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  • 1-10 ل  101 نتائج ل ""Microphthalmos""

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Subject : coloboma
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Academic Journal

Management of anophthalmia, microphthalmia and coloboma in the newborn, shared care between neonatologist and ophthalmologist: a literature review.

  • Authors : Russo M; Operative Unit of Neonatology, IRCCS Ospedale Policlinico San Martino, Genoa, 16132, Italy. .; Palmeri S

Subjects: Coloboma*/Coloboma*/Coloboma*/therapy ; Coloboma*/Coloboma*/Coloboma*/diagnosis ; Coloboma*/Coloboma*/Coloboma*/epidemiology

  • Source: Italian journal of pediatrics [Ital J Pediatr] 2025 Mar 05; Vol. 51 (1), pp. 65. Date of Electronic Publication: 2025 Mar 05.Publisher: BioMed Central Country of Publication: England NLM ID: 101510759 Publication Model: Electronic Cited Medium: Internet ISSN: 1824-7288

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Academic Journal

Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 ( PQBP1 ) gene.

  • Authors : Mameesh MM; Department of Ophthalmology, Sultan Qaboos University Hospital, Muscat, Oman.; Department of Ophthalmology, Alexandria School of Medicine, Alexandria, Egypt.

Subjects: Mutation*; Anophthalmos/Anophthalmos/Anophthalmos/*pathology ; Cerebral Palsy/Cerebral Palsy/Cerebral Palsy/*complications Renpenning syndrome 1

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2019 Dec; Vol. 40 (6), pp. 534-540. Date of Electronic Publication: 2019 Nov 13.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 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

Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.

  • Authors : Holt R; Faculty of Health and Life Sciences, Oxford Brookes University, UK.; Goudie D

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

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2022 Dec; Vol. 43 (6), pp. 809-816.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print Cited Medium: Internet ISSN: 1744-5094

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Academic Journal

De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia.

  • Authors : DeYoung C; Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.; Guan B

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

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2022 Aug; Vol. 43 (4), pp. 513-517. Date of Electronic Publication: 2022 Mar 23.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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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

Orbital Cyst with Ependymal Differentiation Associated with Microphthalmia.

  • Authors : Garcia MD; Department of Ophthalmology, Mayo Clinic, Rochester, NY, USA.; Salomao DR

Subjects: Coloboma*/Coloboma*/Coloboma*/complications ; Coloboma*/Coloboma*/Coloboma*/pathology ; Cysts*/Cysts*/Cysts*/pathology

  • Source: Fetal and pediatric pathology [Fetal Pediatr Pathol] 2022 Apr; Vol. 41 (2), pp. 278-280. Date of Electronic Publication: 2020 May 25.Publisher: Informa Healthcare Country of Publication: England NLM ID: 101230972 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

Identification of a possible association of JAK2 in development of microphthalmia, anophthalmia, and coloboma (MAC) complex in a child with 9p deletion and duplication.

  • Authors : Leung KCP; Department of Ophthalmology, Tung Wah Eastern Hosptial , Causewaybay, Hong Kong.; Ko TCS

Subjects: Chromosome Deletion* ; Gene Duplication*; Anophthalmos/Anophthalmos/Anophthalmos/*pathology Chromosome 9p Deletion Syndrome

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2020 Aug; Vol. 41 (4), pp. 373-376. Date of Electronic Publication: 2020 Jun 08.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Congenital right optic nerve colobomatous cyst associated with microphthalmos

Subjects: Optical nerve; Coloboma; Orbit

  • Source: Radiology Case Reports, Vol 19, Iss 11, Pp 5346-5349 (2024)

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  • 1-10 ل  101 نتائج ل ""Microphthalmos""