View in EDS HTML Full Text PDF Full Text

Genotype Structure Alterations in 5q SMA Patients as a Result of the Newborn Screening Program Implementation in the Russian Federation.

Saved in:
Bibliographic Details
Title: Genotype Structure Alterations in 5q SMA Patients as a Result of the Newborn Screening Program Implementation in the Russian Federation.
Authors: Akhkiamova MA; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Marakhonov AV; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Zabnenkova VV; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Mikhalchuk KA; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Voronin SV; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Kutsev SI; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Musatova VV; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Kekeeva TN; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Ryadninskaya NV; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Chukhrova AL; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Braslavskaya SI; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Chausova PA; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Beskorovainaya TS; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Polyakov AV; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia., Savostyanov KV; FSAI 'National Medical Research Centre for Children's Health', Lomonosovskiy Prospekt, 2 b.1, 119991 Moscow, Russia., Zhanin IS; FSAI 'National Medical Research Centre for Children's Health', Lomonosovskiy Prospekt, 2 b.1, 119991 Moscow, Russia., Bilalov FS; SBHI Republican Medical Genetic Centre, Gafuri St., 74, 450076 Ufa, Russia., Koroteev AL; SPB SBHI 'Diagnostic Centre (Medical Genetic)', Tobolskaya St., 5A, 194044 Saint-Petersburg, Russia., Trofimov DY; FSBI 'NMRC OGP Named After Academician V.I. Kulakov', Akademika Oparina St., 4, 117997 Moscow, Russia., Bairova TA; FSPSI 'Scientific Centre for Family Health and Human Reproduction Problems', Timiryazeva St., 16, 664003 Irkutsk, Russia., Seitova GN; FSBSI «Tomsk National Research Medical Centre of the Russian Academy of Sciences», Naberezhnaya Reki Ushaiki St., 10, 634050 Tomsk, Russia., Mordanov SV; FSBEI HE Rostov State Medical University, Nakhichevanskiy per., 29, 344022 Rostov-na-Donu, Russia., Matulevich SA; SBHI 'Krai Clinical Hospital No. 1 Named After Professor S.V. Ochapovsky', May 1 St., 167, 350086 Krasnodar, Russia., Nikolaeva EB; SBHI Clinical Diagnostic Centre «Mother and Child Healthcare», Flotskaya St., 52, 620067 Ekaterinburg, Russia., Shchagina OA; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.
Source: International journal of molecular sciences [Int J Mol Sci] 2025 Aug 15; Vol. 26 (16). Date of Electronic Publication: 2025 Aug 15.
Publication Type: 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
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 40869213
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Genotype Structure Alterations in 5q SMA Patients as a Result of the Newborn Screening Program Implementation in the Russian Federation.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Akhkiamova+MA%22">Akhkiamova MA</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Marakhonov+AV%22">Marakhonov AV</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Zabnenkova+VV%22">Zabnenkova VV</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Mikhalchuk+KA%22">Mikhalchuk KA</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Voronin+SV%22">Voronin SV</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Kutsev+SI%22">Kutsev SI</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Musatova+VV%22">Musatova VV</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Kekeeva+TN%22">Kekeeva TN</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Ryadninskaya+NV%22">Ryadninskaya NV</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Chukhrova+AL%22">Chukhrova AL</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Braslavskaya+SI%22">Braslavskaya SI</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Chausova+PA%22">Chausova PA</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Beskorovainaya+TS%22">Beskorovainaya TS</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Polyakov+AV%22">Polyakov AV</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 115522 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Savostyanov+KV%22">Savostyanov KV</searchLink>; FSAI 'National Medical Research Centre for Children's Health', Lomonosovskiy Prospekt, 2 b.1, 119991 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Zhanin+IS%22">Zhanin IS</searchLink>; FSAI 'National Medical Research Centre for Children's Health', Lomonosovskiy Prospekt, 2 b.1, 119991 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Bilalov+FS%22">Bilalov FS</searchLink>; SBHI Republican Medical Genetic Centre, Gafuri St., 74, 450076 Ufa, Russia.