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Journal Abstract Search

150 related items for PubMed ID: 25559402

  • 1. 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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  • 2. 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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  • 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. 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. 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. Altered White Matter Organization in the TUBB3 E410K Syndrome.
    Grant PE, Im K, Ahtam B, Laurentys CT, Chan WM, Brainard M, Chew S, Drottar M, Robson CD, Drmic I, Engle EC.
    Cereb Cortex; 2019 Jul 22; 29(8):3561-3576. PubMed ID: 30272120
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  • 8. An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.
    Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RA, Lee BH, Lalani SR, Campeau PM.
    Cold Spring Harb Mol Case Stud; 2017 Mar 22; 3(2):a000984. PubMed ID: 28299356
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  • 9. 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 22; 182(9):2161-2167. PubMed ID: 32705776
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  • 12. 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 22; 104(4):547-550. PubMed ID: 31302631
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  • 13. A novel de novo KIF21A mutation in a patient with congenital fibrosis of the extraocular muscles and Möbius syndrome.
    Ali Z, Xing C, Anwar D, Itani K, Weakley D, Gong X, Pascual JM, Mootha VV.
    Mol Vis; 2014 Apr 22; 20():368-75. PubMed ID: 24715754
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  • 17. Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.
    Blumkin L, Leibovitz Z, Krajden-Haratz K, Arad A, Yosovich K, Gindes L, Zerem A, Ben-Sira L, Lev D, Nissenkorn A, Kidron D, Dobyns WB, Malinger G, Bahi-Buisson N, Leventer RJ, Lerman-Sagie T.
    Eur J Paediatr Neurol; 2020 May 22; 26():46-60. PubMed ID: 32169460
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  • 18. 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 22; 43(5):716-719. PubMed ID: 35765833
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  • 20. 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 22; 42(2):195-199. PubMed ID: 33251926
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