Terminal 4q duplication and extended 10q deletion in a preterm infant with linear growth restriction: transcriptomic evidence of disrupted developmental and metabolic pathways.
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| Title: | Terminal 4q duplication and extended 10q deletion in a preterm infant with linear growth restriction: transcriptomic evidence of disrupted developmental and metabolic pathways. |
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| Authors: | Töpfer ET; Neonatology and Pediatric Intensive Care, Faculty of Medicine, University of Augsburg, Augsburg, Germany., Zähringer M; Neonatology and Pediatric Intensive Care, Faculty of Medicine, University of Augsburg, Augsburg, Germany., Baumgartner MK; Neonatology and Pediatric Intensive Care, Faculty of Medicine, University of Augsburg, Augsburg, Germany., Garbe AC; Neonatology and Pediatric Intensive Care, Faculty of Medicine, University of Augsburg, Augsburg, Germany., Dunstheimer D; Center for Rare Diseases Augsburg (AZeSE), Faculty of Medicine, University of Augsburg, Augsburg, Germany., Shoukier M; Center for Rare Diseases Augsburg (AZeSE), Faculty of Medicine, University of Augsburg, Augsburg, Germany.; Eurofins Humangenetik und Pränatal-Medizin MVZ GmbH, München, Germany., Karachun O; Eurofins Humangenetik und Pränatal-Medizin MVZ GmbH, München, Germany., Walden U; Pediatric Nephrology, Faculty of Medicine, University of Augsburg, Augsburg, Germany., Daumer-Haas C; Eurofins Humangenetik und Pränatal-Medizin MVZ GmbH, München, Germany., Frühwald MC; Swabian Children's Cancer Center, Faculty of Medicine, University of Augsburg, Augsburg, Germany.; Comprehensive Cancer Center Augsburg (CCCA ), Faculty of Medicine, University of Augsburg, Augsburg, Germany., Conrad ML; Neonatology and Pediatric Intensive Care, Faculty of Medicine, University of Augsburg, Augsburg, Germany., Fincke VE; Swabian Children's Cancer Center, Faculty of Medicine, University of Augsburg, Augsburg, Germany.; Comprehensive Cancer Center Augsburg (CCCA ), Faculty of Medicine, University of Augsburg, Augsburg, Germany., Johann PD; Swabian Children's Cancer Center, Faculty of Medicine, University of Augsburg, Augsburg, Germany.; Comprehensive Cancer Center Augsburg (CCCA ), Faculty of Medicine, University of Augsburg, Augsburg, Germany., Fahlbusch FB; Neonatology and Pediatric Intensive Care, Faculty of Medicine, University of Augsburg, Augsburg, Germany. |
| Source: | Frontiers in pediatrics [Front Pediatr] 2026 Jun 18; Vol. 14, pp. 1850899. Date of Electronic Publication: 2026 Jun 18 (Print Publication: 2026). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Frontiers Media SA Country of Publication: Switzerland NLM ID: 101615492 Publication Model: eCollection Cited Medium: Print ISSN: 2296-2360 (Print) Linking ISSN: 22962360 NLM ISO Abbreviation: Front Pediatr Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 42395604 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Terminal 4q duplication and extended 10q deletion in a preterm infant with linear growth restriction: transcriptomic evidence of disrupted developmental and metabolic pathways. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Töpfer+ET%22">Töpfer ET</searchLink>; Neonatology and Pediatric Intensive Care, Faculty of Medicine, University of Augsburg, Augsburg, Germany.<br /><searchLink fieldCode="AU" term="%22Zähringer+M%22">Zähringer M</searchLink>; Neonatology and Pediatric Intensive Care, Faculty of Medicine, University of Augsburg, Augsburg, Germany.<br /><searchLink fieldCode="AU" term="%22Baumgartner+MK%22">Baumgartner MK</searchLink>; Neonatology and Pediatric Intensive Care, Faculty of Medicine, University of Augsburg, Augsburg, Germany.<br /><searchLink fieldCode="AU" term="%22Garbe+AC%22">Garbe AC</searchLink>; Neonatology and Pediatric Intensive Care, Faculty of Medicine, University of Augsburg, Augsburg, Germany.