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Journal Abstract Search

183 related items for PubMed ID: 32573066

  • 1. 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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  • 3. 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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  • 4. 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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  • 5. Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development.
    Whitman MC, Andrews C, Chan WM, Tischfield MA, Stasheff SF, Brancati F, Ortiz-Gonzalez X, Nuovo S, Garaci F, MacKinnon SE, Hunter DG, Grant PE, Engle EC.
    Am J Med Genet A; 2016 Feb; 170A(2):297-305. PubMed ID: 26639658
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  • 7. TUBB3 E410K syndrome with osteoporosis and cough syncope in a patient previously diagnosed with atypical Moebius syndrome.
    Nakamura Y, Matsumoto H, Zaha K, Uematsu K, Nonoyama S.
    Brain Dev; 2018 Mar; 40(3):233-237. PubMed ID: 29289389
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  • 12. Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development.
    Jurgens JA, Barry BJ, Lemire G, Chan WM, Whitman MC, Shaaban S, Robson CD, MacKinnon S, England EM, McMillan HJ, Kelly C, Pratt BM, Care4Rare Canada Consortium, O'Donnell-Luria A, MacArthur DG, Boycott KM, Hunter DG, Engle EC.
    Eur J Hum Genet; 2021 May; 29(5):816-826. PubMed ID: 33649541
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  • 14. 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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  • 15. The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
    Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I, LIS-Tubulinopathies Consortium, Beldjord C, Chelly J.
    Brain; 2014 Jun; 137(Pt 6):1676-700. PubMed ID: 24860126
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  • 16. Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant.
    Thomas MG, Maconachie GDE, Constantinescu CS, Chan WM, Barry B, Hisaund M, Sheth V, Kuht HJ, Dineen RA, Harieaswar S, Engle EC, Gottlob I.
    Br J Ophthalmol; 2020 Apr; 104(4):547-550. PubMed ID: 31302631
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  • 17. 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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  • 18. 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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