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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

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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

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Review

Bilateral microphthalmos and orbital cyst.

Subjects: Cysts/Cysts/Cysts/*complications ; Microphthalmos/Microphthalmos/Microphthalmos/*complications ; Orbital Diseases/Orbital Diseases/Orbital Diseases/*complications

  • Source: Eye (London, England) [Eye (Lond)] 2003 Mar; Vol. 17 (2), pp. 273-6.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8703986 Publication Model: Print Cited Medium:

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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

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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

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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

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Academic Journal

Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.

  • Authors : Brady PD; Center for Human Genetics, University Hospital Leuven, KU Leuven, Leuven, Belgium.; Van Esch H

Subjects: Genetic Variation*; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics ; Microphthalmos/Microphthalmos/Microphthalmos/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Apr; Vol. 23 (4), pp. 551-4. Date of Electronic Publication: 2014 Jul 16.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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Academic Journal

Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis.

  • Authors : Choi A; Department of Pediatrics, Division of Genetics, University of California, San Francisco, CA, USA.; Lao R

Subjects: Mutation*; Antigens, Neoplasm/Antigens, Neoplasm/Antigens, Neoplasm/*genetics ; Eye Abnormalities/Eye Abnormalities/Eye Abnormalities/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2015 Mar; Vol. 23 (3), pp. 337-41. Date of Electronic Publication: 2014 Jun 18.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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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

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Academic Journal

A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindred.

  • Authors : Mory A; 1] Institute of Human Genetics, Rambam Health Care Campus, Haifa, Israel [2] The Ruth and Bruce Rappaport Faculty of Medicine, Technion Institute of Technology, Haifa, Israel.; Ruiz FX

Subjects: Mutation, Missense*; Aldehyde Oxidoreductases/Aldehyde Oxidoreductases/Aldehyde Oxidoreductases/*genetics ; Anophthalmos/Anophthalmos/Anophthalmos/*genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2014 Mar; Vol. 22 (3), pp. 419-22. Date of Electronic Publication: 2013 Jul 24.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited

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