Balanced Translocations Involving the DMD Gene as a Cause of Muscular Dystrophy in Female Children: A Description of Three Cases.
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| Title: | Balanced Translocations Involving the DMD Gene as a Cause of Muscular Dystrophy in Female Children: A Description of Three Cases. |
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| Authors: | Vorontsova EO; Research Centre for Medical Genetics, 115522 Moscow, Russia., Murtazina A; Research Centre for Medical Genetics, 115522 Moscow, Russia., Zinina E; Research Centre for Medical Genetics, 115522 Moscow, Russia., Polyakov AV; Research Centre for Medical Genetics, 115522 Moscow, Russia., Sumina M; State Healthcare Institution of Sverdlovsk Region, Clinical and Diagnostic Center «Mother's and Child Health Protection», 620067 Yekaterinburg, Russia., Rybakova OA; Research Institute of Pediatrics and Pediatric Surgery Named After Academician Yu.E. Veltishchev Federal State Autonomous Educational Institution of the Russian National Research Medical University Named After N.I. Pirogov of the Russian Ministry of Health, 125412 Moscow, Russia., Vlodavets D; Research Institute of Pediatrics and Pediatric Surgery Named After Academician Yu.E. Veltishchev Federal State Autonomous Educational Institution of the Russian National Research Medical University Named After N.I. Pirogov of the Russian Ministry of Health, 125412 Moscow, Russia., Kazakov D; Research Institute of Pediatrics and Pediatric Surgery Named After Academician Yu.E. Veltishchev Federal State Autonomous Educational Institution of the Russian National Research Medical University Named After N.I. Pirogov of the Russian Ministry of Health, 125412 Moscow, Russia., Suvorova Y; LLC 'Biotech Campus', 117437 Moscow, Russia., Sharkova IV; Research Centre for Medical Genetics, 115522 Moscow, Russia., Demina NA; Research Centre for Medical Genetics, 115522 Moscow, Russia., Repina SA; Research Centre for Medical Genetics, 115522 Moscow, Russia., Bulanova VA; The Department of Nervous Diseases with Medical Genetics and Neurosurgery, Yaroslavl State Medical University, 150010 Yaroslavl, Russia., Antonova M; Research Centre for Medical Genetics, 115522 Moscow, Russia., Dadali E; Research Centre for Medical Genetics, 115522 Moscow, Russia., Marakhonov AV; Research Centre for Medical Genetics, 115522 Moscow, Russia., Shilova NV; Research Centre for Medical Genetics, 115522 Moscow, Russia., Kutsev SI; Research Centre for Medical Genetics, 115522 Moscow, Russia., Shchagina OA; Research Centre for Medical Genetics, 115522 Moscow, Russia. |
| Source: | International journal of molecular sciences [Int J Mol Sci] 2025 Sep 25; Vol. 26 (19). Date of Electronic Publication: 2025 Sep 25. |
| Publication Type: | Case Reports; 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 |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41096657 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Balanced Translocations Involving the DMD Gene as a Cause of Muscular Dystrophy in Female Children: A Description of Three Cases. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Vorontsova+EO%22">Vorontsova EO</searchLink>; Research Centre for Medical Genetics, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Murtazina+A%22">Murtazina A</searchLink>; Research Centre for Medical Genetics, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Zinina+E%22">Zinina E</searchLink>; Research Centre for Medical Genetics, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Polyakov+AV%22">Polyakov AV</searchLink>; Research Centre for Medical Genetics, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Sumina+M%22">Sumina M</searchLink>; State Healthcare Institution of Sverdlovsk Region, Clinical and Diagnostic Center «Mother's and Child Health Protection», 620067 Yekaterinburg, Russia.