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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.
Genes (Basel). 2020 Jul 21;11(7):833. doi: 10.3390/genes11070833.
Genes (Basel). 2020.
PMID: 32708339
Free PMC article.
A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia.
Solovyev AV, Kushniarevich A, Bliznetz E, Bady-Khoo M, Lalayants MR, Markova TG, Minárik G, Kádasi L, Metspalu E, Pshennikova VG, Teryutin FM, Khusnutdinova EK, Poliakov A, Metspalu M, Posukh OL, Barashkov NA, Fedorova SA.
Solovyev AV, et al.
Hum Genet. 2022 Apr;141(3-4):697-707. doi: 10.1007/s00439-021-02405-w. Epub 2021 Nov 27.
Hum Genet. 2022.
PMID: 34839402
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Updated carrier rates for c.35delG (GJB2) associated with hearing loss in Russia and common c.35delG haplotypes in Siberia.
Zytsar MV, Barashkov NA, Bady-Khoo MS, Shubina-Olejnik OA, Danilenko NG, Bondar AA, Morozov IV, Solovyev AV, Danilchenko VY, Maximov VN, Posukh OL.
Zytsar MV, et al. Among authors: bady khoo ms.
BMC Med Genet. 2018 Aug 7;19(1):138. doi: 10.1186/s12881-018-0650-5.
BMC Med Genet. 2018.
PMID: 30086704
Free PMC article.
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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).
Posukh OL, Zytsar MV, Bady-Khoo MS, Danilchenko VY, Maslova EA, Barashkov NA, Bondar AA, Morozov IV, Maximov VN, Voevoda MI.
Posukh OL, et al. Among authors: bady khoo ms.
Genes (Basel). 2019 Jun 5;10(6):429. doi: 10.3390/genes10060429.
Genes (Basel). 2019.
PMID: 31195736
Free PMC article.
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Different Rates of the SLC26A4-Related Hearing Loss in Two Indigenous Peoples of Southern Siberia (Russia).
Danilchenko VY, Zytsar MV, Maslova EA, Bady-Khoo MS, Barashkov NA, Morozov IV, Bondar AA, Posukh OL.
Danilchenko VY, et al. Among authors: bady khoo ms.
Diagnostics (Basel). 2021 Dec 17;11(12):2378. doi: 10.3390/diagnostics11122378.
Diagnostics (Basel). 2021.
PMID: 34943614
Free PMC article.
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Opinions of hearing parents about the causes of hearing impairment of their children with biallelic GJB2 mutations.
Solovyev AV, Dzhemileva LU, Posukh OL, Barashkov NA, Bady-Khoo MS, Lobov SL, Popova NY, Romanov GP, Sazonov NN, Bondar AA, Morozov IV, Tomsky MI, Fedorova SA, Khusnutdinova EK.
Solovyev AV, et al. Among authors: bady khoo ms.
J Community Genet. 2017 Jul;8(3):167-171. doi: 10.1007/s12687-017-0299-3. Epub 2017 Mar 21.
J Community Genet. 2017.
PMID: 28324246
Free PMC article.
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