Irina Golovleva
Overview
Explore the profile of Irina Golovleva including associated specialties, affiliations and a list of published articles.
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68
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769
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Recent Articles
1.
Kjellgren A, Lundgren E, Golovleva I, Kristrom B, Werner M
BMC Med Genomics
. 2024 Dec;
17(1):285.
PMID: 39654071
No abstract available.
2.
Kjellgren A, Lundgren E, Golovleva I, Kristrom B, Werner M
BMC Med Genomics
. 2024 Nov;
17(1):270.
PMID: 39548529
Background: LHX3 is a gene encoding a LIM-homeodomain transcription factor important for the fetal development of several organs, such as the pituitary gland, spinal motor neurons and the inner ear....
3.
Lundberg E, Burstedt M, Golovleva I
J Clin Res Pediatr Endocrinol
. 2024 Feb;
PMID: 38344969
Sotos syndrome belongs to the group of diseases characterised by features such as facial dysmorphism, intellectual disability, hypotonia and overgrowth. Usually, Sotos syndrome is caused by heterozygous mutations in the...
4.
Westin I, Viberg A, Golovleva I, Bystrom B
Cell Tissue Bank
. 2024 Jan;
25(2):613-618.
PMID: 38206443
Fuchs endothelial corneal dystrophy (FECD) is caused by a corneal endothelial cell loss, leading to corneal edema and visual impairment. The most significant genetic risk factor for FECD is an...
5.
Westin I, Landfors M, Giannopoulos A, Viberg A, Osterman P, Bystrom B, et al.
Cell Mol Life Sci
. 2023 Feb;
80(3):62.
PMID: 36773096
Late-onset Fuchs endothelial corneal dystrophy (FECD) is a disease affecting the corneal endothelium (CE), associated with a cytosine-thymine-guanine repeat expansion at the CTG18.1 locus in the transcription factor 4 (TCF4)...
6.
Berglund E, Barbany G, Orsmark-Pietras C, Fogelstrand L, Abrahamsson J, Golovleva I, et al.
Front Med (Lausanne)
. 2022 Apr;
9:842507.
PMID: 35402448
Background: Whole-genome sequencing (WGS) and whole-transcriptome sequencing (WTS), with the ability to provide comprehensive genomic information, have become the focal point of research interest as novel techniques that can support...
7.
Solaki M, Baumann B, Reuter P, Andreasson S, Audo I, Ayuso C, et al.
Hum Mutat
. 2022 Mar;
43(7):832-858.
PMID: 35332618
Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six genes have been associated with ACHM (CNGA3, CNGB3,...
8.
Westin I, Viberg A, Bystrom B, Golovleva I
Genes (Basel)
. 2021 Dec;
12(12).
PMID: 34946954
Fuchs' endothelial corneal dystrophy (FECD) is a bilateral disease of the cornea caused by gradual loss of corneal endothelial cells. Late-onset FECD is strongly associated with the CTG18.1 trinucleotide repeat...
9.
Viberg A, Westin I, Golovleva I, Bystrom B
Acta Ophthalmol
. 2021 Oct;
100(5):541-548.
PMID: 34644448
Purpose: Fuchs' endothelial corneal dystrophy (FECD) has been considered a genetically heterogeneous disease but is increasingly associated with the transcription factor 4 (TCF4) gene. This study investigates the prevalence of...
10.
Westin I, Jonsson F, Osterman L, Holmberg M, Burstedt M, Golovleva I
Sci Rep
. 2021 Apr;
11(1):7696.
PMID: 33833316
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of inherited retinal degenerations. The ortholog of Drosophila eyes shut/spacemaker, EYS on chromosome 6q12 is a major genetic cause of...