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  • 1-10 ل  127 نتائج ل ""Microphthalmos""

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Subject : eye abnormalities
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Academic Journal

Structural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia.

  • Authors : Plaisancié J; Laboratoire de Référence des Anomalies Malformatives de l'Œil, Institut Fédératif de Biologie, Centre Hospitalier Universitaire de Toulouse, 31300 Toulouse, France.; Centre de Référence des Affections Rares en Génétique Ophtalmologique (CARGO), Centre Hospitalier Universitaire de Toulouse, 31300 Toulouse, France.

Subjects: Microphthalmos*/Microphthalmos*/Microphthalmos*/genetics ; Eye Abnormalities*/Eye Abnormalities*/Eye Abnormalities*/genetics; Humans

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Feb 25; Vol. 25 (5). Date of Electronic Publication: 2024 Feb 25.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Oculo-facio-cardio-dental (OFCD) syndrome: a case report.

  • Authors : Nguyen TT; Department of Maxillofacial Surgery and Dental, Franco-Vietnamese Hospital, Ho Chi Minh City, Vietnam. .; Truong ATH

Subjects: Eye Abnormalities* ; Microphthalmos*/Microphthalmos*/Microphthalmos*/genetics ; Heart Defects, Congenital*/Heart Defects, Congenital*/Heart Defects, Congenital*/diagnosis Microphthalmia, syndromic 2

  • Source: Journal of medical case reports [J Med Case Rep] 2024 Jan 04; Vol. 18 (1), pp. 18. Date of Electronic Publication: 2024 Jan 04.Publisher: BioMed Central Country of Publication: England NLM ID: 101293382 Publication Model: Electronic Cited Medium: Internet ISSN: 1752-1947

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Academic Journal

Prenatal and Postnatal Ocular Abnormalities Following Congenital Zika Virus Infections: A Systematic Review.

  • Authors : Mahmoud A; Department of Ophthalmology, Tahar Sfar University Hospital, Mahdia, Tunisia.; Faculty of Medicine, University of Monastir, Monastir, Tunisia.

Subjects: Zika Virus Infection*/Zika Virus Infection*/Zika Virus Infection*/congenital ; Zika Virus Infection*/Zika Virus Infection*/Zika Virus Infection*/diagnosis ; Zika Virus Infection*/Zika Virus Infection*/Zika Virus Infection*/complications

  • Source: Ocular immunology and inflammation [Ocul Immunol Inflamm] 2024 Nov; Vol. 32 (9), pp. 2217-2227. Date of Electronic Publication: 2024 Feb 13.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9312169 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genome-wide screening reveals the genetic basis of mammalian embryonic eye development.

Subjects: Eye Abnormalities*/Eye Abnormalities*/Eye Abnormalities*/genetics ; Anophthalmos*/Anophthalmos*/Anophthalmos*/genetics ; Microphthalmos*/Microphthalmos*/Microphthalmos*/genetics

  • Source: BMC biology [BMC Biol] 2023 Feb 03; Vol. 21 (1), pp. 22. Date of Electronic Publication: 2023 Feb 03.Publisher: BioMed Central Country of Publication: England NLM ID: 101190720 Publication Model: Electronic Cited Medium: Internet ISSN: 1741-7007

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Academic Journal

Relative anterior microphthalmos in oculodentodigital dysplasia.

  • Authors : Orosz O; Department of Ophthalmology, University of Debrecen, Debrecen, Hungary, The Netherlands.; Fodor M

Subjects: Abnormalities, Multiple*; Connexin 43/Connexin 43/Connexin 43/*genetics ; Craniofacial Abnormalities/Craniofacial Abnormalities/Craniofacial Abnormalities/*diagnosis Oculodentodigital Dysplasia

  • Source: Indian journal of ophthalmology [Indian J Ophthalmol] 2018 Feb; Vol. 66 (2), pp. 334-336.Publisher: Medknow Publications Country of Publication: India NLM ID: 0405376 Publication Model: Print Cited Medium: Internet ISSN: 1998-3689

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Academic Journal

Microcornea, iris and choroidal coloboma, and global developmental delay caused by TENM3 pathogenic variants in a Chinese patient.

  • Authors : Zhou Y; Department of Pediatrics, Fujian Provincial Maternity and Children's Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, China.; Xu K

Subjects: Coloboma*/Coloboma*/Coloboma*/genetics ; Eye Abnormalities* ; Microphthalmos*/Microphthalmos*/Microphthalmos*/genetics

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2022 Jun; Vol. 10 (6), pp. e1948. Date of Electronic Publication: 2022 Apr 09.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-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

Atypical presentation of Cat Eye Syndrome in an infant with Peters anomaly and microphthalmia with cyst.

  • Authors : Katz B; John F Hardesty Department of Ophthalmology and Visual Sciences, Washington University School of Medicine , St Louis, MO, USA.; Enright J

Subjects: Chromosome Disorders/Chromosome Disorders/Chromosome Disorders/*pathology ; Chromosomes, Human, Pair 22/Chromosomes, Human, Pair 22/Chromosomes, Human, Pair 22/*genetics ; Cysts/Cysts/Cysts/*pathology Schmid-Fraccaro syndrome

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2020 Dec; Vol. 41 (6), pp. 645-649. Date of Electronic Publication: 2020 Aug 31.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia.

  • Authors : Vidya NG; a Department of Molecular Genetics & Biochemistry , Iladevi Cataract & IOL Research Centre , Ahmedabad , India.; c Research scholar , Manipal University , Karnataka.

Subjects: Genes, Developmental*; Anophthalmos/Anophthalmos/Anophthalmos/*genetics ; Eye Abnormalities/Eye Abnormalities/Eye Abnormalities/*genetics

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2018 Jun; Vol. 39 (3), pp. 344-352. Date of Electronic Publication: 2018 Feb 20.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Identification of PITX3 mutations in individuals with various ocular developmental defects.

  • Authors : Zazo Seco C; a UDEAR , Université de Toulouse, UMRS 1056 INSERM-Université Paul Sabatier , Toulouse , France.; Plaisancié J

Subjects: Heterozygote* ; Mutation*; Cataract/Cataract/Cataract/*genetics

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2018 Jun; Vol. 39 (3), pp. 314-320. Date of Electronic Publication: 2018 Feb 06.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 ل  127 نتائج ل ""Microphthalmos""