Evidence map›Paper›PMID 38785520›Full record

ArticleCurrent issues in molecular biology2024

Exome Sequencing for the Diagnostics of Osteogenesis Imperfecta in Six Russian Patients.

Yulia S Koshevaya, Mariia E Turkunova, Anastasia O Vechkasova, Elena A Serebryakova, Maxim Yu Donnikov, Svyatoslav I Papanov, Alexander N Chernov, Lev N Kolbasin, Lyudmila V Kovalenko, Andrey S Glotov and 1 more

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Article in Current issues in molecular biology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Yulia S KoshevayaSaint-Petersburg State Medical Diagnostic Center (Genetic Medical Center), 194044 Saint Petersburg, Russia.
Mariia E TurkunovaSaint-Petersburg State Medical Diagnostic Center (Genetic Medical Center), 194044 Saint Petersburg, Russia.
Anastasia O VechkasovaSaint-Petersburg State Medical Diagnostic Center (Genetic Medical Center), 194044 Saint Petersburg, Russia.
Elena A SerebryakovaSaint-Petersburg State Medical Diagnostic Center (Genetic Medical Center), 194044 Saint Petersburg, Russia.
Maxim Yu DonnikovDepartment of Children's Diseases, Medical Institute of Surgut State University, 628400 Surgut, Russia.ORCID 0000-0003-0120-4163
Svyatoslav I PapanovSurgut Disctrict Clinical Center of Maternity and Childhood Health Care, 628400 Surgut, Russia.
Alexander N ChernovDepartment of General Pathology and Pathological Physiology, Institute of Experimental Medicine, 197376 Saint Petersburg, Russia.ORCID 0000-0003-2464-7370
Lev N KolbasinDepartment of Children's Diseases, Medical Institute of Surgut State University, 628400 Surgut, Russia.
Lyudmila V KovalenkoDepartment of Children's Diseases, Medical Institute of Surgut State University, 628400 Surgut, Russia.
Andrey S GlotovDepartment of Genomic Medicine, D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 Saint Petersburg, Russia.ORCID 0000-0002-7465-4504
Oleg S GlotovDepartment of Genomic Medicine, D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 Saint Petersburg, Russia.ORCID 0000-0002-0091-2224

Funding

the Ministry of Science and Higher Education of the Russian Federation № 075-15-2021-1058, 28 September 2021
6 · The paper itself

Abstract

Osteogenesis imperfecta (OI) is a group of inherited disorders of connective tissue that cause significant deformities and fragility in bones. Most cases of OI are associated with pathogenic variants in collagen type I genes and are characterized by pronounced polymorphisms in clinical manifestations and the absence of clear phenotype-genotype correlation. The objective of this study was to conduct a comprehensive molecular-genetic and clinical analysis to verify the diagnosis of OI in six Russian patients with genetic variants in the

Indexed as

COL1A1COL1A2molecular and genetic diagnosticsmultiple fracturesosteogenesis imperfecta

Identifiers

PMID38785520
PMCPMC11119099

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.