Zobrazeno 1 - 10
of 11
pro vyhledávání: '"M. R. Lalayants"'
Autor:
V.G. Pshennikova, Olga L. Posukh, Gabriel Minarik, Nikolay A. Barashkov, Elza Khusnutdinova, Ludevit Kadasi, Aisen V. Solovyev, Alexander Poliakov, Mait Metspalu, Alena Kushniarevich, M. R. Lalayants, Fedor M. Teryutin, E. A. Bliznetz, Marita S. Bady-Khoo, T. G. Markova, Ene Metspalu, Sardana A. Fedorova
Publikováno v:
Human Genetics. 141:697-707
Mutations in the GJB2 gene are known to be a major cause of autosomal recessive deafness 1A (OMIM 220290). The most common pathogenic variants of the GJB2 gene have a high ethno-geographic specificity in their distribution, being attributed to a foun
Autor:
G A Tavartkiladze, S. S. Chibisova, T. G. Markova, E. A. Bliznetz, N N Alekseeva, A. V. Polyakov, M. R. Lalayants, N.M. Galeeva, O. L. Mironovich
Publikováno v:
International journal of pediatric otorhinolaryngology. 138
Congenital sensorineural hearing loss is related to mutations in numerous genes encoding the structures of the inner ear in majority of the cases. Mutations in GJB2 gene are the most frequently identified causes of congenital nonsyndromal hearing los
Autor:
M. R. Lalayants, O. L. Mironovich, A. V. Polyakov, T. G. Markova, N N Alekseeva, G A Tavartkiladze, E A Bliznets
Publikováno v:
Vestnik otorinolaringologii. 85(2)
Objective The description of a clinical picture and audiological features at the hearing loss caused by changes of a STRC gene, coding protein stereocillin (MIM: 606440). Mutations in the numerous genes responsible for the inner ear proteins are the
Autor:
Oleg S Glotov, Elena K Kudryashova, Oleg Balanovsky, A. V. Polyakov, Natalya V Nikitina, Sergey V Voronin, M. R. Lalayants, T. G. Markova, R. A. Skhalyakho, Elvira Pocheshkhova, Elena Balanovska, E. A. Bliznetz
Publikováno v:
Journal of Human Genetics
Although mutations in the GJB2 gene sequence make up the majority of variants causing autosomal-recessive non-syndromic hearing loss, few large deletions have been shown to contribute to DFNB1 deafness. Currently, genetic testing for DFNB1 hearing lo
Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders
Autor:
G A Tavartkiladze, M. R. Lalayants, A. V. Polyakov, E. I. Zelikovich, E. N. Geptner, E. A. Bliznetz, O. L. Mironovich, T. G. Markova
Publikováno v:
Russian Journal of Genetics. 53:128-138
Pendred syndrome is an autosomal recessive inherited disorder characterized by a combination of sensorineural hearing impairment and euthyroid goiter; its clinical manifestation in children is hardly distinguishable from nonsyndromic hearing loss. Pe
Autor:
O. L. Mironovich, E A Bliznets, T. G. Markova, A. V. Polyakov, G A Tavartkiladze, M. R. Lalayants
Publikováno v:
Vestnik otorinolaringologii. 85:21
Otoferlin (OTOF) gene mutations are the most common cause of hereditary ANSD according to investigations in several countries. THE AIM Of this study was to estimate the prevalence of OTOF mutations in Russian children with ANSD and evaluate audiologi
Autor:
O L, Mironovich, E A, Bliznetz, T G, Markova, E N, Geptner, M R, Lalayants, E I, Zelikovich, G A, Tavartkiladze, A V, Polyakov
Publikováno v:
Genetika. 53(1)
Pendred syndrome is an autosomal recessive inherited disorder characterized by a combination of sensorineural hearing impairment and euthyroid goiter; its clinical manifestation in children is hardly distinguishable from nonsyndromic hearing loss. Pe
Autor:
E. N. Geptner, T. I. Chugunova, O. L. Mironovich, E. I. Zelikovich, A. V. Polyakov, T. G. Markova, G A Tavartkiladze, E. A. Bliznetz, M. R. Lalayants
Publikováno v:
Vestnik otorinolaringologii. 81(6)
The aim of this work was a clinical study of the patients with mutations in the SLC26A4 gene and clinical diagnosis of the Pendred syndrome. The Pendred syndrome is a hereditary autosomal recessive disorder characterized by combined pathology of the
Publikováno v:
Acoustical Physics. 57:216-223
The thresholds of masking of short high-frequency pulses with either different durations (1.25–25 ms) and similar central frequency or different central frequencies (3.6–4.4 kHz) but similar durations were measured to reveal manifestations of the
Publikováno v:
Acoustical Physics. 57:106-113
A psychoacoustic method for measuring masking thresholds based on the application of single-type stimuli and maskers intended for revealing compressive nonlinearity of displacements of the cochlea basila membrane and evaluation of the frequency resol