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Journal Abstract Search

201 related items for PubMed ID: 33633439

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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; 43(6):809-816. PubMed ID: 36695497
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  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma.
    Liu C, Widen SA, Williamson KA, Ratnapriya R, Gerth-Kahlert C, Rainger J, Alur RP, Strachan E, Manjunath SH, Balakrishnan A, Floyd JA, UK10K Consortium, Li T, Waskiewicz A, Brooks BP, Lehmann OJ, FitzPatrick DR, Swaroop A.
    Hum Mol Genet; 2016 Apr 01; 25(7):1382-91. PubMed ID: 26908622
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  • 5. Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma.
    Pierrache LHM, Kimchi A, Ratnapriya R, Roberts L, Astuti GDN, Obolensky A, Beryozkin A, Tjon-Fo-Sang MJH, Schuil J, Klaver CCW, Bongers EMHF, Haer-Wigman L, Schalij N, Breuning MH, Fischer GM, Banin E, Ramesar RS, Swaroop A, van den Born LI, Sharon D, Cremers FPM.
    Ophthalmology; 2017 Jul 01; 124(7):992-1003. PubMed ID: 28412069
    [Abstract] [Full Text] [Related]

  • 6. Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.
    Zi F, Li Z, Cheng W, Huang X, Sheng X, Rong W.
    BMC Med Genomics; 2023 Sep 25; 16(1):223. PubMed ID: 37749571
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  • 8. Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.
    Jiang D, Li J, Xiao X, Li S, Jia X, Sun W, Guo X, Zhang Q.
    Invest Ophthalmol Vis Sci; 2014 Dec 18; 56(1):339-45. PubMed ID: 25525168
    [Abstract] [Full Text] [Related]

  • 9. Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia.
    Li J, Gao B, Xiao X, Li S, Jia X, Sun W, Guo X, Zhang Q.
    Mol Vis; 2016 Dec 18; 22():161-7. PubMed ID: 26957899
    [Abstract] [Full Text] [Related]

  • 10. Unilateral Peters' anomaly with chorioretinal coloboma in the other eye.
    Cho D, Choi D, Nam W.
    Korean J Ophthalmol; 2011 Oct 18; 25(5):352-4. PubMed ID: 21976945
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  • 12. Spectrum-frequency and genotype-phenotype analysis of rhodopsin variants.
    Luo H, Xiao X, Li S, Sun W, Yi Z, Wang P, Zhang Q.
    Exp Eye Res; 2021 Feb 18; 203():108405. PubMed ID: 33347869
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  • 15. Two missense mutations in SALL4 in a patient with microphthalmia, coloboma, and optic nerve hypoplasia.
    Ullah E, Wu D, Madireddy L, Lao R, Ling-Fung Tang P, Wan E, Bardakjian T, Kopinsky S, Kwok PY, Schneider A, Baranzini S, Ansar M, Slavotinek A.
    Ophthalmic Genet; 2017 Feb 18; 38(4):371-375. PubMed ID: 27661448
    [Abstract] [Full Text] [Related]

  • 16. Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia.
    Jiang Y, Xiao X, Sun W, Wang Y, Li S, Jia X, Wang P, Hejtmancik JF, Zhang Q.
    J Transl Med; 2024 Jan 19; 22(1):75. PubMed ID: 38243264
    [Abstract] [Full Text] [Related]

  • 17. PAX6 missense variants in two families with isolated foveal hypoplasia and nystagmus: evidence of paternal postzygotic mosaicism.
    Lima Cunha D, Owen N, Tailor V, Corton M, Theodorou M, Moosajee M.
    Eur J Hum Genet; 2021 Feb 19; 29(2):349-355. PubMed ID: 33024313
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  • 20. SOLITARY RETINAL CAPILLARY HEMANGIOMA IN A PATIENT WITH BILATERAL CHORIORETINAL COLOBOMA.
    Lasave AF, Deromedis P.
    Retin Cases Brief Rep; 2019 Feb 19; 13(4):320-323. PubMed ID: 28358746
    [Abstract] [Full Text] [Related]

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