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Journal Abstract Search

171 related items for PubMed ID: 27661448

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  • 3. A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.
    Zlotina A, Melnik O, Fomicheva Y, Skitchenko R, Sergushichev A, Shagimardanova E, Gusev O, Gazizova G, Loevets T, Vershinina T, Kozyrev I, Gordeev M, Vasichkina E, Pervunina T, Kostareva A.
    BMC Med Genomics; 2020 Nov 20; 13(1):175. PubMed ID: 33218365
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  • 4. 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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  • 5. Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum.
    Riva A, Gambadauro A, Dipasquale V, Casto C, Ceravolo MD, Accogli A, Scala M, Ceravolo G, Iacomino M, Zara F, Striano P, Cuppari C, Di Rosa G, Cutrupi MC, Salpietro V, Chimenz R.
    Int J Mol Sci; 2021 Apr 25; 22(9):. PubMed ID: 33922911
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  • 6. 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 25; 24(4):535-41. PubMed ID: 26130484
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  • 7. Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.
    Zhang X, Li S, Xiao X, Jia X, Wang P, Shen H, Guo X, Zhang Q.
    Mol Vis; 2009 Dec 27; 15():2911-8. PubMed ID: 20057906
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  • 8. 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 Dec 27; 15():162-7. PubMed ID: 19158959
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  • 9.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Kohlhase J.
    ; 1993 Dec 27. PubMed ID: 20301547
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  • 11. Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2.
    Somashekar PH, Shukla A, Girisha KM.
    Ophthalmic Genet; 2017 Dec 27; 38(6):533-536. PubMed ID: 28388256
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  • 12. The genetic architecture of microphthalmia, anophthalmia and coloboma.
    Williamson KA, FitzPatrick DR.
    Eur J Med Genet; 2014 Aug 27; 57(8):369-80. PubMed ID: 24859618
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  • 13. Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.
    Scott AF, Mohr DW, Kasch LM, Barton JA, Pittiglio R, Ingersoll R, Craig B, Marosy BA, Doheny KF, Bromley WC, Roderick TH, Chassaing N, Calvas P, Prabhu SS, Jabs EW.
    JAMA Ophthalmol; 2014 Oct 27; 132(10):1215-20. PubMed ID: 24993872
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  • 14. De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia.
    DeYoung C, Guan B, Ullah E, Blain D, Hufnagel RB, Brooks BP.
    Ophthalmic Genet; 2022 Aug 27; 43(4):513-517. PubMed ID: 35318877
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  • 15. SALL4 Phenotype in Four Generations of One Family: An Interplay of the Upper Limb, Kidneys, and the Pituitary.
    Kodytková A, Amaratunga SA, Zemková D, Maratová K, Dušátková P, Plachý L, Průhová Š, Koloušková S, Lebl J.
    Horm Res Paediatr; 2024 Aug 27; 97(2):203-210. PubMed ID: 37611564
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  • 17. SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders.
    Kohlhase J, Chitayat D, Kotzot D, Ceylaner S, Froster UG, Fuchs S, Montgomery T, Rösler B.
    Hum Mutat; 2005 Sep 27; 26(3):176-83. PubMed ID: 16086360
    [Abstract] [Full Text] [Related]

  • 18. Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
    Williamson KA, Hall HN, Owen LJ, Livesey BJ, Hanson IM, Adams GGW, Bodek S, Calvas P, Castle B, Clarke M, Deng AT, Edery P, Fisher R, Gillessen-Kaesbach G, Heon E, Hurst J, Josifova D, Lorenz B, McKee S, Meire F, Moore AT, Parker M, Reiff CM, Self J, Tobias ES, Verheij JBGM, Willems M, Williams D, van Heyningen V, Marsh JA, FitzPatrick DR.
    Genet Med; 2020 Mar 27; 22(3):598-609. PubMed ID: 31700164
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  • 20. ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.
    Yahyavi M, Abouzeid H, Gawdat G, de Preux AS, Xiao T, Bardakjian T, Schneider A, Choi A, Jorgenson E, Baier H, El Sada M, Schorderet DF, Slavotinek AM.
    Hum Mol Genet; 2013 Aug 15; 22(16):3250-8. PubMed ID: 23591992
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