يعرض 1 - 4 نتائج من 4 نتيجة بحث عن '"Aniridia"', وقت الاستعلام: 0.83s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Saying aye to the artificial iris.

    المصدر: Nature biotechnology [Nat Biotechnol] 2018 Jul 06; Vol. 36 (7), pp. 565.

    نوع المنشور: Journal Article

    بيانات الدورية: Publisher: Nature America Publishing Country of Publication: United States NLM ID: 9604648 Publication Model: Print Cited Medium: Internet ISSN: 1546-1696 (Electronic) Linking ISSN: 10870156 NLM ISO Abbreviation: Nat Biotechnol Subsets: MEDLINE

    مواضيع طبية MeSH: Prostheses and Implants*, Aniridia/*surgery , Iris/*surgery, Aniridia/physiopathology ; Eye/physiopathology ; Germany ; Humans ; Iris/physiopathology ; Ophthalmologic Surgical Procedures ; United States ; United States Food and Drug Administration

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  2. 2
    دورية أكاديمية
    [Indications and surgical techniques for implantation of the Artificial Iris®].

    عنوان ترانسليتريتد: Indikationen und Operationsmethoden für die Implantation der Artificial Iris®.

    المؤلفون: Riedl JC; Augenklinik und Poliklinik, Universitätsmedizin Mainz, Langenbeckstr. 1, 55131, Mainz, Deutschland. Jana.riedl@unimedizin-mainz.de., Schuster AK; Augenklinik und Poliklinik, Universitätsmedizin Mainz, Langenbeckstr. 1, 55131, Mainz, Deutschland., Vossmerbaeumer U; Augenklinik und Poliklinik, Universitätsmedizin Mainz, Langenbeckstr. 1, 55131, Mainz, Deutschland.

    المصدر: Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft [Ophthalmologe] 2020 Aug; Vol. 117 (8), pp. 786-790. Date of Electronic Publication: 2020 Feb 14.

    نوع المنشور: Journal Article

    بيانات الدورية: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 9206148 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1433-0423 (Electronic) Linking ISSN: 0941293X NLM ISO Abbreviation: Ophthalmologe Subsets: MEDLINE

    مواضيع طبية MeSH: Iris/*surgery, Adult ; Aged ; Aniridia ; Female ; Germany ; Humans ; Male ; Middle Aged ; Prosthesis Implantation ; Retrospective Studies

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  3. 3
    دورية أكاديمية
    A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia.

    المؤلفون: Weisschuh N; Centre for Ophthalmology, Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany. nicole.weisschuh@uni-tuebingen.de, Wissinger B, Gramer E

    المصدر: Molecular vision [Mol Vis] 2012; Vol. 18, pp. 751-7. Date of Electronic Publication: 2012 Mar 29.

    نوع المنشور: Journal Article

    بيانات الدورية: Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE

    مواضيع طبية MeSH: Mutation, Missense*, Aniridia/*genetics , Eye Proteins/*genetics , Homeodomain Proteins/*genetics , Leber Congenital Amaurosis/*genetics , Paired Box Transcription Factors/*genetics , RNA Splice Sites/*genetics , Repressor Proteins/*genetics , White People/*genetics, Base Sequence ; Exons ; Female ; Genes, Dominant ; Germany ; HEK293 Cells ; Heterozygote ; Humans ; Introns ; Male ; Molecular Sequence Data ; PAX6 Transcription Factor ; Pedigree ; Sequence Analysis, DNA ; Transfection

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  4. 4
    دورية أكاديمية
    First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review.

    المؤلفون: Diel H; Department of Ophthalmology, University Medical Centre of the Johannes Gutenberg University Mainz, Langenbeckstr. 1, D - 55131, Mainz, Germany., Ding C; Institute of Human Genetics, University Medical Centre of the Johannes Gutenberg University Mainz, Mainz, Germany., Grehn F; Department of Ophthalmology, University Medical Centre of the Johannes Gutenberg University Mainz, Langenbeckstr. 1, D - 55131, Mainz, Germany., Chronopoulos P; Department of Ophthalmology, University Medical Centre of the Johannes Gutenberg University Mainz, Langenbeckstr. 1, D - 55131, Mainz, Germany., Bartsch O; Institute of Human Genetics, University Medical Centre of the Johannes Gutenberg University Mainz, Mainz, Germany., Hoffmann EM; Department of Ophthalmology, University Medical Centre of the Johannes Gutenberg University Mainz, Langenbeckstr. 1, D - 55131, Mainz, Germany. ehoffman@uni-mainz.de.

    المصدر: BMC ophthalmology [BMC Ophthalmol] 2021 Jan 11; Vol. 21 (1), pp. 28. Date of Electronic Publication: 2021 Jan 11.

    نوع المنشور: Case Reports; Journal Article; Review

    بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 100967802 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2415 (Electronic) Linking ISSN: 14712415 NLM ISO Abbreviation: BMC Ophthalmol Subsets: MEDLINE

    مواضيع طبية MeSH: Abnormalities, Multiple* , Hand Deformities, Congenital* , Hydrophthalmos* , Intellectual Disability* , Micrognathism*, Face/*abnormalities , Neck/*abnormalities, Child ; Child, Preschool ; Germany ; Humans ; Infant ; Male

    SCR Disease Name: Coffin-Siris syndrome

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