Non-Invasive Prenatal Testing by Cell-Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants-Prenatal Findings and Postnatal Outcomes.
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| Title: | Non-Invasive Prenatal Testing by Cell-Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants-Prenatal Findings and Postnatal Outcomes. |
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| Authors: | Bedei I; Department of Prenatal Diagnosis and Fetal Therapy, Justus-Liebig University, Gießen, Germany.; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark., Bruder J; Department of Prenatal Diagnosis and Fetal Therapy, Justus-Liebig University, Gießen, Germany., Lund ICB; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Department of Biomedicine, Aarhus University, Aarhus, Denmark.; Department of Clinical Medicine, Center for Fetal Diagnostics, Aarhus University, Aarhus, Denmark., Thomsen SH; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Center for Fetal Diagnostics, Aarhus University, Aarhus, Denmark., Vogel I; Department of Clinical Medicine, Center for Fetal Diagnostics, Aarhus University, Aarhus, Denmark.; Department of Obstetrics and Gynecology, Aarhus University Hospital, Aarhus, Denmark., Maciel-Guerra AT; Department of Medical Genetics and Genomic Medicine, School of Medical Science State University of Campinas, São Paulo, Brazil., Alvarez-Nava F; Facultad de Ciencias Biológicas, Universidad Central del Ecuador, Quito, Ecuador.; Instituto de Investigaciones Genéticas de la Universidad del Zulia, Maracaibo, Venezuela., Crenshaw ML; Division of Genetics, Johns Hopkins All Children's Hospital, St. Petersburg, Florida, USA., Axt-Fliedner R; Department of Prenatal Diagnosis and Fetal Therapy, Justus-Liebig University, Gießen, Germany., Gravholt CH; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark., Skakkebæk A; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark. |
| Source: | American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2025 Jun; Vol. 199 (2), pp. 124-133. Date of Electronic Publication: 2025 Mar 05. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40040490 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Non-Invasive Prenatal Testing by Cell-Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants-Prenatal Findings and Postnatal Outcomes. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Bedei+I%22">Bedei I</searchLink>; Department of Prenatal Diagnosis and Fetal Therapy, Justus-Liebig University, Gießen, Germany.; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.<br /><searchLink fieldCode="AU" term="%22Bruder+J%22">Bruder J</searchLink>; Department of Prenatal Diagnosis and Fetal Therapy, Justus-Liebig University, Gießen, Germany.<br /><searchLink fieldCode="AU" term="%22Lund+ICB%22">Lund ICB</searchLink>; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Department of Biomedicine, Aarhus University, Aarhus, Denmark.; Department of Clinical Medicine, Center for Fetal Diagnostics, Aarhus University, Aarhus, Denmark.<br /><searchLink fieldCode="AU" term="%22Thomsen+SH%22">Thomsen SH</searchLink>; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Center for Fetal Diagnostics, Aarhus University, Aarhus, Denmark.<br /><searchLink fieldCode="AU" term="%22Vogel+I%22">Vogel I</searchLink>; Department of Clinical Medicine, Center for Fetal Diagnostics, Aarhus University, Aarhus, Denmark.; Department of Obstetrics and Gynecology, Aarhus University Hospital, Aarhus, Denmark.<br /><searchLink fieldCode="AU" term="%22Maciel-Guerra+AT%22">Maciel-Guerra AT</searchLink>; Department of Medical Genetics and Genomic Medicine, School of Medical Science State University of Campinas, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Alvarez-Nava+F%22">Alvarez-Nava F</searchLink>; Facultad de Ciencias Biológicas, Universidad Central del Ecuador, Quito, Ecuador.; Instituto de Investigaciones Genéticas de la Universidad del Zulia, Maracaibo, Venezuela.<br /><searchLink fieldCode="AU" term="%22Crenshaw+ML%22">Crenshaw ML</searchLink>; Division of Genetics, Johns Hopkins All Children's Hospital, St. Petersburg, Florida, USA.<br /><searchLink fieldCode="AU" term="%22Axt-Fliedner+R%22">Axt-Fliedner R</searchLink>; Department of Prenatal Diagnosis and Fetal Therapy, Justus-Liebig University, Gießen, Germany.<br /><searchLink fieldCode="AU" term="%22Gravholt+CH%22">Gravholt CH</searchLink>; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Endocrinology, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark.<br /><searchLink fieldCode="AU" term="%22Skakkebæk+A%22">Skakkebæk A</searchLink>; Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101235745%22">American journal of medical genetics. Part C, Seminars in medical genetics</searchLink> [Am J Med Genet C Semin Med Genet] 2025 Jun; Vol. 199 (2), pp. 124-133. <i>Date of Electronic Publication: </i>2025 Mar 05. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235745 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4876 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524868%22">15524868 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet C Semin Med Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40040490 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.c.32136 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 124 Titles: – TitleFull: Non-Invasive Prenatal Testing by Cell-Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants-Prenatal Findings and Postnatal Outcomes. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Bedei I – PersonEntity: Name: NameFull: Bruder J – PersonEntity: Name: NameFull: Lund ICB – PersonEntity: Name: NameFull: Thomsen SH – PersonEntity: Name: NameFull: Vogel I – PersonEntity: Name: NameFull: Maciel-Guerra AT – PersonEntity: Name: NameFull: Alvarez-Nava F – PersonEntity: Name: NameFull: Crenshaw ML – PersonEntity: Name: NameFull: Axt-Fliedner R – PersonEntity: Name: NameFull: Gravholt CH – PersonEntity: Name: NameFull: Skakkebæk A IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 06 Text: 2025 Jun Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1552-4876 Numbering: – Type: volume Value: 199 – Type: issue Value: 2 Titles: – TitleFull: American journal of medical genetics. Part C, Seminars in medical genetics Type: main |
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