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Molecular analysis of foveoschisis in females reveals a novel case of segmental uniparental disomy in X-linked retinoschisis.

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Title: Molecular analysis of foveoschisis in females reveals a novel case of segmental uniparental disomy in X-linked retinoschisis.
Authors: Elbagoury NM; Department of Medical Molecular Genetics, National Research Centre, Cairo, Egypt., Essawi ML; Department of Medical Molecular Genetics, National Research Centre, Cairo, Egypt., Fathy HM; Department of Medical Molecular Genetics, National Research Centre, Cairo, Egypt., Eid OM; Department of Human Cytogenetics, National Research Centre, Cairo, Egypt., Nabih M; Department of Ophthalmology, Faculty of Medicine, Cairo University, Cairo, Egypt., Mohamed AM; Department of Human Cytogenetics, National Research Centre, Cairo, Egypt., Tawfik CA; Department of Ophthalmology, Faculty of Medicine, Ain Shams University, 38 Abbasseya, Nour Mosque, El-Mohamady, Al-Waili, Cairo, 11566, Egypt. Caroline_Tawfik@med.asu.edu.eg.
Source: Documenta ophthalmologica. Advances in ophthalmology [Doc Ophthalmol] 2026 Apr; Vol. 152 (2), pp. 145-158. Date of Electronic Publication: 2025 Oct 22.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Kluwer Country of Publication: Netherlands NLM ID: 0370667 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2622 (Electronic) Linking ISSN: 00124486 NLM ISO Abbreviation: Doc Ophthalmol Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: Molecular analysis of foveoschisis in females reveals a novel case of segmental uniparental disomy in X-linked retinoschisis.
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  Data: <searchLink fieldCode="AU" term="%22Elbagoury+NM%22">Elbagoury NM</searchLink>; Department of Medical Molecular Genetics, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Essawi+ML%22">Essawi ML</searchLink>; Department of Medical Molecular Genetics, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Fathy+HM%22">Fathy HM</searchLink>; Department of Medical Molecular Genetics, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Eid+OM%22">Eid OM</searchLink>; Department of Human Cytogenetics, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Nabih+M%22">Nabih M</searchLink>; Department of Ophthalmology, Faculty of Medicine, Cairo University, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Mohamed+AM%22">Mohamed AM</searchLink>; Department of Human Cytogenetics, National Research Centre, Cairo, Egypt.<br /><searchLink fieldCode="AU" term="%22Tawfik+CA%22">Tawfik CA</searchLink>; Department of Ophthalmology, Faculty of Medicine, Ain Shams University, 38 Abbasseya, Nour Mosque, El-Mohamady, Al-Waili, Cairo, 11566, Egypt. Caroline_Tawfik@med.asu.edu.eg.
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  Data: <searchLink fieldCode="JN" term="%220370667%22">Documenta ophthalmologica. Advances in ophthalmology</searchLink> [Doc Ophthalmol] 2026 Apr; Vol. 152 (2), pp. 145-158. <i>Date of Electronic Publication: </i>2025 Oct 22.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Kluwer%22">Kluwer </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>0370667 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1573-2622 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200124486%22">00124486 </searchLink><i>NLM ISO Abbreviation: </i>Doc Ophthalmol <i>Subsets: </i>MEDLINE
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        Value: 10.1007/s10633-025-10053-y
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      – Code: eng
        Text: English
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      – TitleFull: Molecular analysis of foveoschisis in females reveals a novel case of segmental uniparental disomy in X-linked retinoschisis.
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              Text: 2026 Apr
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              Y: 2026
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              Value: 1573-2622
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