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Journal Abstract Search

208 related items for PubMed ID: 37758467

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  • 3. Genetic analysis of consanguineous families presenting with congenital ocular defects.
    Ullah E, Nadeem Saqib MA, Sajid S, Shah N, Zubair M, Khan MA, Ahmed I, Ali G, Dutta AK, Danda S, Lao R, Ling-Fung Tang P, Kwok PY, Ansar M, Slavotinek A.
    Exp Eye Res; 2016 May; 146():163-171. PubMed ID: 26995144
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  • 4. Mutations in VSX2, SOX2, and FOXE3 Identified in Patients with Micro-/Anophthalmia.
    Habibi I, Youssef M, Marzouk E, El Shakankiri N, Gawdat G, El Sada M, F Schorderet D, Abou Zeid H.
    Adv Exp Med Biol; 2019 May; 1185():221-226. PubMed ID: 31884615
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  • 5. Homozygous FOXE3 mutations cause non-syndromic, bilateral, total sclerocornea, aphakia, microphthalmia and optic disc coloboma.
    Ali M, Buentello-Volante B, McKibbin M, Rocha-Medina JA, Fernandez-Fuentes N, Koga-Nakamura W, Ashiq A, Khan K, Booth AP, Williams G, Raashid Y, Jafri H, Rice A, Inglehearn CF, Zenteno JC.
    Mol Vis; 2010 Jun 23; 16():1162-8. PubMed ID: 20664696
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  • 7. Whole-genome copy number variation analysis in anophthalmia and microphthalmia.
    Schilter KF, Reis LM, Schneider A, Bardakjian TM, Abdul-Rahman O, Kozel BA, Zimmerman HH, Broeckel U, Semina EV.
    Clin Genet; 2013 Nov 23; 84(5):473-81. PubMed ID: 23701296
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  • 9. Sclerocornea-Microphthalmia-Aphakia Complex: Description of Two Additional Cases Associated With Novel FOXE3 Mutations and Review of the Literature.
    Quiroz-Casian N, Chacon-Camacho OF, Barragan-Arevalo T, Nava-Valdez J, Lieberman E, Salgado-Medina A, Navas A, Graue-Hernandez EO, Zenteno JC.
    Cornea; 2018 Sep 23; 37(9):1178-1181. PubMed ID: 29878917
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  • 10. Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
    Chassaing N, Causse A, Vigouroux A, Delahaye A, Alessandri JL, Boespflug-Tanguy O, Boute-Benejean O, Dollfus H, Duban-Bedu B, Gilbert-Dussardier B, Giuliano F, Gonzales M, Holder-Espinasse M, Isidor B, Jacquemont ML, Lacombe D, Martin-Coignard D, Mathieu-Dramard M, Odent S, Picone O, Pinson L, Quelin C, Sigaudy S, Toutain A, Thauvin-Robinet C, Kaplan J, Calvas P.
    Clin Genet; 2014 Oct 23; 86(4):326-34. PubMed ID: 24033328
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  • 12. Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.
    Riera M, Wert A, Nieto I, Pomares E.
    Mol Genet Genomic Med; 2017 Nov 23; 5(6):709-719. PubMed ID: 29178648
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  • 13. Non-syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X-linked recessive manner.
    Wawrocka A, Walczak-Sztulpa J, Pawlak M, Gotz-Wieckowska A, Krawczynski MR.
    Am J Med Genet A; 2021 Jan 23; 185(1):250-255. PubMed ID: 33111437
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  • 14. Anophthalmia and microphthalmia.
    Verma AS, Fitzpatrick DR.
    Orphanet J Rare Dis; 2007 Nov 26; 2():47. PubMed ID: 18039390
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  • 15. Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.
    Jimenez NL, Flannick J, Yahyavi M, Li J, Bardakjian T, Tonkin L, Schneider A, Sherr EH, Slavotinek AM.
    BMC Med Genet; 2011 Dec 28; 12():172. PubMed ID: 22204637
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  • 16. 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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  • 19. Identification of novel pathogenic variants and novel gene-phenotype correlations in Mexican subjects with microphthalmia and/or anophthalmia by next-generation sequencing.
    Matías-Pérez D, García-Montaño LA, Cruz-Aguilar M, García-Montalvo IA, Nava-Valdéz J, Barragán-Arevalo T, Villanueva-Mendoza C, Villarroel CE, Guadarrama-Vallejo C, la Cruz RV, Chacón-Camacho O, Zenteno JC.
    J Hum Genet; 2018 Nov 22; 63(11):1169-1180. PubMed ID: 30181649
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