View in EDS HTML Full Text PDF Full Text

Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome.

Saved in:
Bibliographic Details
Title: Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome.
Authors: Farris J; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA., Khanna C; Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA., Smadbeck JB; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA., Johnson SH; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA., Bothun E; Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA., Kaplan T; Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA., Hoffman F; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Polonis K; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, USA., Oliver G; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA., Reis LM; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, Wisconsin, USA., Semina EV; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, Wisconsin, USA.; Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA., Rust L; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Hoppman NL; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Vasmatzis G; Department of Molecular Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA., Marcou CA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA., Schimmenti LA; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 May; Vol. 194 (5), pp. e63542. Date of Electronic Publication: 2024 Jan 17.
Publication Type: Case Reports; Journal Article
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
Full text is not displayed to guests.
FullText Links:
  – Type: pdflink
Text:
  Availability: 1
Header DbId: mdl
DbLabel: MEDLINE Ultimate
An: 38234180
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
IllustrationInfo
Items – Name: Title
  Label: Title
  Group: Ti
  Data: Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Farris+J%22">Farris J</searchLink>; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Khanna+C%22">Khanna C</searchLink>; Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Smadbeck+JB%22">Smadbeck JB</searchLink>; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Johnson+SH%22">Johnson SH</searchLink>; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Bothun+E%22">Bothun E</searchLink>; Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Kaplan+T%22">Kaplan T</searchLink>; Department of Ophthalmology, Mayo Clinic, Rochester, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Hoffman+F%22">Hoffman F</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Polonis+K%22">Polonis K</searchLink>; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri, USA.<br /><searchLink fieldCode="AU" term="%22Oliver+G%22">Oliver G</searchLink>; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Reis+LM%22">Reis LM</searchLink>; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, Wisconsin, USA.<br /><searchLink fieldCode="AU" term="%22Semina+EV%22">Semina EV</searchLink>; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, Wisconsin, USA.; Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.<br /><searchLink fieldCode="AU" term="%22Rust+L%22">Rust L</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Hoppman+NL%22">Hoppman NL</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Vasmatzis+G%22">Vasmatzis G</searchLink>; Department of Molecular Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Marcou+CA%22">Marcou CA</searchLink>; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Schimmenti+LA%22">Schimmenti LA</searchLink>; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA.<br /><searchLink fieldCode="AU" term="%22Klee+EW%22">Klee EW</searchLink>; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA.
– 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] 2024 May; Vol. 194 (5), pp. e63542. <i>Date of Electronic Publication: </i>2024 Jan 17.
– 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="%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=38234180
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1002/ajmg.a.63542
    Languages:
      – Code: eng
        Text: English
    PhysicalDescription:
      Pagination:
        StartPage: e63542
    Titles:
      – TitleFull: Complex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome.
        Type: main
  BibRelationships:
    HasContributorRelationships:
      – PersonEntity:
          Name:
            NameFull: Farris J
      – PersonEntity:
          Name:
            NameFull: Khanna C
      – PersonEntity:
          Name:
            NameFull: Smadbeck JB
      – PersonEntity:
          Name:
            NameFull: Johnson SH
      – PersonEntity:
          Name:
            NameFull: Bothun E
      – PersonEntity:
          Name:
            NameFull: Kaplan T
      – PersonEntity:
          Name:
            NameFull: Hoffman F
      – PersonEntity:
          Name:
            NameFull: Polonis K
      – PersonEntity:
          Name:
            NameFull: Oliver G
      – PersonEntity:
          Name:
            NameFull: Reis LM
      – PersonEntity:
          Name:
            NameFull: Semina EV
      – PersonEntity:
          Name:
            NameFull: Rust L
      – PersonEntity:
          Name:
            NameFull: Hoppman NL
      – PersonEntity:
          Name:
            NameFull: Vasmatzis G
      – PersonEntity:
          Name:
            NameFull: Marcou CA
      – PersonEntity:
          Name:
            NameFull: Schimmenti LA
      – PersonEntity:
          Name:
            NameFull: Klee EW
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 05
              Text: 2024 May
              Type: published
              Y: 2024
          Identifiers:
            – Type: issn-electronic
              Value: 1552-4833
          Numbering:
            – Type: volume
              Value: 194
            – Type: issue
              Value: 5
          Titles:
            – TitleFull: American journal of medical genetics. Part A
              Type: main
ResultId 1