Clinical and Structural Characterization of a Novel TGFBI Mutation Linked to a Lattice Corneal Dystrophy Variant in a Greek Family.
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| Title: | Clinical and Structural Characterization of a Novel TGFBI Mutation Linked to a Lattice Corneal Dystrophy Variant in a Greek Family. |
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| Authors: | Zacharogianni M; From the Independent Author (M.Z.)., Papandreou NC; Department of Biology, School of Sciences (N.C.P.), Section of Cell Biology and Biophysics, National and Kapodistrian University of Athens, Athens, Greece., Marinakis NM; Laboratory of Medical Genetics (N.M.M., F.N.T., and J.T.S.), 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 (N.M.M.), St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Tilemis FN; Laboratory of Medical Genetics (N.M.M., F.N.T., and J.T.S.), St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Traeger-Synodinos J; Laboratory of Medical Genetics (N.M.M., F.N.T., and J.T.S.), St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece., Palioura S; Department of Ophthalmology (S.P.), University of Cyprus Medical School, Nicosia, Cyprus. Electronic address: sotiria.palioura@gmail.com. |
| Source: | American journal of ophthalmology [Am J Ophthalmol] 2025 Jun; Vol. 274, pp. 112-121. Date of Electronic Publication: 2025 Mar 04. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Elsevier Science Country of Publication: United States NLM ID: 0370500 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1891 (Electronic) Linking ISSN: 00029394 NLM ISO Abbreviation: Am J Ophthalmol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40049267 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Clinical and Structural Characterization of a Novel TGFBI Mutation Linked to a Lattice Corneal Dystrophy Variant in a Greek Family. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Zacharogianni+M%22">Zacharogianni M</searchLink>; From the Independent Author (M.Z.).<br /><searchLink fieldCode="AU" term="%22Papandreou+NC%22">Papandreou NC</searchLink>; Department of Biology, School of Sciences (N.C.P.), Section of Cell Biology and Biophysics, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Marinakis+NM%22">Marinakis NM</searchLink>; Laboratory of Medical Genetics (N.M.M., F.N.T., and J.T.S.), 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 (N.M.M.), St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Tilemis+FN%22">Tilemis FN</searchLink>; Laboratory of Medical Genetics (N.M.M., F.N.T., and J.T.S.), St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Traeger-Synodinos+J%22">Traeger-Synodinos J</searchLink>; Laboratory of Medical Genetics (N.M.M., F.N.T., and J.T.S.), St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, Athens, Greece.<br /><searchLink fieldCode="AU" term="%22Palioura+S%22">Palioura S</searchLink>; Department of Ophthalmology (S.P.), University of Cyprus Medical School, Nicosia, Cyprus. Electronic address: sotiria.palioura@gmail.com. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220370500%22">American journal of ophthalmology</searchLink> [Am J Ophthalmol] 2025 Jun; Vol. 274, pp. 112-121. <i>Date of Electronic Publication: </i>2025 Mar 04. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier+Science%22">Elsevier Science </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>0370500 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1879-1891 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200029394%22">00029394 </searchLink><i>NLM ISO Abbreviation: </i>Am J Ophthalmol <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40049267 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1016/j.ajo.2025.03.003 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 112 Titles: – TitleFull: Clinical and Structural Characterization of a Novel TGFBI Mutation Linked to a Lattice Corneal Dystrophy Variant in a Greek Family. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Zacharogianni M – PersonEntity: Name: NameFull: Papandreou NC – PersonEntity: Name: NameFull: Marinakis NM – PersonEntity: Name: NameFull: Tilemis FN – PersonEntity: Name: NameFull: Traeger-Synodinos J – PersonEntity: Name: NameFull: Palioura S IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 06 Text: 2025 Jun Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1879-1891 Numbering: – Type: volume Value: 274 Titles: – TitleFull: American journal of ophthalmology Type: main |
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