Natella V Sukhanova
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Explore the profile of Natella V Sukhanova including associated specialties, affiliations and a list of published articles.
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10
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Recent Articles
1.
Bobreshova A, Ionova S, Kadyshev V, Sukhanova N, Viakhireva I, Filatova A, et al.
Int J Mol Sci
. 2024 Oct;
25(20).
PMID: 39457042
Hermansky-Pudlak syndrome (HPS) is a rare disease inherited in the autosomal recessive mode, including 11 clinical genetic subtypes. They are associated with impaired function of the BLOC protein complex (Biogenesis...
2.
Vasilyeva T, Sukhanova N, Khalanskaya O, Marakhonov A, Prokhorov N, Kadyshev V, et al.
Curr Issues Mol Biol
. 2024 Jan;
46(1):96-105.
PMID: 38248310
This study investigates a unique and complex eye phenotype characterized by minimal iris defects, foveal hypoplasia, optic nerve coloboma, and severe posterior segment damage. Through genetic analysis and bioinformatic tools,...
3.
Marakhonov A, Vasilyeva T, Minzhenkova M, Sukhanova N, Sparber P, Andreeva N, et al.
Int J Mol Sci
. 2023 Dec;
24(23).
PMID: 38069245
Three years ago, our patient, at that time a 16-month-old boy, was discovered to have bilateral kidney lesions with a giant tumor in the right kidney. Chemotherapy and bilateral nephron-sparing...
4.
Vasilyeva T, Marakhonov A, Voskresenskaya A, Kadyshev V, Sukhanova N, Minzhenkova M, et al.
Genes (Basel)
. 2023 Nov;
14(11).
PMID: 38002984
This study investigates the distribution of -associated congenital aniridia (AN) and WAGR syndrome across Russian Federation (RF) districts while characterizing gene variants. We contribute novel pathogenic variants and 11p13 chromosome...
5.
Vasilyeva T, Sukhanova N, Marakhonov A, Kuzina N, Shilova N, Kadyshev V, et al.
Int J Mol Sci
. 2023 Nov;
24(21).
PMID: 37958513
This study aims to present a clinical case involving the unique co-occurrence of congenital aniridia and Down syndrome in a young girl and to analyze the combined impact of these...
6.
Filatova A, Vasilyeva T, Marakhonov A, Sukhanova N, Voskresenskaya A, Zinchenko R, et al.
Hum Mutat
. 2021 Jun;
42(8):1053-1065.
PMID: 34174135
Congenital aniridia (AN) is a severe autosomal dominant panocular disorder associated with pathogenic variants in the PAX6 gene. Previously, we performed a molecular genetic study of a large cohort of...
7.
Vasilyeva T, Marakhonov A, Minzhenkova M, Markova Z, Petrova N, Sukhanova N, et al.
BMC Med Genomics
. 2020 Sep;
13(Suppl 8):130.
PMID: 32948199
Background: Because of the significant occurrence of "WAGR-region" deletions among de novo mutations detected in congenital aniridia, DNA diagnosis is critical for all sporadic cases of aniridia due to its...
8.
Vasilyeva T, Marakhonov A, Sukhanova N, Kutsev S, Zinchenko R
Genes (Basel)
. 2020 Jul;
11(7).
PMID: 32708836
The frequency of pathogenic large chromosome rearrangements detected in patients with different Mendelian diseases is truly diverse and can be remarkably high. Chromosome breaks could arise through different known mechanisms....
9.
Vasilyeva T, Marakhonov A, Voskresenskaya A, Kadyshev V, Kasmann-Kellner B, Sukhanova N, et al.
J Med Genet
. 2020 May;
58(4):270-274.
PMID: 32467297
BackgroundAniridia is a severe autosomal dominant panocular disorder associated with pathogenic sequence variants of the gene or 11p13 chromosomal aberrations encompassing the coding and/or regulatory regions of the gene in...
10.
Marakhonov A, Vasilyeva T, Voskresenskaya A, Sukhanova N, Kadyshev V, Kutsev S, et al.
Hum Mol Genet
. 2019 Jul;
28(19):3323-3326.
PMID: 31304537
WAGR syndrome (OMIM #194072) is a rare genetic disorder that consists of development of Wilms' tumor (nephroblastoma), aniridia, genitourinary anomalies and intellectual disability (mental retardation). It is associated with WAGR-region...