<br /><searchLink fieldCode="AU" term="%22Rybakova+OA%22">Rybakova OA</searchLink>; Research Institute of Pediatrics and Pediatric Surgery Named After Academician Yu.E. Veltishchev Federal State Autonomous Educational Institution of the Russian National Research Medical University Named After N.I. Pirogov of the Russian Ministry of Health, 125412 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Vlodavets+D%22">Vlodavets D</searchLink>; Research Institute of Pediatrics and Pediatric Surgery Named After Academician Yu.E. Veltishchev Federal State Autonomous Educational Institution of the Russian National Research Medical University Named After N.I. Pirogov of the Russian Ministry of Health, 125412 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Kazakov+D%22">Kazakov D</searchLink>; Research Institute of Pediatrics and Pediatric Surgery Named After Academician Yu.E. Veltishchev Federal State Autonomous Educational Institution of the Russian National Research Medical University Named After N.I. Pirogov of the Russian Ministry of Health, 125412 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Suvorova+Y%22">Suvorova Y</searchLink>; LLC 'Biotech Campus', 117437 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Sharkova+IV%22">Sharkova IV</searchLink>; Research Centre for Medical Genetics, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Demina+NA%22">Demina NA</searchLink>; Research Centre for Medical Genetics, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Repina+SA%22">Repina SA</searchLink>; Research Centre for Medical Genetics, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Bulanova+VA%22">Bulanova VA</searchLink>; The Department of Nervous Diseases with Medical Genetics and Neurosurgery, Yaroslavl State Medical University, 150010 Yaroslavl, Russia.<br /><searchLink fieldCode="AU" term="%22Antonova+M%22">Antonova M</searchLink>; Research Centre for Medical Genetics, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Dadali+E%22">Dadali E</searchLink>; Research Centre for Medical Genetics, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Marakhonov+AV%22">Marakhonov AV</searchLink>; Research Centre for Medical Genetics, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Shilova+NV%22">Shilova NV</searchLink>; Research Centre for Medical Genetics, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Kutsev+SI%22">Kutsev SI</searchLink>; Research Centre for Medical Genetics, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Shchagina+OA%22">Shchagina OA</searchLink>; Research Centre for Medical Genetics, 115522 Moscow, Russia. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101092791%22">International journal of molecular sciences</searchLink> [Int J Mol Sci] 2025 Sep 25; Vol. 26 (19). <i>Date of Electronic Publication: </i>2025 Sep 25. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI%22">MDPI </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101092791 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1422-0067 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214220067%22">14220067 </searchLink><i>NLM ISO Abbreviation: </i>Int J Mol Sci <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41096657 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3390/ijms26199389 Languages: – Code: eng Text: English Titles: – TitleFull: Balanced Translocations Involving the DMD Gene as a Cause of Muscular Dystrophy in Female Children: A Description of Three Cases. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Vorontsova EO – PersonEntity: Name: NameFull: Murtazina A – PersonEntity: Name: NameFull: Zinina E – PersonEntity: Name: NameFull: Polyakov AV – PersonEntity: Name: NameFull: Sumina M – PersonEntity: Name: NameFull: Rybakova OA – PersonEntity: Name: NameFull: Vlodavets D – PersonEntity: Name: NameFull: Kazakov D – PersonEntity: Name: NameFull: Suvorova Y – PersonEntity: Name: NameFull: Sharkova IV – PersonEntity: Name: NameFull: Demina NA – PersonEntity: Name: NameFull: Repina SA – PersonEntity: Name: NameFull: Bulanova VA – PersonEntity: Name: NameFull: Antonova M – PersonEntity: Name: NameFull: Dadali E – PersonEntity: Name: NameFull: Marakhonov AV – PersonEntity: Name: NameFull: Shilova NV – PersonEntity: Name: NameFull: Kutsev SI – PersonEntity: Name: NameFull: Shchagina OA IsPartOfRelationships: – BibEntity: Dates: – D: 25 M: 09 Text: 2025 Sep 25 Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1422-0067 Numbering: – Type: volume Value: 26 – Type: issue Value: 19 Titles: – TitleFull: International journal of molecular sciences Type: main |
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