Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7.
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| Title: | Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7. |
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| Authors: | Tilemis FN; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Marinakis NM; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Kosma K; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Fostira F; Molecular Diagnostics Laboratory, INRaSTES, National Center for Scientific Research 'Demokritos', Athens, Greece., Traeger-Synodinos J; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece. |
| Source: | Molecular syndromology [Mol Syndromol] 2023 Jun; Vol. 14 (3), pp. 225-230. Date of Electronic Publication: 2023 Jan 13. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101525192 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1661-8769 (Print) Linking ISSN: 16618769 NLM ISO Abbreviation: Mol Syndromol Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 37323200 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Tilemis+FN%22">Tilemis FN</searchLink>; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Marinakis+NM%22">Marinakis NM</searchLink>; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.; Research University Institute for the Study and Prevention of Genetic and Malignant Disease of Childhood, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Kosma+K%22">Kosma K</searchLink>; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Fostira+F%22">Fostira F</searchLink>; Molecular Diagnostics Laboratory, INRaSTES, National Center for Scientific Research 'Demokritos', Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Traeger-Synodinos+J%22">Traeger-Synodinos J</searchLink>; Laboratory of Medical Genetics, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101525192%22">Molecular syndromology</searchLink> [Mol Syndromol] 2023 Jun; Vol. 14 (3), pp. 225-230. <i>Date of Electronic Publication: </i>2023 Jan 13. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22S%2E+Karger%22">S. Karger </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101525192 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Print <i>ISSN: </i>1661-8769 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2216618769%22">16618769 </searchLink><i>NLM ISO Abbreviation: </i>Mol Syndromol <i>Subsets: </i>PubMed not MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=37323200 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1159/000527777 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 225 Titles: – TitleFull: Identification of a Novel IQCE Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Tilemis FN – PersonEntity: Name: NameFull: Marinakis NM – PersonEntity: Name: NameFull: Kosma K – PersonEntity: Name: NameFull: Fostira F – PersonEntity: Name: NameFull: Traeger-Synodinos J IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 06 Text: 2023 Jun Type: published Y: 2023 Identifiers: – Type: issn-print Value: 1661-8769 Numbering: – Type: volume Value: 14 – Type: issue Value: 3 Titles: – TitleFull: Molecular syndromology Type: main |
| ResultId | 1 |
