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Case report: a rare case of Hunter syndrome (type II mucopolysaccharidosis) in a girl.
Semyachkina AN, Voskoboeva EY, Zakharova EY, Nikolaeva EA, Kanivets IV, Kolotii AD, Baydakova GV, Kharabadze MN, Kuramagomedova RG, Melnikova NV. Semyachkina AN, et al. Among authors: kanivets iv. BMC Med Genet. 2019 May 2;20(1):66. doi: 10.1186/s12881-019-0807-x. BMC Med Genet. 2019. PMID: 31046699 Free PMC article.
A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region.
Vasilyeva TA, Marakhonov AV, Minzhenkova ME, Markova ZG, Petrova NV, Sukhanova NV, Koshkin PA, Pyankov DV, Kanivets IV, Korostelev SA, Krynskaya IA, Shilova NV, Kutsev SI, Kadyshev VV, Zinchenko RA. Vasilyeva TA, et al. Among authors: kanivets iv. BMC Med Genomics. 2020 Sep 18;13(Suppl 8):130. doi: 10.1186/s12920-020-00790-1. BMC Med Genomics. 2020. PMID: 32948199 Free PMC article.
Retrospective analysis of 17 patients with mitochondrial membrane protein-associated neurodegeneration diagnosed in Russia.
Sparber P, Krylova T, Repina S, Demina N, Rudenskaya G, Sharkova I, Sharkov A, Kadyshev V, Kanivets I, Korostelev S, Pomerantseva E, Kaimonov V, Mikhailova S, Zakharova E, Skoblov M. Sparber P, et al. Parkinsonism Relat Disord. 2021 Mar;84:98-104. doi: 10.1016/j.parkreldis.2021.02.002. Epub 2021 Feb 9. Parkinsonism Relat Disord. 2021. PMID: 33607528
BH4-deficient hyperphenylalaninemia in Russia.
Gundorova P, Kuznetcova IA, Baydakova GV, Stepanova AA, Itkis YS, Kakaulina VS, Alferova IP, Lyazina LV, Andreeva LP, Kanivets I, Zakharova EY, Kutsev SI, Polyakov AV. Gundorova P, et al. PLoS One. 2021 Apr 6;16(4):e0249608. doi: 10.1371/journal.pone.0249608. eCollection 2021. PLoS One. 2021. PMID: 33822819 Free PMC article.
25 results