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PUBMED FOR HANDHELDS

Journal Abstract Search

168 related items for PubMed ID: 20301552

  • 1.
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  • 2. The genetic architecture of microphthalmia, anophthalmia and coloboma.
    Williamson KA, FitzPatrick DR.
    Eur J Med Genet; 2014 Aug; 57(8):369-80. PubMed ID: 24859618
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  • 4. Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center.
    Gerth-Kahlert C, Williamson K, Ansari M, Rainger JK, Hingst V, Zimmermann T, Tech S, Guthoff RF, van Heyningen V, Fitzpatrick DR.
    Mol Genet Genomic Med; 2013 May; 1(1):15-31. PubMed ID: 24498598
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  • 5. 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; 86(4):326-34. PubMed ID: 24033328
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  • 7. Anophthalmia and microphthalmia.
    Verma AS, Fitzpatrick DR.
    Orphanet J Rare Dis; 2007 Nov 26; 2():47. PubMed ID: 18039390
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  • 9. 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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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Sutton VR.
    ; 1993 Nov 22. PubMed ID: 20301712
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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 22; 24(4):535-41. PubMed ID: 26130484
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  • 13. Genetic investigation of ocular developmental genes in 52 patients with anophthalmia/microphthalmia.
    Vidya NG, Rajkumar S, Vasavada AR.
    Ophthalmic Genet; 2018 Jun 22; 39(3):344-352. PubMed ID: 29461140
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  • 18. Microphthalmia, anophthalmia, and coloboma and associated ocular and systemic features: understanding the spectrum.
    Skalicky SE, White AJ, Grigg JR, Martin F, Smith J, Jones M, Donaldson C, Smith JE, Flaherty M, Jamieson RV.
    JAMA Ophthalmol; 2013 Dec 22; 131(12):1517-24. PubMed ID: 24177921
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  • 19. 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 22; 91(11):1471-6. PubMed ID: 17522144
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  • 20. RAX and anophthalmia in humans: evidence of brain anomalies.
    Abouzeid H, Youssef MA, Bayoumi N, ElShakankiri N, Marzouk I, Hauser P, Schorderet DF.
    Mol Vis; 2012 Nov 22; 18():1449-56. PubMed ID: 22736936
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