Sensitive detection of FGFR1 N546K mosaic mutation in patient with encephalocraniocutaneous lipomatosis and pilocytic astrocytoma.
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| Title: | Sensitive detection of FGFR1 N546K mosaic mutation in patient with encephalocraniocutaneous lipomatosis and pilocytic astrocytoma. |
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| Authors: | Kordacka J; Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland., Zakrzewski K; Department of Neurosurgery, Polish Mother Memorial Hospital Research Institute in Lodz, Lodz, Poland., Gruszka R; Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland., Witusik-Perkowska M; Department of Medical Biochemistry, Medical University of Lodz, Lodz, Poland., Taha J; Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland., Sikorska B; Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland., Liberski PP; Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland., Zakrzewska M; Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2019 Aug; Vol. 179 (8), pp. 1622-1627. Date of Electronic Publication: 2019 Jun 07. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 31173478 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Sensitive detection of FGFR1 N546K mosaic mutation in patient with encephalocraniocutaneous lipomatosis and pilocytic astrocytoma. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Kordacka+J%22">Kordacka J</searchLink>; Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland.<br /><searchLink fieldCode="AU" term="%22Zakrzewski+K%22">Zakrzewski K</searchLink>; Department of Neurosurgery, Polish Mother Memorial Hospital Research Institute in Lodz, Lodz, Poland.<br /><searchLink fieldCode="AU" term="%22Gruszka+R%22">Gruszka R</searchLink>; Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland.<br /><searchLink fieldCode="AU" term="%22Witusik-Perkowska+M%22">Witusik-Perkowska M</searchLink>; Department of Medical Biochemistry, Medical University of Lodz, Lodz, Poland.<br /><searchLink fieldCode="AU" term="%22Taha+J%22">Taha J</searchLink>; Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland.<br /><searchLink fieldCode="AU" term="%22Sikorska+B%22">Sikorska B</searchLink>; Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland.<br /><searchLink fieldCode="AU" term="%22Liberski+PP%22">Liberski PP</searchLink>; Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland.<br /><searchLink fieldCode="AU" term="%22Zakrzewska+M%22">Zakrzewska M</searchLink>; Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2019 Aug; Vol. 179 (8), pp. 1622-1627. <i>Date of Electronic Publication: </i>2019 Jun 07. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; 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>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=31173478 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.61256 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1622 Titles: – TitleFull: Sensitive detection of FGFR1 N546K mosaic mutation in patient with encephalocraniocutaneous lipomatosis and pilocytic astrocytoma. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Kordacka J – PersonEntity: Name: NameFull: Zakrzewski K – PersonEntity: Name: NameFull: Gruszka R – PersonEntity: Name: NameFull: Witusik-Perkowska M – PersonEntity: Name: NameFull: Taha J – PersonEntity: Name: NameFull: Sikorska B – PersonEntity: Name: NameFull: Liberski PP – PersonEntity: Name: NameFull: Zakrzewska M IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 08 Text: 2019 Aug Type: published Y: 2019 Identifiers: – Type: issn-electronic Value: 1552-4833 Numbering: – Type: volume Value: 179 – Type: issue Value: 8 Titles: – TitleFull: American journal of medical genetics. Part A Type: main |
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