A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case study.
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| Title: | A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case study. |
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| Authors: | D'Incal CP; Cognitive Genetics (COGNET), Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Van Dijck A; Family Medicine and Population Health (FAMPOP), Department of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium., Annear DJ; Cognitive Genetics (COGNET), Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Harutyunyan L; Family Medicine and Population Health (FAMPOP), Department of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium., Elinck E; Cognitive Genetics (COGNET), Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Artificial Intelligence, Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Mateiu L; Cognitive Genetics (COGNET), Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Meuwissen M; Cognitive Genetics (COGNET), Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium., Jansen AC; Translational Neurosciences, University of Antwerp, Antwerp, Belgium. Anna.Jansen@uza.be.; Department of Pediatric Neurology, Antwerp University Hospital, Drie Eikenstraat 655, 2650, Antwerp, Belgium. Anna.Jansen@uza.be., Kooy RF; Cognitive Genetics (COGNET), Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium. frank.kooy@uantwerpen.be.; Department of Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43/6, 2650, Edegem, Belgium. frank.kooy@uantwerpen.be. |
| Source: | Clinical epigenetics [Clin Epigenetics] 2025 Nov 10; Vol. 17 (1), pp. 185. Date of Electronic Publication: 2025 Nov 10. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Biomed Central Country of Publication: Germany NLM ID: 101516977 Publication Model: Electronic Cited Medium: Internet ISSN: 1868-7083 (Electronic) Linking ISSN: 18687075 NLM ISO Abbreviation: Clin Epigenetics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 41214838 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case study. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22D'Incal+CP%22">D'Incal CP</searchLink>; Cognitive Genetics (COGNET), Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Van+Dijck+A%22">Van Dijck A</searchLink>; Family Medicine and Population Health (FAMPOP), Department of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Annear+DJ%22">Annear DJ</searchLink>; Cognitive Genetics (COGNET), Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Harutyunyan+L%22">Harutyunyan L</searchLink>; Family Medicine and Population Health (FAMPOP), Department of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Elinck+E%22">Elinck E</searchLink>; Cognitive Genetics (COGNET), Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Dingemans+AJM%22">Dingemans AJM</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Artificial Intelligence, Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Vries+BBA%22">de Vries BBA</searchLink>; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Mateiu+L%22">Mateiu L</searchLink>; Cognitive Genetics (COGNET), Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Meuwissen+M%22">Meuwissen M</searchLink>; Cognitive Genetics (COGNET), Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.<br /><searchLink fieldCode="AU" term="%22Jansen+AC%22">Jansen AC</searchLink>; Translational Neurosciences, University of Antwerp, Antwerp, Belgium. Anna.Jansen@uza.be.; Department of Pediatric Neurology, Antwerp University Hospital, Drie Eikenstraat 655, 2650, Antwerp, Belgium. Anna.Jansen@uza.be.<br /><searchLink fieldCode="AU" term="%22Kooy+RF%22">Kooy RF</searchLink>; Cognitive Genetics (COGNET), Center of Medical Genetics, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium. frank.kooy@uantwerpen.be.; Department of Medical Genetics, University of Antwerp, Prins Boudewijnlaan 43/6, 2650, Edegem, Belgium. frank.kooy@uantwerpen.be. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101516977%22">Clinical epigenetics</searchLink> [Clin Epigenetics] 2025 Nov 10; Vol. 17 (1), pp. 185. <i>Date of Electronic Publication: </i>2025 Nov 10. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Case Reports – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Biomed+Central%22">Biomed Central </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>101516977 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1868-7083 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2218687075%22">18687075 </searchLink><i>NLM ISO Abbreviation: </i>Clin Epigenetics <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41214838 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13148-025-01998-7 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 185 Titles: – TitleFull: A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case study. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: D'Incal CP – PersonEntity: Name: NameFull: Van Dijck A – PersonEntity: Name: NameFull: Annear DJ – PersonEntity: Name: NameFull: Harutyunyan L – PersonEntity: Name: NameFull: Elinck E – PersonEntity: Name: NameFull: Dingemans AJM – PersonEntity: Name: NameFull: de Vries BBA – PersonEntity: Name: NameFull: Mateiu L – PersonEntity: Name: NameFull: Meuwissen M – PersonEntity: Name: NameFull: Jansen AC – PersonEntity: Name: NameFull: Kooy RF IsPartOfRelationships: – BibEntity: Dates: – D: 10 M: 11 Text: 2025 Nov 10 Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1868-7083 Numbering: – Type: volume Value: 17 – Type: issue Value: 1 Titles: – TitleFull: Clinical epigenetics Type: main |
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