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Journal Abstract Search

199 related items for PubMed ID: 32852110

  • 21. Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes.
    Haug P, Koller S, Maggi J, Lang E, Feil S, Wlodarczyk A, Bähr L, Steindl K, Rohrbach M, Gerth-Kahlert C, Berger W.
    Genes (Basel); 2021 Jan 06; 12(1):. PubMed ID: 33418956
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  • 23. BMP3 is a novel locus involved in the causality of ocular coloboma.
    Fox SC, Widen SA, Asai-Coakwell M, Havrylov S, Benson M, Prichard LB, Baddam P, Graf D, Lehmann OJ, Waskiewicz AJ.
    Hum Genet; 2022 Aug 06; 141(8):1385-1407. PubMed ID: 35089417
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  • 25. Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma.
    Aubert-Mucca M, Pernin-Grandjean J, Marchasson S, Gaston V, Habib C, Meunier I, Sigaudy S, Kaplan J, Roche O, Denis D, Bitoun P, Haye D, Verloes A, Calvas P, Chassaing N, Plaisancié J.
    Eur J Hum Genet; 2021 Jan 06; 29(1):131-140. PubMed ID: 32737437
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  • 27. Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma.
    London NJ, Kessler P, Williams B, Pauer GJ, Hagstrom SA, Traboulsi EI.
    Mol Vis; 2009 Jan 06; 15():162-7. PubMed ID: 19158959
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  • 28. Mutation of IPO13 causes recessive ocular coloboma, microphthalmia, and cataract.
    Huang XF, Xiang L, Cheng W, Cheng FF, He KW, Zhang BW, Zheng SS, Han RY, Zheng YH, Xu XT, Yu HY, Zhuang W, Leung YF, Jin ZB.
    Exp Mol Med; 2018 Apr 27; 50(4):1-11. PubMed ID: 29700284
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  • 29. Individuals with heterozygous variants in the Wnt-signalling pathway gene FZD5 delineate a phenotype characterized by isolated coloboma and variable expressivity.
    Holt R, Goudie D, Verde AD, Gardham A, Ramond F, Putoux A, Sarkar A, Clowes V, Clayton-Smith J, Banka S, Cortazar Galarza L, Thuret G, Ubeda Erviti M, Zurutuza Ibarguren A, Sáez Villaverde R, Tamayo Durán A, Ayuso C, Bax DA, Plaisancie J, Corton M, Chassaing N, Calvas P, Ragge NK.
    Ophthalmic Genet; 2022 Dec 27; 43(6):809-816. PubMed ID: 36695497
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  • 30. First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype.
    Casey J, Kawaguchi R, Morrissey M, Sun H, McGettigan P, Nielsen JE, Conroy J, Regan R, Kenny E, Cormican P, Morris DW, Tormey P, Chróinín MN, Kennedy BN, Lynch S, Green A, Ennis S.
    Hum Mutat; 2011 Dec 27; 32(12):1417-26. PubMed ID: 21901792
    [Abstract] [Full Text] [Related]

  • 31. Bilateral ocular malformations in a newborn with normal karyotype: histologic findings.
    Pecorella I, Novacco V, Dadalt S, Ciardi A, Salvati G, Santillo C.
    Ann Diagn Pathol; 2002 Oct 27; 6(5):319-25. PubMed ID: 12376926
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  • 32. A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2.
    Abouzeid H, Meire FM, Osman I, ElShakankiri N, Bolay S, Munier FL, Schorderet DF.
    Ophthalmology; 2009 Jan 27; 116(1):154-162.e1. PubMed ID: 19004499
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  • 33. New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders.
    Holt R, Ceroni F, Bax DA, Broadgate S, Diaz DG, Santos C, Gerrelli D, Ragge NK.
    Sci Rep; 2017 Aug 11; 7(1):7975. PubMed ID: 28801591
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  • 34. Genes and pathways in optic fissure closure.
    Patel A, Sowden JC.
    Semin Cell Dev Biol; 2019 Jul 11; 91():55-65. PubMed ID: 29198497
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  • 35. Clinical report of microphthalmia and optic nerve coloboma associated with a de novo microdeletion of chromosome 16p11.2.
    Bardakjian TM, Kwok S, Slavotinek AM, Schneider AS.
    Am J Med Genet A; 2010 Dec 11; 152A(12):3120-3. PubMed ID: 21082658
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  • 36. Corneal involvement in autosomal dominant coloboma/microphthalmos.
    Pearce WG.
    Can J Ophthalmol; 1986 Dec 11; 21(7):291-4. PubMed ID: 3801978
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  • 37. Nf2 fine-tunes proliferation and tissue alignment during closure of the optic fissure in the embryonic mouse eye.
    Sun WR, Ramirez S, Spiller KE, Zhao Y, Fuhrmann S.
    Hum Mol Genet; 2020 Dec 18; 29(20):3373-3387. PubMed ID: 33075808
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  • 38. Ocular coloboma: a reassessment in the age of molecular neuroscience.
    Gregory-Evans CY, Williams MJ, Halford S, Gregory-Evans K.
    J Med Genet; 2004 Dec 18; 41(12):881-91. PubMed ID: 15591273
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  • 39. Organogenesis of mild ocular coloboma in FLS mice: failure of basement membrane disintegration at optic fissure margins.
    Tsuji N, Kita K, Ozaki K, Narama I, Matsuura T.
    Exp Eye Res; 2012 Jan 18; 94(1):174-8. PubMed ID: 22182670
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  • 40. 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 18; 94(8):1100-4. PubMed ID: 20494911
    [Abstract] [Full Text] [Related]

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