Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.

Saved in:
Bibliographic Details
Title: Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.
Authors: Tritto V; Department of Medical Biotechnology and Translational Medicine (BIOMETRA), University of Milan, Segrate, Milan, Italy., Bettinaglio P; Department of Medical Biotechnology and Translational Medicine (BIOMETRA), University of Milan, Segrate, Milan, Italy., Mangano E; Institute for Biomedical Technologies (ITB), National Research Council (CNR), Segrate (Milan), Italy., Cesaretti C; Medical Genetics Unit, Woman-Child-Newborn Department, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy., Marasca F; Genome Biology Unit, Istituto Nazionale di Genetica Molecolare (INGM) 'Romeo ed Enrica Invernizzi', Milan, Italy., Castronovo C; Institute for Biomedical Technologies (ITB), National Research Council (CNR), Segrate (Milan), Italy., Bordoni R; Institute for Biomedical Technologies (ITB), National Research Council (CNR), Segrate (Milan), Italy., Battaglia C; Department of Medical Biotechnology and Translational Medicine (BIOMETRA), University of Milan, Segrate, Milan, Italy.; Institute for Biomedical Technologies (ITB), National Research Council (CNR), Segrate (Milan), Italy., Saletti V; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Ranzani V; Genome Biology Unit, Istituto Nazionale di Genetica Molecolare (INGM) 'Romeo ed Enrica Invernizzi', Milan, Italy., Bodega B; Genome Biology Unit, Istituto Nazionale di Genetica Molecolare (INGM) 'Romeo ed Enrica Invernizzi', Milan, Italy.; Department of Biosciences (DBS), University of Milan, Milan, Italy., Eoli M; Molecular Neuroncology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Natacci F; Medical Genetics Unit, Woman-Child-Newborn Department, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy. federica.natacci@policlinico.mi.it., Riva P; Department of Medical Biotechnology and Translational Medicine (BIOMETRA), University of Milan, Segrate, Milan, Italy. paola.riva@unimi.it.
Source: Human genetics [Hum Genet] 2024 Jun; Vol. 143 (6), pp. 775-795. Date of Electronic Publication: 2024 Jun 14.
Publication Type: Journal Article
Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet 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: 38874808
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Tritto+V%22">Tritto V</searchLink>; Department of Medical Biotechnology and Translational Medicine (BIOMETRA), University of Milan, Segrate, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Bettinaglio+P%22">Bettinaglio P</searchLink>; Department of Medical Biotechnology and Translational Medicine (BIOMETRA), University of Milan, Segrate, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Mangano+E%22">Mangano E</searchLink>; Institute for Biomedical Technologies (ITB), National Research Council (CNR), Segrate (Milan), Italy.<br /><searchLink fieldCode="AU" term="%22Cesaretti+C%22">Cesaretti C</searchLink>; Medical Genetics Unit, Woman-Child-Newborn Department, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Marasca+F%22">Marasca F</searchLink>; Genome Biology Unit, Istituto Nazionale di Genetica Molecolare (INGM) 'Romeo ed Enrica Invernizzi', Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Castronovo+C%22">Castronovo C</searchLink>; Institute for Biomedical Technologies (ITB), National Research Council (CNR), Segrate (Milan), Italy.<br /><searchLink fieldCode="AU" term="%22Bordoni+R%22">Bordoni R</searchLink>; Institute for Biomedical Technologies (ITB), National Research Council (CNR), Segrate (Milan), Italy.<br /><searchLink fieldCode="AU" term="%22Battaglia+C%22">Battaglia C</searchLink>; Department of Medical Biotechnology and Translational Medicine (BIOMETRA), University of Milan, Segrate, Milan, Italy.; Institute for Biomedical Technologies (ITB), National Research Council (CNR), Segrate (Milan), Italy.<br /><searchLink fieldCode="AU" term="%22Saletti+V%22">Saletti V</searchLink>; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Ranzani+V%22">Ranzani V</searchLink>; Genome Biology Unit, Istituto Nazionale di Genetica Molecolare (INGM) 'Romeo ed Enrica Invernizzi', Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Bodega+B%22">Bodega B</searchLink>; Genome Biology Unit, Istituto Nazionale di Genetica Molecolare (INGM) 'Romeo ed Enrica Invernizzi', Milan, Italy.; Department of Biosciences (DBS), University of Milan, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Eoli+M%22">Eoli M</searchLink>; Molecular Neuroncology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Natacci+F%22">Natacci F</searchLink>; Medical Genetics Unit, Woman-Child-Newborn Department, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy. federica.natacci@policlinico.mi.it.<br /><searchLink fieldCode="AU" term="%22Riva+P%22">Riva P</searchLink>; Department of Medical Biotechnology and Translational Medicine (BIOMETRA), University of Milan, Segrate, Milan, Italy. paola.riva@unimi.it.
– Name: TitleSource
  Label: Source
  Group: Src
  Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2024 Jun; Vol. 143 (6), pp. 775-795. <i>Date of Electronic Publication: </i>2024 Jun 14.
– 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="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>7613873 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406717%22">03406717 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genet <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=38874808
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1007/s00439-024-02683-0
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: 775
    Titles:
      – TitleFull: Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Tritto V
      – PersonEntity:
          Name:
            NameFull: Bettinaglio P
      – PersonEntity:
          Name:
            NameFull: Mangano E
      – PersonEntity:
          Name:
            NameFull: Cesaretti C
      – PersonEntity:
          Name:
            NameFull: Marasca F
      – PersonEntity:
          Name:
            NameFull: Castronovo C
      – PersonEntity:
          Name:
            NameFull: Bordoni R
      – PersonEntity:
          Name:
            NameFull: Battaglia C
      – PersonEntity:
          Name:
            NameFull: Saletti V
      – PersonEntity:
          Name:
            NameFull: Ranzani V
      – PersonEntity:
          Name:
            NameFull: Bodega B
      – PersonEntity:
          Name:
            NameFull: Eoli M
      – PersonEntity:
          Name:
            NameFull: Natacci F
      – PersonEntity:
          Name:
            NameFull: Riva P
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 06
              Text: 2024 Jun
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 1432-1203
          Numbering:
            – Type: volume
              Value: 143
            – Type: issue
              Value: 6
          Titles:
            – TitleFull: Human genetics
              Type: main
ResultId 1