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Journal Abstract Search

155 related items for PubMed ID: 36695497

  • 1.
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  • 2. Confirming and expanding the phenotypes of FZD5 variants: Coloboma, inferior chorioretinal hypoplasia, and high myopia.
    Jiang Y, Ouyang J, Li S, Xiao X, Sun W, Zhang Q.
    Mol Vis; 2021; 27():50-60. PubMed ID: 33633439
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  • 4. 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; 29(1):131-140. PubMed ID: 32737437
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  • 5. 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; 24(4):535-41. PubMed ID: 26130484
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  • 6. 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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  • 7. The genetic architecture of microphthalmia, anophthalmia and coloboma.
    Williamson KA, FitzPatrick DR.
    Eur J Med Genet; 2014 Aug 22; 57(8):369-80. PubMed ID: 24859618
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  • 9. 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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  • 10. Compound heterozygous splicing CDON variants result in isolated ocular coloboma.
    Reis LM, Basel D, McCarrier J, Weinberg DV, Semina EV.
    Clin Genet; 2020 Nov 22; 98(5):486-492. PubMed ID: 32729136
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  • 12. Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and coloboma.
    Wyatt A, Bakrania P, Bunyan DJ, Osborne RJ, Crolla JA, Salt A, Ayuso C, Newbury-Ecob R, Abou-Rayyah Y, Collin JR, Robinson D, Ragge N.
    Hum Mutat; 2008 Nov 22; 29(11):E278-83. PubMed ID: 18781617
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  • 13. Identification of novel homozygous variants in FOXE3 and AP4M1 underlying congenital syndromic anophthalmia and microphthalmia.
    Akbar W, Ullah A, Haider N, Suleman S, Khan FU, Shah AA, Sikandar MA, Basit S, Ahmad W.
    J Gene Med; 2024 Jan 22; 26(1):e3601. PubMed ID: 37758467
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  • 14. 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
    [Abstract] [Full Text] [Related]

  • 15. Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.
    Plaisancié J, Ceroni F, Holt R, Zazo Seco C, Calvas P, Chassaing N, Ragge NK.
    Hum Genet; 2019 Sep 20; 138(8-9):799-830. PubMed ID: 30762128
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  • 17. 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
    [Abstract] [Full Text] [Related]

  • 18. 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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  • 20. Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes.
    Reis LM, Tyler RC, Schneider A, Bardakjian T, Semina EV.
    Mol Vis; 2010 Apr 28; 16():768-73. PubMed ID: 20454695
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