Bessonova LA - Search Results

1

[Autosomal dominant spastic paraplegias].

Rudenskaya GE, Kadnikova VA, Bessonova LA, Sparber PA, Kurbatov SA, Mironovich OL, Konovalov FA, Ryzhkova OP. Rudenskaya GE, et al. Among authors: bessonova la. Zh Nevrol Psikhiatr Im S S Korsakova. 2021;121(5):75-87. doi: 10.17116/jnevro202112105175. Zh Nevrol Psikhiatr Im S S Korsakova. 2021. PMID: 34184482 Russian.

2

Novel KIAA1109 variants affecting splicing in a Russian family with ALKURAYA-KUČINSKAS syndrome.

Filatova A, Freire V, Lozier E, Konovalov F, Bessonova L, Iudina E, Gnetetskaya V, Kanivets I, Korostelev S, Skoblov M. Filatova A, et al. Clin Genet. 2019 Mar;95(3):440-441. doi: 10.1111/cge.13472. Epub 2018 Nov 28. Clin Genet. 2019. PMID: 30485398 Free article. No abstract available.

3

Novel intronic variant in PALB2 gene and effective prevention of Fanconi anemia in family.

Viakhireva I, Musatova E, Bessonova L, Shcherbatyuk Y, Korobkov S, Zhikriveckaya S, Sofronova Y, Mironova I, Khmelkova D, Konovalov F, Baranova A, Pomerantseva E, Skoblov M. Viakhireva I, et al. Fam Cancer. 2020 Jul;19(3):241-246. doi: 10.1007/s10689-020-00165-6. Epub 2020 Feb 12. Fam Cancer. 2020. PMID: 32052252

4

KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families.

Rudenskaya GE, Kadnikova VA, Ryzhkova OP, Bessonova LA, Dadali EL, Guseva DS, Markova TV, Khmelkova DN, Polyakov AV. Rudenskaya GE, et al. Among authors: bessonova la. BMC Neurol. 2020 Aug 3;20(1):290. doi: 10.1186/s12883-020-01872-4. BMC Neurol. 2020. PMID: 32746806 Free PMC article.

5

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.

Levchenko O, Dadali E, Bessonova L, Demina N, Rudenskaya G, Matyushchenko G, Markova T, Anisimova I, Semenova N, Shchagina O, Ryzhkova O, Zinchenko R, Galkina V, Voinova V, Nagieva S, Lavrov A. Levchenko O, et al. Int J Mol Sci. 2022 Jul 14;23(14):7764. doi: 10.3390/ijms23147764. Int J Mol Sci. 2022. PMID: 35887114 Free PMC article.

6

Rare Cause 5q SMA: Molecular Genetic and Clinical Analyses of Intragenic Subtle Variants in the SMN Locus.

Mikhalchuk K, Zabnenkova V, Braslavskaya S, Chukhrova A, Ryadninskaya N, Dadaly E, Rudenskaya G, Sharkova I, Anisimova I, Bessonova L, Mishina I, Repina S, Petukhova M, Sparber P, Kuchina A, Saushev D, Artemieva S, Kurbatov S, Kanivets I, Zarubina V, Barykova D, Lisakonova E, Polyakov A, Shchagina O. Mikhalchuk K, et al. Clin Genet. 2025 Jul;108(1):58-68. doi: 10.1111/cge.14714. Epub 2025 Feb 4. Clin Genet. 2025. PMID: 39905579

7

A Family Case of Congenital Myasthenic Syndrome-22 Induced by Different Combinations of Molecular Causes in Siblings.

Shchagina O, Bessonova L, Bychkov I, Beskorovainaya T, Poliakov A. Shchagina O, et al. Genes (Basel). 2020 Jul 19;11(7):821. doi: 10.3390/genes11070821. Genes (Basel). 2020. PMID: 32707643 Free PMC article.

8

[Population genetics of hereditary diseases in the child population of the Republic of Bashkortostan, Chuvashia, and Udmurtia].

Bessonova LA, El'chinova GI, Zinchenko RA. Bessonova LA, et al. Genetika. 2012 May;48(5):644-54. Genetika. 2012. PMID: 22830261 Russian.

9

[Genetic epidemiological study of monogenic hereditary diseases in the Republic of Tatarstan: population dynamic factors determining the differentiation of the load of hereditary diseases in five districts].

Ginter EK, El'chinova GI, Petrin AN, Bessonova LA, Kadyshev VV, Gavrilina SG, Vafina ZI, Zinchenko RA. Ginter EK, et al. Among authors: bessonova la. Genetika. 2012 Sep;48(9):1105-12. Genetika. 2012. PMID: 23113339 Russian.

10

Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients.

Shchagina O, Stepanova A, Mishakova P, Kadyshev V, Demina N, Bessonova L, Ionova S, Guseva D, Marakhonov A, Zinchenko R, Kutsev S, Polyakov A. Shchagina O, et al. Biomedicines. 2024 Oct 1;12(10):2234. doi: 10.3390/biomedicines12102234. Biomedicines. 2024. PMID: 39457547 Free PMC article.

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