نتائج البحث - "Filatova, Alexandra"

1

دورية أكاديمية

Annotation of uORFs in the OMIM genes allows to reveal pathogenic variants in 5′UTRs

المؤلفون: Filatova, Alexandra, Reveguk, Ivan, Piatkova, Maria, Bessonova, Daria, Kuziakova, Olga, Demakova, Victoria, Romanishin, Alexander, Fishman, Veniamin, Imanmalik, Yerzhan, Chekanov, Nikolay, Skitchenko, Rostislav, Barbitoff, Yury, Kardymon, Olga, Skoblov, Mikhail

المساهمون: Artificial Intelligence Research Institute, Ministry of Science and Higher Education of the Russian Federation

المصدر: Nucleic Acids Research ; volume 51, issue 3, page 1229-1244 ; ISSN 0305-1048 1362-4962

مصطلحات موضوعية: Genetics

الإتاحة: https://doi.org/10.1093/nar/gkac1247Test
https://academic.oup.com/nar/article-pdf/51/3/1229/49193376/gkac1247.pdfTest

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2

دورية أكاديمية

Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report

المؤلفون: Levchenko, Olga, Filatova, Alexandra, Mishina, Irina, Antonenko, Aleksey, Skoblov, Mikhail

المصدر: Frontiers in Genetics ; volume 14 ; ISSN 1664-8021

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Medicine

الإتاحة: https://doi.org/10.3389/fgene.2023.1197681Test

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3

دورية أكاديمية

Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing.

المؤلفون: Sparber, Peter, Sharova, Margarita, Davydenko, Ksenia, Pyankov, Denis, Filatova, Alexandra, Skoblov, Mikhail

المصدر: Brain: A Journal of Neurology; Apr2024, Vol. 147 Issue 4, p1278-1293, 16p

مصطلحات موضوعية: GENETIC variation, RNA splicing, CIS-regulatory elements (Genetics), GENE expression, FUNCTIONAL analysis, PEOPLE with epilepsy

4

دورية أكاديمية

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.

المصدر: Human Mutation; 2/12/2024, Vol. 2024, p1-13, 13p

النص الكامل

5

دورية أكاديمية

Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape

المؤلفون: Bychkov, Igor, Kuznetsova, Antonina, Baydakova, Galina, Gorobets, Leonid, Kenis, Vladimir, Dimitrieva, Alena, Filatova, Alexandra, Tabakov, Vyacheslav, Skoblov, Mikhail, Zakharova, Ekaterina

المصدر: npj Genomic Medicine ; volume 7, issue 1 ; ISSN 2056-7944

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1038/s41525-022-00315-yTest
https://www.nature.com/articles/s41525-022-00315-y.pdfTest
https://www.nature.com/articles/s41525-022-00315-yTest

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6

دورية أكاديمية

Publisher Correction: Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape

المؤلفون: Bychkov, Igor, Kuznetsova, Antonina, Baydakova, Galina, Gorobets, Leonid, Kenis, Vladimir, Dimitrieva, Alena, Filatova, Alexandra, Tabakov, Vyacheslav, Skoblov, Mikhail, Zakharova, Ekaterina

المصدر: npj Genomic Medicine ; volume 7, issue 1 ; ISSN 2056-7944

مصطلحات موضوعية: Genetics (clinical), Genetics, Molecular Biology

الإتاحة: https://doi.org/10.1038/s41525-022-00337-6Test
https://www.nature.com/articles/s41525-022-00337-6.pdfTest
https://www.nature.com/articles/s41525-022-00337-6Test

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7

دورية أكاديمية

Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia

المؤلفون: Marakhonov, Andrey V., Přechová, Magdalena, Konovalov, Fedor A., Filatova, Alexandra Yu., Zamkova, Maria A., Kanivets, Ilya V., Solonichenko, Vladimir G., Semenova, Natalia A., Zinchenko, Rena A., Treisman, Richard, Skoblov, Mikhail Yu.

المساهمون: Ministry of Science and Higher Education of the Russian Federation, Russian Science Foundation, Cancer Research UK, Wellcome Trust

المصدر: Clinical Genetics ; volume 99, issue 5, page 673-683 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.13926Test

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8

دورية أكاديمية

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report

المؤلفون: Sparber, Peter, Sharova, Margarita, Filatova, Alexandra, Shchagina, Olga, Ivanova, Evgeniya, Dadali, Elena, Skoblov, Mikhail

المصدر: BMC Medical Genetics ; volume 21, issue S1 ; ISSN 1471-2350

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1186/s12881-020-01128-5Test

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9

دورية أكاديمية

Analysis of candidate genes expected to be essential for melanoma surviving

المؤلفون: Krivosheeva, Irina A., Filatova, Alexandra Yu., Moshkovskii, Sergei A., Baranova, Ancha V., Skoblov, Mikhail Yu.

المساهمون: Ministry of Education and Science of the Russian Federation

المصدر: Cancer Cell International ; volume 20, issue 1 ; ISSN 1475-2867

مصطلحات موضوعية: Cancer Research, Genetics, Oncology

الإتاحة: https://doi.org/10.1186/s12935-020-01584-2Test

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10

دورية أكاديمية

Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing

المؤلفون: Sparber, Peter, Sharova, Margarita, Davydenko, Ksenia, Pyankov, Denis, Filatova, Alexandra, Skoblov, Mikhail

المساهمون: Ministry of Science and Higher Education

المصدر: Brain ; volume 147, issue 4, page 1278-1293 ; ISSN 0006-8950 1460-2156

مصطلحات موضوعية: Neurology (clinical)

الإتاحة: https://doi.org/10.1093/brain/awad383Test
https://academic.oup.com/brain/article-pdf/147/4/1278/57162311/awad383.pdfTest

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