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Journal Abstract Search

193 related items for PubMed ID: 36192130

  • 1. Real-world clinical and molecular management of 50 prospective patients with microphthalmia, anophthalmia and/or ocular coloboma.
    Harding P, Gore S, Malka S, Rajkumar J, Oluonye N, Moosajee M.
    Br J Ophthalmol; 2023 Nov 22; 107(12):1925-1935. PubMed ID: 36192130
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  • 3. Conserved genetic pathways associated with microphthalmia, anophthalmia, and coloboma.
    Reis LM, Semina EV.
    Birth Defects Res C Embryo Today; 2015 Jun 22; 105(2):96-113. PubMed ID: 26046913
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  • 5. Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases.
    Gonzalez-Rodriguez J, Pelcastre EL, Tovilla-Canales JL, Garcia-Ortiz JE, Amato-Almanza M, Villanueva-Mendoza C, Espinosa-Mattar Z, Zenteno JC.
    Br J Ophthalmol; 2010 Aug 22; 94(8):1100-4. PubMed ID: 20494911
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  • 6. Identification of a possible association of JAK2 in development of microphthalmia, anophthalmia, and coloboma (MAC) complex in a child with 9p deletion and duplication.
    Leung KCP, Ko TCS.
    Ophthalmic Genet; 2020 Aug 22; 41(4):373-376. PubMed ID: 32506980
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  • 8. High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.
    Kunisetty B, Martin-Giacalone BA, Zhao X, Luna PN, Brooks BP, Hufnagel RB, Shaw CA, Rosenfeld JA, Agopian AJ, Lupo PJ, Scott DA.
    Invest Ophthalmol Vis Sci; 2024 Mar 05; 65(3):25. PubMed ID: 38502138
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  • 9.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Bardakjian T, Weiss A, Schneider A.
    ; 1993 Mar 05. PubMed ID: 20301552
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  • 12. Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.
    Deml B, Reis LM, Lemyre E, Clark RD, Kariminejad A, Semina EV.
    Eur J Hum Genet; 2016 Apr 05; 24(4):535-41. PubMed ID: 26130484
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  • 13. A practical guide to the management of anophthalmia and microphthalmia.
    Ragge NK, Subak-Sharpe ID, Collin JR.
    Eye (Lond); 2007 Oct 05; 21(10):1290-300. PubMed ID: 17914432
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  • 14. Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia.
    Vidya NG, Rajkumar S, Vasavada AR.
    Ophthalmic Genet; 2018 Jun 05; 39(3):344-352. PubMed ID: 29461140
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  • 15. Exome sequencing in patients with microphthalmia, anophthalmia, and coloboma (MAC) from a consanguineous population.
    Islam F, Htun S, Lai LW, Krall M, Poranki M, Martin PM, Sobreira N, Wohler ES, Yu J, Moore AT, Slavotinek AM.
    Clin Genet; 2020 Nov 05; 98(5):499-506. PubMed ID: 32799327
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  • 16. Genome-wide screening reveals the genetic basis of mammalian embryonic eye development.
    Chee JM, Lanoue L, Clary D, Higgins K, Bower L, Flenniken A, Guo R, Adams DJ, Bosch F, Braun RE, Brown SDM, Chin HG, Dickinson ME, Hsu CW, Dobbie M, Gao X, Galande S, Grobler A, Heaney JD, Herault Y, de Angelis MH, Mammano F, Nutter LMJ, Parkinson H, Qin C, Shiroishi T, Sedlacek R, Seong JK, Xu Y, International Mouse Phenotyping Consortium, Brooks B, McKerlie C, Lloyd KCK, Westerberg H, Moshiri A.
    BMC Biol; 2023 Feb 03; 21(1):22. PubMed ID: 36737727
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  • 19. Children and young adults with anophthalmia and microphthalmia: Diagnosis and Management.
    Taha Najim R, Topa A, Jugård Y, Casslén B, Odersjö M, Andersson Grönlund M.
    Acta Ophthalmol; 2020 Dec 03; 98(8):848-858. PubMed ID: 32436650
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  • 20. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions.
    Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, Wyatt A, Fielder A, Ainsworth J, Moore A, Read S, Uddin J, Laws D, Pascuel-Salcedo D, Ayuso C, Allen L, Collin JR, Ragge NK.
    Br J Ophthalmol; 2007 Nov 03; 91(11):1471-6. PubMed ID: 17522144
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