Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.
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| Title: | Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes. |
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| 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 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 38874808 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| 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 |
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