<br /><searchLink fieldCode="AU" term="%22Dunstheimer+D%22">Dunstheimer D</searchLink>; Center for Rare Diseases Augsburg (AZeSE), Faculty of Medicine, University of Augsburg, Augsburg, Germany.<br /><searchLink fieldCode="AU" term="%22Shoukier+M%22">Shoukier M</searchLink>; Center for Rare Diseases Augsburg (AZeSE), Faculty of Medicine, University of Augsburg, Augsburg, Germany.; Eurofins Humangenetik und Pränatal-Medizin MVZ GmbH, München, Germany.<br /><searchLink fieldCode="AU" term="%22Karachun+O%22">Karachun O</searchLink>; Eurofins Humangenetik und Pränatal-Medizin MVZ GmbH, München, Germany.<br /><searchLink fieldCode="AU" term="%22Walden+U%22">Walden U</searchLink>; Pediatric Nephrology, Faculty of Medicine, University of Augsburg, Augsburg, Germany.<br /><searchLink fieldCode="AU" term="%22Daumer-Haas+C%22">Daumer-Haas C</searchLink>; Eurofins Humangenetik und Pränatal-Medizin MVZ GmbH, München, Germany.<br /><searchLink fieldCode="AU" term="%22Frühwald+MC%22">Frühwald MC</searchLink>; Swabian Children's Cancer Center, Faculty of Medicine, University of Augsburg, Augsburg, Germany.; Comprehensive Cancer Center Augsburg (CCCA ), Faculty of Medicine, University of Augsburg, Augsburg, Germany.<br /><searchLink fieldCode="AU" term="%22Conrad+ML%22">Conrad ML</searchLink>; Neonatology and Pediatric Intensive Care, Faculty of Medicine, University of Augsburg, Augsburg, Germany.<br /><searchLink fieldCode="AU" term="%22Fincke+VE%22">Fincke VE</searchLink>; Swabian Children's Cancer Center, Faculty of Medicine, University of Augsburg, Augsburg, Germany.; Comprehensive Cancer Center Augsburg (CCCA ), Faculty of Medicine, University of Augsburg, Augsburg, Germany.<br /><searchLink fieldCode="AU" term="%22Johann+PD%22">Johann PD</searchLink>; Swabian Children's Cancer Center, Faculty of Medicine, University of Augsburg, Augsburg, Germany.; Comprehensive Cancer Center Augsburg (CCCA ), Faculty of Medicine, University of Augsburg, Augsburg, Germany.<br /><searchLink fieldCode="AU" term="%22Fahlbusch+FB%22">Fahlbusch FB</searchLink>; Neonatology and Pediatric Intensive Care, Faculty of Medicine, University of Augsburg, Augsburg, Germany. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101615492%22">Frontiers in pediatrics</searchLink> [Front Pediatr] 2026 Jun 18; Vol. 14, pp. 1850899. <i>Date of Electronic Publication: </i>2026 Jun 18 (<i>Print Publication: </i>2026). – 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="%22Frontiers+Media+SA%22">Frontiers Media SA </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101615492 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>2296-2360 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2222962360%22">22962360 </searchLink><i>NLM ISO Abbreviation: </i>Front Pediatr <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=42395604 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3389/fped.2026.1850899 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1850899 Titles: – TitleFull: Terminal 4q duplication and extended 10q deletion in a preterm infant with linear growth restriction: transcriptomic evidence of disrupted developmental and metabolic pathways. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Töpfer ET – PersonEntity: Name: NameFull: Zähringer M – PersonEntity: Name: NameFull: Baumgartner MK – PersonEntity: Name: NameFull: Garbe AC – PersonEntity: Name: NameFull: Dunstheimer D – PersonEntity: Name: NameFull: Shoukier M – PersonEntity: Name: NameFull: Karachun O – PersonEntity: Name: NameFull: Walden U – PersonEntity: Name: NameFull: Daumer-Haas C – PersonEntity: Name: NameFull: Frühwald MC – PersonEntity: Name: NameFull: Conrad ML – PersonEntity: Name: NameFull: Fincke VE – PersonEntity: Name: NameFull: Johann PD – PersonEntity: Name: NameFull: Fahlbusch FB IsPartOfRelationships: – BibEntity: Dates: – D: 18 M: 06 Text: 2026 Jun 18 Type: published Y: 2026 Identifiers: – Type: issn-print Value: 2296-2360 Numbering: – Type: volume Value: 14 Titles: – TitleFull: Frontiers in pediatrics Type: main |
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