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Academic Journal

Prevalence and clinical associations of relative anterior microphthalmos assessed with an optical biometer.

  • Authors : Annopawong K; Department of Ophthalmology, Rajavithi Hospital and College of Medicine, Rangsit University, Bangkok, Thailand.; Sriyuttagrai W

Subjects: Microphthalmos*/Microphthalmos*/Microphthalmos*/epidemiology ; Glaucoma*/Glaucoma*/Glaucoma*/epidemiology; Humans

  • Source: Scientific reports [Sci Rep] 2024 Dec 28; Vol. 14 (1), pp. 31026. Date of Electronic Publication: 2024 Dec 28.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Phenotypic consequences of a nanophthalmos-associated TMEM98 variant in human and mouse.

  • Authors : Hassall MM; Department of Ophthalmology, Flinders University, Bedford Park, SA, Australia. .; Javadiyan S

Subjects: Glaucoma, Angle-Closure*/Glaucoma, Angle-Closure*/Glaucoma, Angle-Closure*/pathology ; Hyperopia*/Hyperopia*/Hyperopia*/genetics ; Hyperopia*/Hyperopia*/Hyperopia*/complications

  • Source: Scientific reports [Sci Rep] 2023 Jul 07; Vol. 13 (1), pp. 11017. Date of Electronic Publication: 2023 Jul 07.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Correlated color temperature is not a suitable proxy for the biological potency of light.

  • Authors : Esposito T; Lighting Research Solutions LLC, Philadelphia, PA, USA. .; Houser K

Subjects: Color Vision* ; Microphthalmos*; Genetic Diseases, X-Linked Cataract, congenital, with microcornea or slight microphthalmia

  • Source: Scientific reports [Sci Rep] 2022 Nov 23; Vol. 12 (1), pp. 20223. Date of Electronic Publication: 2022 Nov 23.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Demographics and histopathological characteristics of enucleated microphthalmic globes.

  • Authors : Alkatan HM; Ophthalmology Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia. .; King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia. .

Subjects: Coloboma* ; Eye Abnormalities*/Eye Abnormalities*/Eye Abnormalities*/complications ; Eye Abnormalities*/Eye Abnormalities*/Eye Abnormalities*/epidemiology

  • Source: Scientific reports [Sci Rep] 2022 Mar 28; Vol. 12 (1), pp. 5283. Date of Electronic Publication: 2022 Mar 28.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

The microphthalmia-associated transcription factor (Mitf) gene and its role in regulating eye function.

  • Authors : García-Llorca A; Department of Physiology, Biomedical Center, Faculty of Medicine, University of Iceland, Vatnsmyrarvegur 16, 101, Reykjavík, Iceland.; Department of Ophthalmology, Landspitali National University Hospital, Eiriksgata 37, 101, Reykjavik, Iceland.

Subjects: Microphthalmia-Associated Transcription Factor/Microphthalmia-Associated Transcription Factor/Microphthalmia-Associated Transcription Factor/*metabolism ; Microphthalmos/Microphthalmos/Microphthalmos/*genetics ; Retinal Pigment Epithelium/Retinal Pigment Epithelium/Retinal Pigment Epithelium/*metabolism

  • Source: Scientific reports [Sci Rep] 2019 Oct 28; Vol. 9 (1), pp. 15386. Date of Electronic Publication: 2019 Oct 28.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

New mutation in the β1 propeller domain of LRP4 responsible for congenital myasthenic syndrome associated with Cenani-Lenz syndrome.

  • Authors : Masingue M; INSERM, Myology Research Center-UMRS974, Hôpital Universitaire de la Pitié-Salpêtrière, Institut de Myologie, Sorbonne Université, 105 Boulevard de l'Hôpital, 75013, Paris, France.; Service de Neuromyologie, Centre de Référence Neuromusculaire, APHP, Paris, France.

Subjects: Myasthenic Syndromes, Congenital*/Myasthenic Syndromes, Congenital*/Myasthenic Syndromes, Congenital*/genetics; Microphthalmos ; Agrin/Agrin/Agrin/genetics Microphthalmia, syndromic 1

  • Source: Scientific reports [Sci Rep] 2023 Aug 28; Vol. 13 (1), pp. 14054. Date of Electronic Publication: 2023 Aug 28.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort.

  • Authors : Prasov L; Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, 48105, USA. .; Department of Human Genetics, University of Michigan, Ann Arbor, MI, 48109, USA. .

Subjects: Eye Diseases, Hereditary/Eye Diseases, Hereditary/Eye Diseases, Hereditary/*genetics ; Frameshift Mutation/Frameshift Mutation/Frameshift Mutation/*genetics ; Hyperopia/Hyperopia/Hyperopia/*genetics Hyperopia, High

  • Source: Scientific reports [Sci Rep] 2020 Nov 17; Vol. 10 (1), pp. 19986. Date of Electronic Publication: 2020 Nov 17.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

CAP2 in cardiac conduction, sudden cardiac death and eye development.

  • Authors : Field J; Department of Systems Pharmacology and Translational Therapeutics, University of Pennsylvania Perelman School of Medicine Philadelphia, Pennsylvania 19041 USA.; Ye DZ

Subjects: Carrier Proteins/Carrier Proteins/Carrier Proteins/*genetics ; Death, Sudden, Cardiac/Death, Sudden, Cardiac/Death, Sudden, Cardiac/*etiology ; Eye/Eye/Eye/*embryology

  • Source: Scientific reports [Sci Rep] 2015 Nov 30; Vol. 5, pp. 17256. Date of Electronic Publication: 2015 Nov 30.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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