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245 related items for PubMed ID: 28299356

  • 1. 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; 3(2):a000984. PubMed ID: 28299356
    [Abstract] [Full Text] [Related]

  • 2. Diagnostic distinctions and genetic analysis of patients diagnosed with moebius syndrome.
    MacKinnon S, Oystreck DT, Andrews C, Chan WM, Hunter DG, Engle EC.
    Ophthalmology; 2014 Jul; 121(7):1461-8. PubMed ID: 24612975
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.
    Shaaban S, Ramos-Platt L, Gilles FH, Chan WM, Andrews C, De Girolami U, Demer J, Engle EC.
    JAMA Ophthalmol; 2013 Dec; 131(12):1532-40. PubMed ID: 24091937
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. 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
    [Abstract] [Full Text] [Related]

  • 9. 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
    [Abstract] [Full Text] [Related]

  • 10. 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 Dec; 20():368-75. PubMed ID: 24715754
    [Abstract] [Full Text] [Related]

  • 11. Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing.
    Moresco G, Bedeschi MF, Venturin M, Villa R, Costanza J, Mauri A, Santaniello C, Picciolini O, Messina L, Triulzi F, Miozzo MR, Rondinone O, Fontana L.
    Genes (Basel); 2024 Jul 23; 15(8):. PubMed ID: 39202332
    [Abstract] [Full Text] [Related]

  • 12. 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 23; 182(9):2161-2167. PubMed ID: 32705776
    [Abstract] [Full Text] [Related]

  • 13. Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies.
    Lehky T, Joseph R, Toro C, Wu T, Van Ryzin C, Gropman A, Facio FM, Webb BD, Jabs EW, Barry BS, Engle EC, Collins FS, Manoli I, Moebius Syndrome Research Consortium.
    Muscle Nerve; 2021 Apr 23; 63(4):516-524. PubMed ID: 33389762
    [Abstract] [Full Text] [Related]

  • 14. Characterization of ocular motor deficits in congenital facial weakness: Moebius and related syndromes.
    Rucker JC, Webb BD, Frempong T, Gaspar H, Naidich TP, Jabs EW.
    Brain; 2014 Apr 23; 137(Pt 4):1068-79. PubMed ID: 24561559
    [Abstract] [Full Text] [Related]

  • 15. 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 23; 104(4):547-550. PubMed ID: 31302631
    [Abstract] [Full Text] [Related]

  • 16. 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 23; 29(5):816-826. PubMed ID: 33649541
    [Abstract] [Full Text] [Related]

  • 17. [Clinical characteristics and whole exome sequencing results of patients with Möbius syndrome].
    Ma Q, Jia HY, Chang QL, Wang YD, Liang Y, Wang D, Zhang RR, Jiao YH.
    Zhonghua Yan Ke Za Zhi; 2022 Jun 11; 58(6):441-447. PubMed ID: 35692026
    [Abstract] [Full Text] [Related]

  • 18. Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.
    Whitman MC, Engle EC.
    Hum Mol Genet; 2017 Aug 01; 26(R1):R37-R44. PubMed ID: 28459979
    [Abstract] [Full Text] [Related]

  • 19. [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 01; 49(7):621-6. PubMed ID: 24257358
    [Abstract] [Full Text] [Related]

  • 20. A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.
    Fazeli W, Herkenrath P, Stiller B, Neugebauer A, Fricke J, Lang-Roth R, Nürnberg G, Thoenes M, Becker J, Altmüller J, Volk AE, Kubisch C, Heller R.
    Hum Mol Genet; 2017 Oct 15; 26(20):4055-4066. PubMed ID: 29016863
    [Abstract] [Full Text] [Related]

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