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Academic Journal

Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development.

  • Authors : Ceroni F; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK.; Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.

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

  • Source: Nature communications [Nat Commun] 2024 Oct 26; Vol. 15 (1), pp. 9245. Date of Electronic Publication: 2024 Oct 26.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Molecular investigation in individuals with orofacial clefts and microphthalmia-anophthalmia-coloboma spectrum.

  • Authors : Atique Tacla M; Department of Translational Medicine, Area of Medical Genetics and Genomic Medicine, University of Campinas (UNICAMP), Campinas, SP, Brazil.; de Mello Copelli M

Subjects: Cleft Lip*/Cleft Lip*/Cleft Lip*/genetics ; Cleft Lip*/Cleft Lip*/Cleft Lip*/pathology ; Anophthalmos*/Anophthalmos*/Anophthalmos*/genetics

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Oct; Vol. 32 (10), pp. 1257-1266. Date of Electronic Publication: 2023 Nov 06.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Couching of cataractous lens in microphthalmic eyes with irido-fundal coloboma: revisiting the historical technique.

  • Authors : Kannan NB; Retina and Vitreous Services, Aravind Eye Hospital, 1, Anna Nagar, Madurai, Tamil Nadu, 625020, India.; Goswami A

Subjects: Coloboma*/Coloboma*/Coloboma*/diagnosis ; Coloboma*/Coloboma*/Coloboma*/complications ; Coloboma*/Coloboma*/Coloboma*/surgery

  • Source: International ophthalmology [Int Ophthalmol] 2024 Apr 25; Vol. 44 (1), pp. 198. Date of Electronic Publication: 2024 Apr 25.Publisher: Kluwer Country of Publication: Netherlands NLM ID: 7904294 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-2630

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Academic Journal

Coloboma Accompanying Microphthalmos With Orbital Cyst in a Mother and Child.

Subjects: Microphthalmos*/Microphthalmos*/Microphthalmos*/complications ; Microphthalmos*/Microphthalmos*/Microphthalmos*/diagnosis ; Coloboma*/Coloboma*/Coloboma*/complications Microphthalmia and mental deficiency

  • Source: Ophthalmic plastic and reconstructive surgery [Ophthalmic Plast Reconstr Surg] 2023 Sep-Oct 01; Vol. 39 (5), pp. e136-e139. Date of Electronic Publication: 2023 Apr 03.Publisher: Lippincott Williams & Wilkins for the American Society of Ophthalmic Plastic and Reconstructive Surgery Country of Publication: United States NLM ID:

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Academic Journal

High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.

Subjects: Anophthalmos*/Anophthalmos*/Anophthalmos*/diagnosis ; Anophthalmos*/Anophthalmos*/Anophthalmos*/genetics ; Coloboma*/Coloboma*/Coloboma*/diagnosis

  • Source: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2024 Mar 05; Vol. 65 (3), pp. 25.Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Print Cited

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Editorial & Opinion

[Bilateral microphthalmos and colobomatous cyst of the orbit in a young adult].

  • Authors : Oueslati M; Service d'ophtalmologie, CHU Farhat-Hached de Sousse, rue Ibn El Jazzar, 4000 Sousse, Tunisie. Electronic address: .; Ghachem M

Subjects: Microphthalmos*/Microphthalmos*/Microphthalmos*/complications ; Microphthalmos*/Microphthalmos*/Microphthalmos*/diagnosis ; Coloboma*/Coloboma*/Coloboma*/complications

  • Source: Journal francais d'ophtalmologie [J Fr Ophtalmol] 2023 Jan; Vol. 46 (1), pp. e18-e20. Date of Electronic Publication: 2022 Dec 07.Publisher: Masson Country of Publication: France NLM ID: 7804128 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1773-0597

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Academic Journal

Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma.

  • Authors : Harding P; Institute of Ophthalmology, University College London, London, UK.; Gore S

Subjects: Anophthalmos*/Anophthalmos*/Anophthalmos*/diagnosis ; Anophthalmos*/Anophthalmos*/Anophthalmos*/genetics ; Anophthalmos*/Anophthalmos*/Anophthalmos*/therapy

  • Source: The British journal of ophthalmology [Br J Ophthalmol] 2023 Nov 22; Vol. 107 (12), pp. 1925-1935. Date of Electronic Publication: 2023 Nov 22.Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 0421041 Publication Model: Electronic Cited Medium: Internet ISSN: 1468-2079

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Academic Journal

Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?

  • Authors : Villalba MF; From the Bascom Palmer Eye Institute (M.F.V., T.C.P.C.), University of Miami Miller School of Medicine, Miami, Florida, USA; John P. Hussmann Institute for Human Genomics (M.F.V., G.B.), University of Miami Miller School of Medicine, Miami, Florida, USA

Subjects: Corneal Dystrophies, Hereditary* ; Microphthalmos* ; Coloboma* Anterior segment mesenchymal dysgenesis; Axenfeld-Rieger syndrome

  • Source: American journal of ophthalmology [Am J Ophthalmol] 2023 Jul; Vol. 251, pp. 90-103. Date of Electronic Publication: 2023 Mar 10.Publisher: Elsevier Science Country of Publication: United States NLM ID: 0370500 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Clinical spectrum of non-syndromic microphthalmos, anophthalmos and coloboma in the paediatric population: a multicentric study from North India.

Subjects: Anophthalmos/Anophthalmos/Anophthalmos/*epidemiology ; Coloboma/Coloboma/Coloboma/*epidemiology ; Cornea/Cornea/Cornea/*abnormalities

  • Source: The British journal of ophthalmology [Br J Ophthalmol] 2021 Jul; Vol. 105 (7), pp. 897-903. Date of Electronic Publication: 2020 Aug 22.Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 0421041 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes.

  • Authors : Reis LM; Department of Pediatrics and Children's Research Institute, Medical College of Wisconsin and Children's Wisconsin, Milwaukee, WI, USA.; Chassaing N

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

  • Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2023 Mar; Vol. 31 (3), pp. 363-367. Date of Electronic Publication: 2022 Dec 01.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  192 results for ""Microphthalmos""