<br /><searchLink fieldCode="AU" term="%22Koroteev+AL%22">Koroteev AL</searchLink>; SPB SBHI 'Diagnostic Centre (Medical Genetic)', Tobolskaya St., 5A, 194044 Saint-Petersburg, Russia.<br /><searchLink fieldCode="AU" term="%22Trofimov+DY%22">Trofimov DY</searchLink>; FSBI 'NMRC OGP Named After Academician V.I. Kulakov', Akademika Oparina St., 4, 117997 Moscow, Russia.<br /><searchLink fieldCode="AU" term="%22Bairova+TA%22">Bairova TA</searchLink>; FSPSI 'Scientific Centre for Family Health and Human Reproduction Problems', Timiryazeva St., 16, 664003 Irkutsk, Russia.<br /><searchLink fieldCode="AU" term="%22Seitova+GN%22">Seitova GN</searchLink>; FSBSI «Tomsk National Research Medical Centre of the Russian Academy of Sciences», Naberezhnaya Reki Ushaiki St., 10, 634050 Tomsk, Russia.<br /><searchLink fieldCode="AU" term="%22Mordanov+SV%22">Mordanov SV</searchLink>; FSBEI HE Rostov State Medical University, Nakhichevanskiy per., 29, 344022 Rostov-na-Donu, Russia.<br /><searchLink fieldCode="AU" term="%22Matulevich+SA%22">Matulevich SA</searchLink>; SBHI 'Krai Clinical Hospital No. 1 Named After Professor S.V. Ochapovsky', May 1 St., 167, 350086 Krasnodar, Russia.<br /><searchLink fieldCode="AU" term="%22Nikolaeva+EB%22">Nikolaeva EB</searchLink>; SBHI Clinical Diagnostic Centre «Mother and Child Healthcare», Flotskaya St., 52, 620067 Ekaterinburg, Russia.<br /><searchLink fieldCode="AU" term="%22Shchagina+OA%22">Shchagina OA</searchLink>; Research Centre for Medical Genetics, Moskvorechie Str., 1, 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 Aug 15; Vol. 26 (16). <i>Date of Electronic Publication: </i>2025 Aug 15.
– Name: TypePub
  Label: Publication Type
  Group: TypPub
  Data: 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=40869213
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.3390/ijms26167891
    Languages:
      – Code: eng
        Text: English
    Titles:
      – TitleFull: Genotype Structure Alterations in 5q SMA Patients as a Result of the Newborn Screening Program Implementation in the Russian Federation.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Akhkiamova MA
      – PersonEntity:
          Name:
            NameFull: Marakhonov AV
      – PersonEntity:
          Name:
            NameFull: Zabnenkova VV
      – PersonEntity:
          Name:
            NameFull: Mikhalchuk KA
      – PersonEntity:
          Name:
            NameFull: Voronin SV
      – PersonEntity:
          Name:
            NameFull: Kutsev SI
      – PersonEntity:
          Name:
            NameFull: Musatova VV
      – PersonEntity:
          Name:
            NameFull: Kekeeva TN
      – PersonEntity:
          Name:
            NameFull: Ryadninskaya NV
      – PersonEntity:
          Name:
            NameFull: Chukhrova AL
      – PersonEntity:
          Name:
            NameFull: Braslavskaya SI
      – PersonEntity:
          Name:
            NameFull: Chausova PA
      – PersonEntity:
          Name:
            NameFull: Beskorovainaya TS
      – PersonEntity:
          Name:
            NameFull: Polyakov AV
      – PersonEntity:
          Name:
            NameFull: Savostyanov KV
      – PersonEntity:
          Name:
            NameFull: Zhanin IS
      – PersonEntity:
          Name:
            NameFull: Bilalov FS
      – PersonEntity:
          Name:
            NameFull: Koroteev AL
      – PersonEntity:
          Name:
            NameFull: Trofimov DY
      – PersonEntity:
          Name:
            NameFull: Bairova TA
      – PersonEntity:
          Name:
            NameFull: Seitova GN
      – PersonEntity:
          Name:
            NameFull: Mordanov SV
      – PersonEntity:
          Name:
            NameFull: Matulevich SA
      – PersonEntity:
          Name:
            NameFull: Nikolaeva EB
      – PersonEntity:
          Name:
            NameFull: Shchagina OA
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 15
              M: 08
              Text: 2025 Aug 15
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 1422-0067
          Numbering:
            – Type: volume
              Value: 26
            – Type: issue
              Value: 16
          Titles:
            – TitleFull: International journal of molecular sciences
              Type: main
ResultId 1