Výsledky vyhledávání - "Marita S. Bady-Khoo"

Akademický článek

Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia

Autor: Marina V. Zytsar, Nikolay A. Barashkov, Marita S. Bady-Khoo, Olga A. Shubina-Olejnik, Nina G. Danilenko, Alexander A. Bondar, Igor V. Morozov, Aisen V. Solovyev, Valeriia Yu. Danilchenko, Vladimir N. Maximov, Olga L. Posukh

Publikováno v: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-9 (2018)

Abstract Background Mutations in GJB2 gene are a major causes of deafness and their spectrum and prevalence are specific for various populations. The well-known mutation c.35delG is more frequent in populations of Caucasian origin. Data on the c.35de

Externí odkaz: https://doaj.org/article/b6738adfe8d943aa907dab8a1b0ae287

Zobrazit plný text záznamu

Plný text ve formátu HTML

Akademický článek

Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia)

Autor: Valeriia Yu. Danilchenko, Marina V. Zytsar, Ekaterina A. Maslova, Marita S. Bady-Khoo, Nikolay A. Barashkov, Igor V. Morozov, Alexander A. Bondar, Olga L. Posukh

Publikováno v: Diagnostics, Vol 11, Iss 12, p 2378 (2021)

Hereditary hearing loss (HL) is known to be highly locus/allelic heterogeneous, and the prevalence of different HL forms significantly varies among populations worldwide. Investigation of region-specific landscapes of hereditary HL is important for l

Externí odkaz: https://doaj.org/article/4800eab104624524956d659e19c4d0b7

Zobrazit plný text záznamu

Plný text ve formátu HTML

A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9ea4cb3f6840f4e54226b24f20725f9a
https://doi.org/10.1007/s00439-021-02405-w

Zobrazit plný text záznamu

High Rates of Three Common GJB2 Mutations c.516G>C, c.-23+1G>A, c.235delC in Deaf Patients from Southern Siberia Are Due to the Founder Effect

Autor: Valeriia Yu. Danilchenko, Ekaterina A Maslova, Olga L. Posukh, Igor Morozov, Alexander A. Bondar, Marita S. Bady-Khoo, Marina V. Zytsar, Nikolay A. Barashkov

Publikováno v: Genes, Vol 11, Iss 833, p 833 (2020)
Genes

The mutations in the GJB2 gene (13q12.11, MIM 121011) encoding transmembrane protein connexin 26 (Cx26) account for a significant portion of hereditary hearing loss worldwide. Earlier we found a high prevalence of recessive GJB2 mutations c.516G>C, c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f08e8f38bf5e6f41732917580b970a61
https://www.mdpi.com/2073-4425/11/7/833

Zobrazit plný text záznamu

Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia

Autor: Olga L. Posukh, Nina Danilenko, Aisen V. Solovyev, Alexander A. Bondar, Marina V. Zytsar, Nikolay A. Barashkov, Valeriia Yu. Danilchenko, Marita S. Bady-Khoo, Igor Morozov, Olga A. Shubina-Olejnik, V. Maximov

Publikováno v: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-9 (2018)
BMC Medical Genetics

Background Mutations in GJB2 gene are a major causes of deafness and their spectrum and prevalence are specific for various populations. The well-known mutation c.35delG is more frequent in populations of Caucasian origin. Data on the c.35delG preval

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b6a0b0239a3aedf27c3e4348ecabbc96
http://link.springer.com/article/10.1186/s12881-018-0650-5

Zobrazit plný text záznamu

Plný text ve formátu HTML

Reconstruction of SNP haplotypes with mutation c.-23+1G>A in human gene GJB2 (Chromosome 13) in some populations of Eurasia

Autor: Elza Khusnutdinova, N. N. Sazonov, Marina V. Zytsar, Nikolay A. Barashkov, Marita S. Bady-Khoo, Aisen V. Solovyev, Anatoly N. Alexeev, Olga L. Posukh, Lilya U. Dzhemileva, Georgii P. Romanov, A.M. Rafailov, Sardana A. Fedorova

Publikováno v: Russian Journal of Genetics. 53:936-941

The c.-23+1G>A splice site mutation is one of the most frequent mutations of gene GJB2 (Cx26, 13q11-q12) associated with congenital non-syndromic autosomal recessive deafness. This mutation is characterized by a wide spread from Eastern Siberia and C

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4aa1016ca69bcefebe264651c6bd0986
https://doi.org/10.1134/s1022795417080099

Zobrazit plný text záznamu

Opinions of hearing parents about the causes of hearing impairment of their children with biallelic GJB2 mutations

Autor: Olga L. Posukh, Lilya U. Dzhemileva, Nikolay A. Barashkov, Georgii P. Romanov, Igor Morozov, Mikhail I. Tomsky, Aisen V. Solovyev, Marita S. Bady-Khoo, Elza Khusnutdinova, Natalya Yu. Popova, Sardana A. Fedorova, N. N. Sazonov, Alexander A. Bondar, Semen L. Lobov

Publikováno v: Journal of Community Genetics. 8:167-171

Hereditary hearing impairment (HI) caused by recessive GJB2 mutations is a frequent sensory disorder. The results of the molecular-based studies of HI are widely used in various genetic test systems. However, the ethical aspects are less described th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa57f6e8197e17fa43954d979b7ba24a
https://doi.org/10.1007/s12687-017-0299-3

Zobrazit plný text záznamu

The impact of the sociodemographic structure of deaf people communities on the prevalence of hereditary hearing loss

Autor: Georgii P. Romanov, Sergey A. Lashin, Olga L. Posukh, V. Yu. Mikhalskaia, Marita S. Bady-Khoo, Marina V. Zytsar, Nikolay A. Barashkov

Publikováno v: Russian Journal of Genetics: Applied Research. 6:854-863

Hearing loss caused by environmental or genetic factors concerns more than 10% of the world’s population, leading to disability and considerable deterioration of the quality of life for deaf people. On the average, one in 1000 children is born deaf

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::52fff93b142422d2f1a981e6a3a4c02c
https://doi.org/10.1134/s2079059716070108

Zobrazit plný text záznamu

Unique Mutational Spectrum of the GJB2 Gene and Its Pathogenic Contribution to Deafness in Tuvinians (Southern Siberia, Russia): A High Prevalence of Rare Variant c.516G>C (p.Trp172Cys)

Autor: Igor Morozov, Ekaterina A Maslova, Valeria Yu. Danilchenko, Marita S. Bady-Khoo, M I Voevoda, Alexander A. Bondar, V. Maximov, Marina V. Zytsar, Nikolay A. Barashkov, Olga L. Posukh

Publikováno v: Genes, Vol 10, Iss 6, p 429 (2019)

Mutations in the GJB2 gene are the main cause for nonsyndromic autosomal recessive deafness 1A (DFNB1A) in many populations. GJB2 mutational spectrum and pathogenic contribution are widely varying in different populations. Significant efforts have be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc4434622166ae3d5a9fd4a29e38f41f
https://www.mdpi.com/2073-4425/10/6/429

Zobrazit plný text záznamu

Unique Mutational Spectrum of the

Autor: Olga L, Posukh, Marina V, Zytsar, Marita S, Bady-Khoo, Valeria Yu, Danilchenko, Ekaterina A, Maslova, Nikolay A, Barashkov, Alexander A, Bondar, Igor V, Morozov, Vladimir N, Maximov, Michael I, Voevoda

Publikováno v: Genes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b4a291d6d4a73e43556ea2aa0d246c03
https://pubmed.ncbi.nlm.nih.gov/31195736

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání