAN CHELA-FLORES 3, 4 Department of Chemistry, ARSD College, University of Delhi, New Delhi110021, India. Department of Physics, ARSD College, University of Delhi, New Delhi110021, India. The Abdus Salam International Centre for Theoretical Physics, Strada Costieria 11, 34014 Trieste, Italy. Instituto de Estudios Avanzados, Caracas 1015A, Republica ...
Background and Objective: Profound hearing loss is one of the most prevalent congenital disorders affecting about 1 in 1000 newborns. Autosomal recessive non-syndromic hearing loss (ARNSHL) is the predominant form of the severe inherited childhood deafness. This type of hearing loss in one-half of the cases is caused by mutations in GJB2 (connexin 26) and GJB6 (connexin 30) genes located at DFN...
the incidence of pre-lingual hearing loss (hl) is about 1 in 1000 neonates. more than 60% of cases are inherited. non-syndromic hl (nshl) is extremely heterogeneous: more than 130 loci have been identified so far. the most common form of nshl is the autosomal recessive form (arnshl). in this study, a cohort of 36 big arnshl pedigrees with 4 or more patients from 7 provinces of iran was investig...
مقدمه: ناباروری یکی از مشکلات سلامت تولید مثل است که بسیاری از زوجین را در جهان تحت تاثیر قرار داده است و منجر به آسیب های روانی و عاطفـــی در زوجین می گردد. اعتقاد بر این هست که پروتئین های میتوکندریایی نقش مهمی در فرآیندهای ناباروری مردان دارند. یکی از مهم ترین این پروتئین ها UCP-2 می باشد که بیشتر از ده درصد پروتئین های غشای داخلی میتوکندری را تشکیل می دهد. هدف از این مطالعه بررسی ارتباط بین...
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