Search Results - "Bessonova LA"

Experience in Molecular Genetic Diagnostics of Birt-Hogg-Dubé Syndrome: Characteristics of Identified Mutations and Evolution of the Methodological Approach.

Authors: Sermyagina IG Mikhaylenko DS Kuryakova NB et al.

Source: International journal of molecular sciences [Int J Mol Sci] 2026 May 25; Vol. 27 (11). Date of Electronic Publication: 2026 May 25.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

A rare case of uniparental disomy 9 concomitant with low-level mosaicism for trisomy 9.

Authors: Iakovleva AS Markova ZG Bessonova LA et al.

Source: Vavilovskii zhurnal genetiki i selektsii [Vavilovskii Zhurnal Genet Selektsii] 2025 Sep; Vol. 29 (5), pp. 629-635.

Publication Type: Journal Article

Journal Info: Publisher: Institut t︠s︡itologii i genetiki Sibirskogo otdelenii︠a︡ Rossiĭskoi akademii nauk Country of Publication: Russia (Federation) NLM ID: 101583566 Publication Model: Print Cited Medium: Print ISSN: 2500-0462 (Print) Linking ISSN: 25003259 NLM ISO Abbreviation: Vavilovskii Zhurnal Genet Selektsii Subsets: PubMed not MEDLINE

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

Authors: Rudenskaya GE Kadnikova VA Ryzhkova OP et al.

Source: BMC neurology [BMC Neurol] 2020 Aug 03; Vol. 20 (1), pp. 290. Date of Electronic Publication: 2020 Aug 03.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE

A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization.

Authors: Markova ZG Minzhenkova ME Bessonova LA et al.

Source: Molecular cytogenetics [Mol Cytogenet] 2021 Aug 31; Vol. 14 (1), pp. 41. Date of Electronic Publication: 2021 Aug 31.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101317942 Publication Model: Electronic Cited Medium: Print ISSN: 1755-8166 (Print) Linking ISSN: 17558166 NLM ISO Abbreviation: Mol Cytogenet Subsets: PubMed not MEDLINE

[Autosomal dominant spastic paraplegias].

Transliterated Title: Autosomno-dominantnye spasticheskie paraplegii.

Authors: Rudenskaya GE Kadnikova VA Bessonova LA et al.

Source: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova [Zh Nevrol Psikhiatr Im S S Korsakova] 2021; Vol. 121 (5), pp. 75-87.

Publication Type: Journal Article

Journal Info: Publisher: Media Sfera Country of Publication: Russia (Federation) NLM ID: 9712194 Publication Model: Print Cited Medium: Print ISSN: 1997-7298 (Print) Linking ISSN: 19977298 NLM ISO Abbreviation: Zh Nevrol Psikhiatr Im S S Korsakova Subsets: MEDLINE

[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].

Authors: Ginter EK El'chinova GI Petrin AN et al.

Source: Genetika [Genetika] 2012 Sep; Vol. 48 (9), pp. 1105-12.

Publication Type: English Abstract; Journal Article

Journal Info: Publisher: Izdatelstvo Nauka Country of Publication: Russia (Federation) NLM ID: 0047354 Publication Model: Print Cited Medium: Print ISSN: 0016-6758 (Print) Linking ISSN: 00166758 NLM ISO Abbreviation: Genetika Subsets: MEDLINE

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

Authors: Bessonova LA El'chinova GI Zinchenko RA

Source: Genetika [Genetika] 2012 May; Vol. 48 (5), pp. 644-54.

Publication Type: English Abstract; Journal Article

Journal Info: Publisher: Izdatelstvo Nauka Country of Publication: Russia (Federation) NLM ID: 0047354 Publication Model: Print Cited Medium: Print ISSN: 0016-6758 (Print) Linking ISSN: 00166758 NLM ISO Abbreviation: Genetika Subsets: MEDLINE