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Journal Abstract Search

140 related items for PubMed ID: 32705776

  • 1. The recurrent TUBB3 Gly98Ser substitution is the first described to inconsistently result in CFEOM3.
    Smith SC, Olney AH, Beavers A, Spaulding J, Nelson M, Nielsen S, Sanmann JN.
    Am J Med Genet A; 2020 Sep; 182(9):2161-2167. PubMed ID: 32705776
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  • 4. TUBB3 E410K syndrome: Case report and review of the clinical spectrum of TUBB3 mutations.
    Dentici ML, Maglione V, Agolini E, Catena G, Capolino R, Lanari V, Novelli A, Sinibaldi L, Vecchio D, Gonfiantini MV, Macchiaiolo M, Digilio MC, Dallapiccola B, Bartuli A.
    Am J Med Genet A; 2020 Aug; 182(8):1977-1984. PubMed ID: 32573066
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  • 5. Evidence of an asymmetrical endophenotype in congenital fibrosis of extraocular muscles type 3 resulting from TUBB3 mutations.
    Demer JL, Clark RA, Tischfield MA, Engle EC.
    Invest Ophthalmol Vis Sci; 2010 Sep; 51(9):4600-11. PubMed ID: 20393110
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  • 8. A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3.
    Chew S, Balasubramanian R, Chan WM, Kang PB, Andrews C, Webb BD, MacKinnon SE, Oystreck DT, Rankin J, Crawford TO, Geraghty M, Pomeroy SL, Crowley WF, Jabs EW, Hunter DG, Grant PE, Engle EC.
    Brain; 2013 Feb; 136(Pt 2):522-35. PubMed ID: 23378218
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  • 11. KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3.
    Al-Haddad C, Boustany RM, Rachid E, Ismail K, Barry B, Chan WM, Engle E.
    Ophthalmic Genet; 2021 Apr; 42(2):195-199. PubMed ID: 33251926
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  • 13. Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome.
    Balasubramanian R, Chew S, MacKinnon SE, Kang PB, Andrews C, Chan WM, Engle EC.
    J Clin Endocrinol Metab; 2015 Mar; 100(3):E473-7. PubMed ID: 25559402
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  • 14. Infantile esotropia in a family with TUBB3 mutation associated congenital fibrosis of extraocular muscles.
    Jang Y, Kwak E, An JY, Jung JH.
    Ophthalmic Genet; 2022 Oct; 43(5):716-719. PubMed ID: 35765833
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  • 15. A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia.
    Shimojima K, Okamoto N, Yamamoto T.
    Am J Med Genet A; 2016 Apr; 170A(4):1076-9. PubMed ID: 26739025
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  • 16. [The gene mutation screening of a family with congenital fibrosis of the extraocular muscles associated with corpus callosum agenesis].
    Zhang JT, Zhou LH, Zha YF, Liu T, Tian MX, Yuan J, Xing YQ.
    Zhonghua Yan Ke Za Zhi; 2013 Jul; 49(7):621-6. PubMed ID: 24257358
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  • 19. Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles.
    Wu J, Huang L, Zhou Y, Xie Y, Mo T, Li N.
    Orphanet J Rare Dis; 2024 Aug 15; 19(1):300. PubMed ID: 39148141
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  • 20. Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles.
    Thomas MG, Maconachie GDE, Kuht HJ, Chan WM, Sheth V, Hisaund M, McLean RJ, Barry B, Al-Diri B, Proudlock FA, Tu Z, Engle EC, Gottlob I.
    Int J Mol Sci; 2021 Mar 04; 22(5):. PubMed ID: 33806565
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