Bessonova L - Search Results

1

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. Among authors: bessonova l. Genes (Basel). 2020 Jul 19;11(7):821. doi: 10.3390/genes11070821. Genes (Basel). 2020. PMID: 32707643 Free PMC article.

2

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. Among authors: bessonova l. Int J Mol Sci. 2022 Jul 14;23(14):7764. doi: 10.3390/ijms23147764. Int J Mol Sci. 2022. PMID: 35887114 Free PMC article.

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. Among authors: bessonova l. 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

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. Among authors: bessonova l. 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.

6

[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.

7

[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.

8

[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.

9

Four Novel Disease-Causing Variants in the NOTCH3 Gene in Russian Patients with CADASIL.

Bostanova F, Tsygankova P, Nagornov I, Dadali E, Bessonova L, Kulesh A, Drobakha V, Danchenko I, Kanivets I, Zakharova E. Bostanova F, et al. Among authors: bessonova l. Genes (Basel). 2023 Aug 28;14(9):1715. doi: 10.3390/genes14091715. Genes (Basel). 2023. PMID: 37761855 Free PMC article.

10

Unmet needs with antipsychotic treatment in schizophrenia and bipolar I disorder: patient perspectives from qualitative focus groups.

Doane MJ, Raymond K, Saucier C, Bessonova L, O'Sullivan AK, White MK, Foster AM, LaGasse K, Carpenter-Conlin J, Sajatovic M, Velligan DI. Doane MJ, et al. Among authors: bessonova l. BMC Psychiatry. 2023 Apr 12;23(1):245. doi: 10.1186/s12888-023-04746-4. BMC Psychiatry. 2023. PMID: 37046256 Free PMC article.

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