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Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.
Bliznetz EA, Lalayants MR, Markova TG, Balanovsky OP, Balanovska EV, Skhalyakho RA, Pocheshkhova EA, Nikitina NV, Voronin SV, Kudryashova EK, Glotov OS, Polyakov AV. Bliznetz EA, et al. J Hum Genet. 2017 Aug;62(8):789-795. doi: 10.1038/jhg.2017.42. Epub 2017 Apr 13. J Hum Genet. 2017. PMID: 28405014 Free PMC article.
[OTOF-related auditory neuropathy spectrum disorder].
Lalayants MR, Mironovich OL, Bliznets EA, Markova TG, Polyakov AV, Tavartkiladze GA. Lalayants MR, et al. Vestn Otorinolaringol. 2020;85(2):21-25. doi: 10.17116/otorino20208502121. Vestn Otorinolaringol. 2020. PMID: 32476384 Russian.
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. Among authors: lalayants mr. 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
Early audiological phenotype in patients with mutations in the USH2A gene.
Markova TG, Lalayants MR, Alekseeva NN, Ryzhkova OP, Shatokhina OL, Galeeva NM, Bliznetz EA, Weener ME, Belov OA, Chibisova SS, Polyakov AV, Tavartkiladze GA. Markova TG, et al. Among authors: lalayants mr. Int J Pediatr Otorhinolaryngol. 2022 Jun;157:111140. doi: 10.1016/j.ijporl.2022.111140. Epub 2022 Apr 15. Int J Pediatr Otorhinolaryngol. 2022. PMID: 35452909
26 results