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Journal Abstract Search

225 related items for PubMed ID: 26639658

  • 1. 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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  • 2. 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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  • 3. 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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  • 4. TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
    Whitman MC, Barry BJ, Robson CD, Facio FM, Van Ryzin C, Chan WM, Lehky TJ, Thurm A, Zalewski C, King KA, Brewer C, Almpani K, Lee JS, Delaney A, FitzGibbon EJ, Lee PR, Toro C, Paul SM, Abdul-Rahman OA, Webb BD, Jabs EW, Moller HU, Larsen DA, Antony JH, Troedson C, Ma A, Ragnhild G, Wirgenes KV, Tham E, Kvarnung M, Maarup TJ, MacKinnon S, Hunter DG, Collins FS, Manoli I, Engle EC.
    Hum Genet; 2021 Dec; 140(12):1709-1731. PubMed ID: 34652576
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  • 6. Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
    Poirier K, Saillour Y, Bahi-Buisson N, Jaglin XH, Fallet-Bianco C, Nabbout R, Castelnau-Ptakhine L, Roubertie A, Attie-Bitach T, Desguerre I, Genevieve D, Barnerias C, Keren B, Lebrun N, Boddaert N, Encha-Razavi F, Chelly J.
    Hum Mol Genet; 2010 Nov 15; 19(22):4462-73. PubMed ID: 20829227
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  • 16. An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation.
    Cederquist GY, Luchniak A, Tischfield MA, Peeva M, Song Y, Menezes MP, Chan WM, Andrews C, Chew S, Jamieson RV, Gomes L, Flaherty M, Grant PE, Gupta ML, Engle EC.
    Hum Mol Genet; 2012 Dec 15; 21(26):5484-99. PubMed ID: 23001566
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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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