Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia.
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| Title: | Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia. |
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| Authors: | Walters-Sen LC; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Thrush DL; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA., Hickey SE; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA., Hashimoto S; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Reshmi S; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA., Gastier-Foster JM; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA., Pyatt RE; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA., Astbury C; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA. Electronic address: Caroline.Astbury@nationwidechildrens.org. |
| Source: | European journal of medical genetics [Eur J Med Genet] 2014 Jul; Vol. 57 (7), pp. 315-8. Date of Electronic Publication: 2014 May 10. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 24821304 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Walters-Sen+LC%22">Walters-Sen LC</searchLink>; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Thrush+DL%22">Thrush DL</searchLink>; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Hickey+SE%22">Hickey SE</searchLink>; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA; Division of Molecular and Human Genetics, Nationwide Children's Hospital, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Hashimoto+S%22">Hashimoto S</searchLink>; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Reshmi+S%22">Reshmi S</searchLink>; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Gastier-Foster+JM%22">Gastier-Foster JM</searchLink>; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Pyatt+RE%22">Pyatt RE</searchLink>; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA.<br /><searchLink fieldCode="AU" term="%22Astbury+C%22">Astbury C</searchLink>; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA. Electronic address: Caroline.Astbury@nationwidechildrens.org. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101247089%22">European journal of medical genetics</searchLink> [Eur J Med Genet] 2014 Jul; Vol. 57 (7), pp. 315-8. <i>Date of Electronic Publication: </i>2014 May 10. – 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="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>101247089 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1878-0849 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217697212%22">17697212 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Med Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=24821304 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.ejmg.2014.04.018 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 315 Titles: – TitleFull: Atypical breakpoint in a t(6;17) translocation case of acampomelic campomelic dysplasia. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Walters-Sen LC – PersonEntity: Name: NameFull: Thrush DL – PersonEntity: Name: NameFull: Hickey SE – PersonEntity: Name: NameFull: Hashimoto S – PersonEntity: Name: NameFull: Reshmi S – PersonEntity: Name: NameFull: Gastier-Foster JM – PersonEntity: Name: NameFull: Pyatt RE – PersonEntity: Name: NameFull: Astbury C IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 07 Text: 2014 Jul Type: published Y: 2014 Identifiers: – Type: issn-electronic Value: 1878-0849 Numbering: – Type: volume Value: 57 – Type: issue Value: 7 Titles: – TitleFull: European journal of medical genetics Type: main |
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