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BH4-deficient hyperphenylalaninemia in Russia.
PLoS One. 2021 Apr 6;16(4):e0249608. doi: 10.1371/journal.pone.0249608. eCollection 2021.
PLoS One. 2021.
PMID: 33822819
Free PMC article.
Next generation sequencing analysis of consecutive Russian patients with clinical suspicion of inborn errors of immunity.
Suspitsin EN, Guseva MN, Kostik MM, Sokolenko AP, Skripchenko NV, Levina AS, Goleva OV, Dubko MF, Tumakova AV, Makhova MA, Lyazina LV, Bizin IV, Sokolova NE, Gabrusskaya TV, Ditkovskaya LV, Kozlova OP, Vahliarskaya SS, Kondratenko IV, Imyanitov EN.
Suspitsin EN, et al. Among authors: lyazina lv.
Clin Genet. 2020 Sep;98(3):231-239. doi: 10.1111/cge.13789. Epub 2020 Jun 17.
Clin Genet. 2020.
PMID: 32441320
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First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a BLM c.1642C>T (p.Q548X) Homozygote as a Likely Cause of Underdiagnosis.
Suspitsin EN, Sibgatullina FI, Lyazina LV, Imyanitov EN.
Suspitsin EN, et al. Among authors: lyazina lv.
Mol Syndromol. 2017 Mar;8(2):103-106. doi: 10.1159/000454820. Epub 2017 Jan 17.
Mol Syndromol. 2017.
PMID: 28611551
Free PMC article.
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Exome Sequencing of a Family with Bardet-Biedl Syndrome Identifies the Common Russian Mutation c.1967_1968delTAinsC in BBS7.
Suspitsin EN, Sokolenko AP, Lyazina LV, Preobrazhenskaya EV, Lepenchuk AY, Imyanitov EN.
Suspitsin EN, et al. Among authors: lyazina lv.
Mol Syndromol. 2015 Jul;6(2):96-8. doi: 10.1159/000371408. Epub 2015 Jan 24.
Mol Syndromol. 2015.
PMID: 26557828
Free PMC article.
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